La maladie de Parkinson en France (serveur d'exploration)

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

Identifieur interne : 000686 ( Pmc/Corpus ); précédent : 000685; suivant : 000687

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

Auteurs : Nicola Raule ; Federica Sevini ; Shengting Li ; Annalaura Barbieri ; Federica Tallaro ; Laura Lomartire ; Dario Vianello ; Alberto Montesanto ; Jukka S. Moilanen ; Vladyslav Bezrukov ; Hélène Blanché ; Antti Hervonen ; Kaare Christensen ; Luca Deiana ; Efstathios S. Gonos ; Tom B L. Kirkwood ; Peter Kristensen ; Alberta Leon ; Pier Giuseppe Pelicci ; Michel Poulain ; Irene M. Rea ; Josè Remacle ; Jean Marie Robine ; Stefan Schreiber ; Ewa Sikora ; Peternella Eline Slagboom ; Liana Spazzafumo ; Maria Antonietta Stazi ; Olivier Toussaint ; James W. Vaupel ; Giuseppina Rose ; Kari Majamaa ; Markus Perola ; Thomas E. Johnson ; Lars Bolund ; Huanming Yang ; Giuseppe Passarino ; Claudio Franceschi

Source :

RBID : PMC:4326891

Abstract

To re-examine the correlation between mtDNA variability and longevity, we examined mtDNAs from samples obtained from over 2200 ultranonagenarians (and an equal number of controls) collected within the framework of the GEHA EU project. The samples were categorized by high-resolution classification, while about 1300 mtDNA molecules (650 ultranonagenarians and an equal number of controls) were completely sequenced. Sequences, unlike standard haplogroup analysis, made possible to evaluate for the first time the cumulative effects of specific, concomitant mtDNA mutations, including those that per se have a low, or very low, impact. In particular, the analysis of the mutations occurring in different OXPHOS complex showed a complex scenario with a different mutation burden in 90+ subjects with respect to controls. These findings suggested that mutations in subunits of the OXPHOS complex I had a beneficial effect on longevity, while the simultaneous presence of mutations in complex I and III (which also occurs in J subhaplogroups involved in LHON) and in complex I and V seemed to be detrimental, likely explaining previous contradictory results. On the whole, our study, which goes beyond haplogroup analysis, suggests that mitochondrial DNA variation does affect human longevity, but its effect is heavily influenced by the interaction between mutations concomitantly occurring on different mtDNA genes.


Url:
DOI: 10.1111/acel.12186
PubMed: 24341918
PubMed Central: 4326891

Links to Exploration step

PMC:4326891

Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific</title>
<author>
<name sortKey="Raule, Nicola" sort="Raule, Nicola" uniqKey="Raule N" first="Nicola" last="Raule">Nicola Raule</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sevini, Federica" sort="Sevini, Federica" uniqKey="Sevini F" first="Federica" last="Sevini">Federica Sevini</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Li, Shengting" sort="Li, Shengting" uniqKey="Li S" first="Shengting" last="Li">Shengting Li</name>
<affiliation>
<nlm:aff id="au2">
<addr-line>BGI Shenzhen, Shenzhen, 518083, China</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Barbieri, Annalaura" sort="Barbieri, Annalaura" uniqKey="Barbieri A" first="Annalaura" last="Barbieri">Annalaura Barbieri</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Tallaro, Federica" sort="Tallaro, Federica" uniqKey="Tallaro F" first="Federica" last="Tallaro">Federica Tallaro</name>
<affiliation>
<nlm:aff id="au3">
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lomartire, Laura" sort="Lomartire, Laura" uniqKey="Lomartire L" first="Laura" last="Lomartire">Laura Lomartire</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Vianello, Dario" sort="Vianello, Dario" uniqKey="Vianello D" first="Dario" last="Vianello">Dario Vianello</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Montesanto, Alberto" sort="Montesanto, Alberto" uniqKey="Montesanto A" first="Alberto" last="Montesanto">Alberto Montesanto</name>
<affiliation>
<nlm:aff id="au3">
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Moilanen, Jukka S" sort="Moilanen, Jukka S" uniqKey="Moilanen J" first="Jukka S" last="Moilanen">Jukka S. Moilanen</name>
<affiliation>
<nlm:aff id="au4">
<institution>Institute of Clinical Medicine, University of Oulu, Oulu University Hospital and MRC Oulu</institution>
<addr-line>Oulu, 90014, Finland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bezrukov, Vladyslav" sort="Bezrukov, Vladyslav" uniqKey="Bezrukov V" first="Vladyslav" last="Bezrukov">Vladyslav Bezrukov</name>
<affiliation>
<nlm:aff id="au5">
<institution>Institute of Gerontology</institution>
<addr-line>Kiev, 252114, Ukraine</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Blanche, Helene" sort="Blanche, Helene" uniqKey="Blanche H" first="Hélène" last="Blanché">Hélène Blanché</name>
<affiliation>
<nlm:aff id="au6">
<institution>Centre Polymorphisme Humaine, Fondation Jean Dausset</institution>
<addr-line>Paris, 75010, France</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hervonen, Antti" sort="Hervonen, Antti" uniqKey="Hervonen A" first="Antti" last="Hervonen">Antti Hervonen</name>
<affiliation>
<nlm:aff id="au7">
<institution>University of Tampere</institution>
<addr-line>Tampere, 33014, Finland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Christensen, Kaare" sort="Christensen, Kaare" uniqKey="Christensen K" first="Kaare" last="Christensen">Kaare Christensen</name>
<affiliation>
<nlm:aff id="au8">
<institution>Institute of Public Health, University of Southern Denmark</institution>
<addr-line>Odense, 5230, Denmark</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Deiana, Luca" sort="Deiana, Luca" uniqKey="Deiana L" first="Luca" last="Deiana">Luca Deiana</name>
<affiliation>
<nlm:aff id="au9">
<institution>University of Sassari</institution>
<addr-line>Sassari, 07100, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Gonos, Efstathios S" sort="Gonos, Efstathios S" uniqKey="Gonos E" first="Efstathios S" last="Gonos">Efstathios S. Gonos</name>
<affiliation>
<nlm:aff id="au10">
<institution>National Hellenic Research Foundation</institution>
<addr-line>Athens, 116 35, Greece</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kirkwood, Tom B L" sort="Kirkwood, Tom B L" uniqKey="Kirkwood T" first="Tom B L" last="Kirkwood">Tom B L. Kirkwood</name>
<affiliation>
<nlm:aff id="au11">
<institution>School of Clinical Medical Sciences, Gerontology “Henry Wellcome”, University of Newcastle upon Tyne</institution>
<addr-line>Newcastle upon Tyne, NE1 3BZ, UK</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kristensen, Peter" sort="Kristensen, Peter" uniqKey="Kristensen P" first="Peter" last="Kristensen">Peter Kristensen</name>
<affiliation>
<nlm:aff id="au12">
<institution>University of Aarhus</institution>
<addr-line>Aarhus, 8000, Denmark</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Leon, Alberta" sort="Leon, Alberta" uniqKey="Leon A" first="Alberta" last="Leon">Alberta Leon</name>
<affiliation>
<nlm:aff id="au13">
<institution>Research & Innovation Soc.Coop. a r.l.</institution>
<addr-line>Padova, 35127, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Pelicci, Pier Giuseppe" sort="Pelicci, Pier Giuseppe" uniqKey="Pelicci P" first="Pier Giuseppe" last="Pelicci">Pier Giuseppe Pelicci</name>
<affiliation>
<nlm:aff id="au14">
<institution>IFOM—Fondazione Istituto FIRC di Oncologia Molecolare</institution>
<addr-line>Milano, 20139, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Poulain, Michel" sort="Poulain, Michel" uniqKey="Poulain M" first="Michel" last="Poulain">Michel Poulain</name>
<affiliation>
<nlm:aff id="au15">
<institution>Research Centre of Demographic Management for Public Administrations, UCL—GéDAP</institution>
<addr-line>Louvain-la-Neuve, 1348, Belgium</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Rea, Irene M" sort="Rea, Irene M" uniqKey="Rea I" first="Irene M" last="Rea">Irene M. Rea</name>
<affiliation>
<nlm:aff id="au16">
<institution>The Queen’s University Belfast</institution>
<addr-line>Belfast, BT7 1NN, UK</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Remacle, Jose" sort="Remacle, Jose" uniqKey="Remacle J" first="Josè" last="Remacle">Josè Remacle</name>
<affiliation>
<nlm:aff id="au17">
<institution>Eppendorf Array Technologies, SA—EAT Research and Development</institution>
<addr-line>Namur, 5000, Belgium</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Robine, Jean Marie" sort="Robine, Jean Marie" uniqKey="Robine J" first="Jean Marie" last="Robine">Jean Marie Robine</name>
<affiliation>
<nlm:aff id="au18">
<institution>University of Montpellier, Val d’Aurelle Cancer Research Center</institution>
<addr-line>Montpellier, 34090, France</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name>
<affiliation>
<nlm:aff id="au19">
<institution>Kiel Center for Functional Genomics, University Hospital Schleswig Holstein</institution>
<addr-line>Kiel, 24105, Germany</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sikora, Ewa" sort="Sikora, Ewa" uniqKey="Sikora E" first="Ewa" last="Sikora">Ewa Sikora</name>
<affiliation>
<nlm:aff id="au20">
<institution>Nencki Institute of Experimental Biology, Polish Academy of Sciences</institution>
<addr-line>Warsaw, 00-679, Poland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Eline Slagboom, Peternella" sort="Eline Slagboom, Peternella" uniqKey="Eline Slagboom P" first="Peternella" last="Eline Slagboom">Peternella Eline Slagboom</name>
<affiliation>
<nlm:aff id="au21">
<institution>Leiden University Medical Centre</institution>
<addr-line>Leiden, 2333 ZA, the Netherlands</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Spazzafumo, Liana" sort="Spazzafumo, Liana" uniqKey="Spazzafumo L" first="Liana" last="Spazzafumo">Liana Spazzafumo</name>
<affiliation>
<nlm:aff id="au22">
<institution>INRCA—Italian National Research Centre on Aging</institution>
<addr-line>Ancona, 60127, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Antonietta Stazi, Maria" sort="Antonietta Stazi, Maria" uniqKey="Antonietta Stazi M" first="Maria" last="Antonietta Stazi">Maria Antonietta Stazi</name>
<affiliation>
<nlm:aff id="au23">
<institution>Istituto Superiore di Sanità</institution>
<addr-line>Rome, 00161, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Toussaint, Olivier" sort="Toussaint, Olivier" uniqKey="Toussaint O" first="Olivier" last="Toussaint">Olivier Toussaint</name>
<affiliation>
<nlm:aff id="au24">
<institution>Facultés Universitaire Notre Dame de la Paix</institution>
<addr-line>Namur, 5000, Belgium</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Vaupel, James W" sort="Vaupel, James W" uniqKey="Vaupel J" first="James W" last="Vaupel">James W. Vaupel</name>
<affiliation>
<nlm:aff id="au25">
<institution>Max Planck Institute for Demographic Research</institution>
<addr-line>Rostock, 18057, Germany</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Rose, Giuseppina" sort="Rose, Giuseppina" uniqKey="Rose G" first="Giuseppina" last="Rose">Giuseppina Rose</name>
<affiliation>
<nlm:aff id="au3">
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Majamaa, Kari" sort="Majamaa, Kari" uniqKey="Majamaa K" first="Kari" last="Majamaa">Kari Majamaa</name>
<affiliation>
<nlm:aff id="au4">
<institution>Institute of Clinical Medicine, University of Oulu, Oulu University Hospital and MRC Oulu</institution>
<addr-line>Oulu, 90014, Finland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Perola, Markus" sort="Perola, Markus" uniqKey="Perola M" first="Markus" last="Perola">Markus Perola</name>
<affiliation>
<nlm:aff id="au26">
<institution>National Public Health Institute</institution>
<addr-line>Helsinki, 00260, Finland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Johnson, Thomas E" sort="Johnson, Thomas E" uniqKey="Johnson T" first="Thomas E" last="Johnson">Thomas E. Johnson</name>
<affiliation>
<nlm:aff id="au27">
<institution>Institute for Behavioral Genetics, University of Colorado Boulder</institution>
<addr-line>Boulder, CO, 80309, USA</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bolund, Lars" sort="Bolund, Lars" uniqKey="Bolund L" first="Lars" last="Bolund">Lars Bolund</name>
<affiliation>
<nlm:aff id="au2">
<addr-line>BGI Shenzhen, Shenzhen, 518083, China</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Yang, Huanming" sort="Yang, Huanming" uniqKey="Yang H" first="Huanming" last="Yang">Huanming Yang</name>
<affiliation>
<nlm:aff id="au2">
<addr-line>BGI Shenzhen, Shenzhen, 518083, China</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Passarino, Giuseppe" sort="Passarino, Giuseppe" uniqKey="Passarino G" first="Giuseppe" last="Passarino">Giuseppe Passarino</name>
<affiliation>
<nlm:aff id="au3">
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Franceschi, Claudio" sort="Franceschi, Claudio" uniqKey="Franceschi C" first="Claudio" last="Franceschi">Claudio Franceschi</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PMC</idno>
<idno type="pmid">24341918</idno>
<idno type="pmc">4326891</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326891</idno>
<idno type="RBID">PMC:4326891</idno>
<idno type="doi">10.1111/acel.12186</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">000686</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000686</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en" level="a" type="main">The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific</title>
<author>
<name sortKey="Raule, Nicola" sort="Raule, Nicola" uniqKey="Raule N" first="Nicola" last="Raule">Nicola Raule</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sevini, Federica" sort="Sevini, Federica" uniqKey="Sevini F" first="Federica" last="Sevini">Federica Sevini</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Li, Shengting" sort="Li, Shengting" uniqKey="Li S" first="Shengting" last="Li">Shengting Li</name>
<affiliation>
<nlm:aff id="au2">
<addr-line>BGI Shenzhen, Shenzhen, 518083, China</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Barbieri, Annalaura" sort="Barbieri, Annalaura" uniqKey="Barbieri A" first="Annalaura" last="Barbieri">Annalaura Barbieri</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Tallaro, Federica" sort="Tallaro, Federica" uniqKey="Tallaro F" first="Federica" last="Tallaro">Federica Tallaro</name>
<affiliation>
<nlm:aff id="au3">
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Lomartire, Laura" sort="Lomartire, Laura" uniqKey="Lomartire L" first="Laura" last="Lomartire">Laura Lomartire</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Vianello, Dario" sort="Vianello, Dario" uniqKey="Vianello D" first="Dario" last="Vianello">Dario Vianello</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Montesanto, Alberto" sort="Montesanto, Alberto" uniqKey="Montesanto A" first="Alberto" last="Montesanto">Alberto Montesanto</name>
<affiliation>
<nlm:aff id="au3">
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Moilanen, Jukka S" sort="Moilanen, Jukka S" uniqKey="Moilanen J" first="Jukka S" last="Moilanen">Jukka S. Moilanen</name>
<affiliation>
<nlm:aff id="au4">
<institution>Institute of Clinical Medicine, University of Oulu, Oulu University Hospital and MRC Oulu</institution>
<addr-line>Oulu, 90014, Finland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bezrukov, Vladyslav" sort="Bezrukov, Vladyslav" uniqKey="Bezrukov V" first="Vladyslav" last="Bezrukov">Vladyslav Bezrukov</name>
<affiliation>
<nlm:aff id="au5">
<institution>Institute of Gerontology</institution>
<addr-line>Kiev, 252114, Ukraine</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Blanche, Helene" sort="Blanche, Helene" uniqKey="Blanche H" first="Hélène" last="Blanché">Hélène Blanché</name>
<affiliation>
<nlm:aff id="au6">
<institution>Centre Polymorphisme Humaine, Fondation Jean Dausset</institution>
<addr-line>Paris, 75010, France</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Hervonen, Antti" sort="Hervonen, Antti" uniqKey="Hervonen A" first="Antti" last="Hervonen">Antti Hervonen</name>
<affiliation>
<nlm:aff id="au7">
<institution>University of Tampere</institution>
<addr-line>Tampere, 33014, Finland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Christensen, Kaare" sort="Christensen, Kaare" uniqKey="Christensen K" first="Kaare" last="Christensen">Kaare Christensen</name>
<affiliation>
<nlm:aff id="au8">
<institution>Institute of Public Health, University of Southern Denmark</institution>
<addr-line>Odense, 5230, Denmark</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Deiana, Luca" sort="Deiana, Luca" uniqKey="Deiana L" first="Luca" last="Deiana">Luca Deiana</name>
<affiliation>
<nlm:aff id="au9">
<institution>University of Sassari</institution>
<addr-line>Sassari, 07100, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Gonos, Efstathios S" sort="Gonos, Efstathios S" uniqKey="Gonos E" first="Efstathios S" last="Gonos">Efstathios S. Gonos</name>
<affiliation>
<nlm:aff id="au10">
<institution>National Hellenic Research Foundation</institution>
<addr-line>Athens, 116 35, Greece</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kirkwood, Tom B L" sort="Kirkwood, Tom B L" uniqKey="Kirkwood T" first="Tom B L" last="Kirkwood">Tom B L. Kirkwood</name>
<affiliation>
<nlm:aff id="au11">
<institution>School of Clinical Medical Sciences, Gerontology “Henry Wellcome”, University of Newcastle upon Tyne</institution>
<addr-line>Newcastle upon Tyne, NE1 3BZ, UK</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Kristensen, Peter" sort="Kristensen, Peter" uniqKey="Kristensen P" first="Peter" last="Kristensen">Peter Kristensen</name>
<affiliation>
<nlm:aff id="au12">
<institution>University of Aarhus</institution>
<addr-line>Aarhus, 8000, Denmark</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Leon, Alberta" sort="Leon, Alberta" uniqKey="Leon A" first="Alberta" last="Leon">Alberta Leon</name>
<affiliation>
<nlm:aff id="au13">
<institution>Research & Innovation Soc.Coop. a r.l.</institution>
<addr-line>Padova, 35127, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Pelicci, Pier Giuseppe" sort="Pelicci, Pier Giuseppe" uniqKey="Pelicci P" first="Pier Giuseppe" last="Pelicci">Pier Giuseppe Pelicci</name>
<affiliation>
<nlm:aff id="au14">
<institution>IFOM—Fondazione Istituto FIRC di Oncologia Molecolare</institution>
<addr-line>Milano, 20139, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Poulain, Michel" sort="Poulain, Michel" uniqKey="Poulain M" first="Michel" last="Poulain">Michel Poulain</name>
<affiliation>
<nlm:aff id="au15">
<institution>Research Centre of Demographic Management for Public Administrations, UCL—GéDAP</institution>
<addr-line>Louvain-la-Neuve, 1348, Belgium</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Rea, Irene M" sort="Rea, Irene M" uniqKey="Rea I" first="Irene M" last="Rea">Irene M. Rea</name>
<affiliation>
<nlm:aff id="au16">
<institution>The Queen’s University Belfast</institution>
<addr-line>Belfast, BT7 1NN, UK</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Remacle, Jose" sort="Remacle, Jose" uniqKey="Remacle J" first="Josè" last="Remacle">Josè Remacle</name>
<affiliation>
<nlm:aff id="au17">
<institution>Eppendorf Array Technologies, SA—EAT Research and Development</institution>
<addr-line>Namur, 5000, Belgium</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Robine, Jean Marie" sort="Robine, Jean Marie" uniqKey="Robine J" first="Jean Marie" last="Robine">Jean Marie Robine</name>
<affiliation>
<nlm:aff id="au18">
<institution>University of Montpellier, Val d’Aurelle Cancer Research Center</institution>
<addr-line>Montpellier, 34090, France</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name>
<affiliation>
<nlm:aff id="au19">
<institution>Kiel Center for Functional Genomics, University Hospital Schleswig Holstein</institution>
<addr-line>Kiel, 24105, Germany</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Sikora, Ewa" sort="Sikora, Ewa" uniqKey="Sikora E" first="Ewa" last="Sikora">Ewa Sikora</name>
<affiliation>
<nlm:aff id="au20">
<institution>Nencki Institute of Experimental Biology, Polish Academy of Sciences</institution>
<addr-line>Warsaw, 00-679, Poland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Eline Slagboom, Peternella" sort="Eline Slagboom, Peternella" uniqKey="Eline Slagboom P" first="Peternella" last="Eline Slagboom">Peternella Eline Slagboom</name>
<affiliation>
<nlm:aff id="au21">
<institution>Leiden University Medical Centre</institution>
<addr-line>Leiden, 2333 ZA, the Netherlands</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Spazzafumo, Liana" sort="Spazzafumo, Liana" uniqKey="Spazzafumo L" first="Liana" last="Spazzafumo">Liana Spazzafumo</name>
<affiliation>
<nlm:aff id="au22">
<institution>INRCA—Italian National Research Centre on Aging</institution>
<addr-line>Ancona, 60127, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Antonietta Stazi, Maria" sort="Antonietta Stazi, Maria" uniqKey="Antonietta Stazi M" first="Maria" last="Antonietta Stazi">Maria Antonietta Stazi</name>
<affiliation>
<nlm:aff id="au23">
<institution>Istituto Superiore di Sanità</institution>
<addr-line>Rome, 00161, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Toussaint, Olivier" sort="Toussaint, Olivier" uniqKey="Toussaint O" first="Olivier" last="Toussaint">Olivier Toussaint</name>
<affiliation>
<nlm:aff id="au24">
<institution>Facultés Universitaire Notre Dame de la Paix</institution>
<addr-line>Namur, 5000, Belgium</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Vaupel, James W" sort="Vaupel, James W" uniqKey="Vaupel J" first="James W" last="Vaupel">James W. Vaupel</name>
<affiliation>
<nlm:aff id="au25">
<institution>Max Planck Institute for Demographic Research</institution>
<addr-line>Rostock, 18057, Germany</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Rose, Giuseppina" sort="Rose, Giuseppina" uniqKey="Rose G" first="Giuseppina" last="Rose">Giuseppina Rose</name>
<affiliation>
<nlm:aff id="au3">
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Majamaa, Kari" sort="Majamaa, Kari" uniqKey="Majamaa K" first="Kari" last="Majamaa">Kari Majamaa</name>
<affiliation>
<nlm:aff id="au4">
<institution>Institute of Clinical Medicine, University of Oulu, Oulu University Hospital and MRC Oulu</institution>
<addr-line>Oulu, 90014, Finland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Perola, Markus" sort="Perola, Markus" uniqKey="Perola M" first="Markus" last="Perola">Markus Perola</name>
<affiliation>
<nlm:aff id="au26">
<institution>National Public Health Institute</institution>
<addr-line>Helsinki, 00260, Finland</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Johnson, Thomas E" sort="Johnson, Thomas E" uniqKey="Johnson T" first="Thomas E" last="Johnson">Thomas E. Johnson</name>
<affiliation>
<nlm:aff id="au27">
<institution>Institute for Behavioral Genetics, University of Colorado Boulder</institution>
<addr-line>Boulder, CO, 80309, USA</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Bolund, Lars" sort="Bolund, Lars" uniqKey="Bolund L" first="Lars" last="Bolund">Lars Bolund</name>
<affiliation>
<nlm:aff id="au2">
<addr-line>BGI Shenzhen, Shenzhen, 518083, China</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Yang, Huanming" sort="Yang, Huanming" uniqKey="Yang H" first="Huanming" last="Yang">Huanming Yang</name>
<affiliation>
<nlm:aff id="au2">
<addr-line>BGI Shenzhen, Shenzhen, 518083, China</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Passarino, Giuseppe" sort="Passarino, Giuseppe" uniqKey="Passarino G" first="Giuseppe" last="Passarino">Giuseppe Passarino</name>
<affiliation>
<nlm:aff id="au3">
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Franceschi, Claudio" sort="Franceschi, Claudio" uniqKey="Franceschi C" first="Claudio" last="Franceschi">Claudio Franceschi</name>
<affiliation>
<nlm:aff id="au1">
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</nlm:aff>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Aging Cell</title>
<idno type="ISSN">1474-9718</idno>
<idno type="eISSN">1474-9726</idno>
<imprint>
<date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p>To re-examine the correlation between mtDNA variability and longevity, we examined mtDNAs from samples obtained from over 2200 ultranonagenarians (and an equal number of controls) collected within the framework of the GEHA EU project. The samples were categorized by high-resolution classification, while about 1300 mtDNA molecules (650 ultranonagenarians and an equal number of controls) were completely sequenced. Sequences, unlike standard haplogroup analysis, made possible to evaluate for the first time the cumulative effects of specific, concomitant mtDNA mutations, including those that
<italic>per se</italic>
have a low, or very low, impact. In particular, the analysis of the mutations occurring in different OXPHOS complex showed a complex scenario with a different mutation burden in 90+ subjects with respect to controls. These findings suggested that mutations in subunits of the OXPHOS complex I had a beneficial effect on longevity, while the simultaneous presence of mutations in complex I and III (which also occurs in J subhaplogroups involved in LHON) and in complex I and V seemed to be detrimental, likely explaining previous contradictory results. On the whole, our study, which goes beyond haplogroup analysis, suggests that mitochondrial DNA variation does affect human longevity, but its effect is heavily influenced by the interaction between mutations concomitantly occurring on different mtDNA genes.</p>
</div>
</front>
<back>
<div1 type="bibliography">
<listBibl>
<biblStruct>
<analytic>
<author>
<name sortKey="Achilli, A" uniqKey="Achilli A">A Achilli</name>
</author>
<author>
<name sortKey="Iommarini, L" uniqKey="Iommarini L">L Iommarini</name>
</author>
<author>
<name sortKey="Olivieri, A" uniqKey="Olivieri A">A Olivieri</name>
</author>
<author>
<name sortKey="Pala, M" uniqKey="Pala M">M Pala</name>
</author>
<author>
<name sortKey="Hooshiar Kashani, B" uniqKey="Hooshiar Kashani B">B Hooshiar Kashani</name>
</author>
<author>
<name sortKey="Reynier, P" uniqKey="Reynier P">P Reynier</name>
</author>
<author>
<name sortKey="La Morgia, C" uniqKey="La Morgia C">C La Morgia</name>
</author>
<author>
<name sortKey="Valentino, Ml" uniqKey="Valentino M">ML Valentino</name>
</author>
<author>
<name sortKey="Liguori, R" uniqKey="Liguori R">R Liguori</name>
</author>
<author>
<name sortKey="Pizza, F" uniqKey="Pizza F">F Pizza</name>
</author>
<author>
<name sortKey="Barboni, P" uniqKey="Barboni P">P Barboni</name>
</author>
<author>
<name sortKey="Sadun, F" uniqKey="Sadun F">F Sadun</name>
</author>
<author>
<name sortKey="De Negri, Am" uniqKey="De Negri A">AM De Negri</name>
</author>
<author>
<name sortKey="Zeviani, M" uniqKey="Zeviani M">M Zeviani</name>
</author>
<author>
<name sortKey="Dollfus, H" uniqKey="Dollfus H">H Dollfus</name>
</author>
<author>
<name sortKey="Moulignier, A" uniqKey="Moulignier A">A Moulignier</name>
</author>
<author>
<name sortKey="Ducos, G" uniqKey="Ducos G">G Ducos</name>
</author>
<author>
<name sortKey="Orssaud, C" uniqKey="Orssaud C">C Orssaud</name>
</author>
<author>
<name sortKey="Bonneau, D" uniqKey="Bonneau D">D Bonneau</name>
</author>
<author>
<name sortKey="Procaccio, V" uniqKey="Procaccio V">V Procaccio</name>
</author>
<author>
<name sortKey="Leo Kottler, B" uniqKey="Leo Kottler B">B Leo-Kottler</name>
</author>
<author>
<name sortKey="Fauser, S" uniqKey="Fauser S">S Fauser</name>
</author>
<author>
<name sortKey="Wissinger, B" uniqKey="Wissinger B">B Wissinger</name>
</author>
<author>
<name sortKey="Amati Bonneau, P" uniqKey="Amati Bonneau P">P Amati-Bonneau</name>
</author>
<author>
<name sortKey="Torroni, A" uniqKey="Torroni A">A Torroni</name>
</author>
<author>
<name sortKey="Carelli, V" uniqKey="Carelli V">V Carelli</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Andrews, Rm" uniqKey="Andrews R">RM Andrews</name>
</author>
<author>
<name sortKey="Kubacka, I" uniqKey="Kubacka I">I Kubacka</name>
</author>
<author>
<name sortKey="Chinnery, Pf" uniqKey="Chinnery P">PF Chinnery</name>
</author>
<author>
<name sortKey="Lightowlers, Rn" uniqKey="Lightowlers R">RN Lightowlers</name>
</author>
<author>
<name sortKey="Turnbull, Dm" uniqKey="Turnbull D">DM Turnbull</name>
</author>
<author>
<name sortKey="Howell, N" uniqKey="Howell N">N Howell</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Beekman, M" uniqKey="Beekman M">M Beekman</name>
</author>
<author>
<name sortKey="Blanche, H" uniqKey="Blanche H">H Blanché</name>
</author>
<author>
<name sortKey="Perola, M" uniqKey="Perola M">M Perola</name>
</author>
<author>
<name sortKey="Hervonen, A" uniqKey="Hervonen A">A Hervonen</name>
</author>
<author>
<name sortKey="Bezrukov, V" uniqKey="Bezrukov V">V Bezrukov</name>
</author>
<author>
<name sortKey="Sikora, E" uniqKey="Sikora E">E Sikora</name>
</author>
<author>
<name sortKey="Flachsbart, F" uniqKey="Flachsbart F">F Flachsbart</name>
</author>
<author>
<name sortKey="Christiansen, L" uniqKey="Christiansen L">L Christiansen</name>
</author>
<author>
<name sortKey="De Craen, Aj" uniqKey="De Craen A">AJ De Craen</name>
</author>
<author>
<name sortKey="Kirkwood, Tb" uniqKey="Kirkwood T">TB Kirkwood</name>
</author>
<author>
<name sortKey="Rea, Im" uniqKey="Rea I">IM Rea</name>
</author>
<author>
<name sortKey="Poulain, M" uniqKey="Poulain M">M Poulain</name>
</author>
<author>
<name sortKey="Robine, Jm" uniqKey="Robine J">JM Robine</name>
</author>
<author>
<name sortKey="Valensin, S" uniqKey="Valensin S">S Valensin</name>
</author>
<author>
<name sortKey="Stazi, Ma" uniqKey="Stazi M">MA Stazi</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Deiana, L" uniqKey="Deiana L">L Deiana</name>
</author>
<author>
<name sortKey="Gonos, Es" uniqKey="Gonos E">ES Gonos</name>
</author>
<author>
<name sortKey="Paternoster, L" uniqKey="Paternoster L">L Paternoster</name>
</author>
<author>
<name sortKey="S Rensen, Ti" uniqKey="S Rensen T">TI Sørensen</name>
</author>
<author>
<name sortKey="Tan, Q" uniqKey="Tan Q">Q Tan</name>
</author>
<author>
<name sortKey="Helmer, Q" uniqKey="Helmer Q">Q Helmer</name>
</author>
<author>
<name sortKey="Van Den Akker, Eb" uniqKey="Van Den Akker E">EB van den Akker</name>
</author>
<author>
<name sortKey="Deelen, J" uniqKey="Deelen J">J Deelen</name>
</author>
<author>
<name sortKey="Martella, F" uniqKey="Martella F">F Martella</name>
</author>
<author>
<name sortKey="Cordell, Hj" uniqKey="Cordell H">HJ Cordell</name>
</author>
<author>
<name sortKey="Ayers, Kl" uniqKey="Ayers K">KL Ayers</name>
</author>
<author>
<name sortKey="Vaupel, Jw" uniqKey="Vaupel J">JW Vaupel</name>
</author>
<author>
<name sortKey="Tornwall, O" uniqKey="Tornwall O">O Törnwall</name>
</author>
<author>
<name sortKey="Johnson, Te" uniqKey="Johnson T">TE Johnson</name>
</author>
<author>
<name sortKey="Schreiber, S" uniqKey="Schreiber S">S Schreiber</name>
</author>
<author>
<name sortKey="Lathrop, M" uniqKey="Lathrop M">M Lathrop</name>
</author>
<author>
<name sortKey="Skytthe, A" uniqKey="Skytthe A">A Skytthe</name>
</author>
<author>
<name sortKey="Westendorp, Rg" uniqKey="Westendorp R">RG Westendorp</name>
</author>
<author>
<name sortKey="Christensen, K" uniqKey="Christensen K">K Christensen</name>
</author>
<author>
<name sortKey="Gampe, J" uniqKey="Gampe J">J Gampe</name>
</author>
<author>
<name sortKey="Nebel, A" uniqKey="Nebel A">A Nebel</name>
</author>
<author>
<name sortKey="Houwing Duistermaat, Jj" uniqKey="Houwing Duistermaat J">JJ Houwing-Duistermaat</name>
</author>
<author>
<name sortKey="Slagboom, Pe" uniqKey="Slagboom P">PE Slagboom</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Bellizzi, D" uniqKey="Bellizzi D">D Bellizzi</name>
</author>
<author>
<name sortKey="D Quila, P" uniqKey="D Quila P">P D’Aquila</name>
</author>
<author>
<name sortKey="Giordano, M" uniqKey="Giordano M">M Giordano</name>
</author>
<author>
<name sortKey="Montesanto, A" uniqKey="Montesanto A">A Montesanto</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Biffi, A" uniqKey="Biffi A">A Biffi</name>
</author>
<author>
<name sortKey="Anderson, Cd" uniqKey="Anderson C">CD Anderson</name>
</author>
<author>
<name sortKey="Nalls, Ma" uniqKey="Nalls M">MA Nalls</name>
</author>
<author>
<name sortKey="Rahman, R" uniqKey="Rahman R">R Rahman</name>
</author>
<author>
<name sortKey="Sonni, A" uniqKey="Sonni A">A Sonni</name>
</author>
<author>
<name sortKey="Cortellini, L" uniqKey="Cortellini L">L Cortellini</name>
</author>
<author>
<name sortKey="Rost, Ns" uniqKey="Rost N">NS Rost</name>
</author>
<author>
<name sortKey="Matarin, M" uniqKey="Matarin M">M Matarin</name>
</author>
<author>
<name sortKey="Hernandez, Dg" uniqKey="Hernandez D">DG Hernandez</name>
</author>
<author>
<name sortKey="Plourde, A" uniqKey="Plourde A">A Plourde</name>
</author>
<author>
<name sortKey="De Bakker, Pi" uniqKey="De Bakker P">PI de Bakker</name>
</author>
<author>
<name sortKey="Ross, Oa" uniqKey="Ross O">OA Ross</name>
</author>
<author>
<name sortKey="Greenberg, Sm" uniqKey="Greenberg S">SM Greenberg</name>
</author>
<author>
<name sortKey="Furie, Kl" uniqKey="Furie K">KL Furie</name>
</author>
<author>
<name sortKey="Meschia, Jf" uniqKey="Meschia J">JF Meschia</name>
</author>
<author>
<name sortKey="Singleton, Ab" uniqKey="Singleton A">AB Singleton</name>
</author>
<author>
<name sortKey="Saxena, R" uniqKey="Saxena R">R Saxena</name>
</author>
<author>
<name sortKey="Rosand, J" uniqKey="Rosand J">J Rosand</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Bratic, A" uniqKey="Bratic A">A Bratic</name>
</author>
<author>
<name sortKey="Larsson, Ng" uniqKey="Larsson N">NG Larsson</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Brown, Md" uniqKey="Brown M">MD Brown</name>
</author>
<author>
<name sortKey="Shoffner, Jm" uniqKey="Shoffner J">JM Shoffner</name>
</author>
<author>
<name sortKey="Kim, Yl" uniqKey="Kim Y">YL Kim</name>
</author>
<author>
<name sortKey="Jun, As" uniqKey="Jun A">AS Jun</name>
</author>
<author>
<name sortKey="Graham, Bh" uniqKey="Graham B">BH Graham</name>
</author>
<author>
<name sortKey="Cabell, Mf" uniqKey="Cabell M">MF Cabell</name>
</author>
<author>
<name sortKey="Gurley, Ds" uniqKey="Gurley D">DS Gurley</name>
</author>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Brown, Md" uniqKey="Brown M">MD Brown</name>
</author>
<author>
<name sortKey="Sun, F" uniqKey="Sun F">F Sun</name>
</author>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Carelli, V" uniqKey="Carelli V">V Carelli</name>
</author>
<author>
<name sortKey="Achilli, A" uniqKey="Achilli A">A Achilli</name>
</author>
<author>
<name sortKey="Valentino, Ml" uniqKey="Valentino M">ML Valentino</name>
</author>
<author>
<name sortKey="Rengo, C" uniqKey="Rengo C">C Rengo</name>
</author>
<author>
<name sortKey="Semino, O" uniqKey="Semino O">O Semino</name>
</author>
<author>
<name sortKey="Pala, M" uniqKey="Pala M">M Pala</name>
</author>
<author>
<name sortKey="Olivieri, A" uniqKey="Olivieri A">A Olivieri</name>
</author>
<author>
<name sortKey="Mattiazzi, M" uniqKey="Mattiazzi M">M Mattiazzi</name>
</author>
<author>
<name sortKey="Pallotti, F" uniqKey="Pallotti F">F Pallotti</name>
</author>
<author>
<name sortKey="Carrara, F" uniqKey="Carrara F">F Carrara</name>
</author>
<author>
<name sortKey="Zeviani, M" uniqKey="Zeviani M">M Zeviani</name>
</author>
<author>
<name sortKey="Leuzzi, V" uniqKey="Leuzzi V">V Leuzzi</name>
</author>
<author>
<name sortKey="Carducci, C" uniqKey="Carducci C">C Carducci</name>
</author>
<author>
<name sortKey="Valle, G" uniqKey="Valle G">G Valle</name>
</author>
<author>
<name sortKey="Simionati, B" uniqKey="Simionati B">B Simionati</name>
</author>
<author>
<name sortKey="Mendieta, L" uniqKey="Mendieta L">L Mendieta</name>
</author>
<author>
<name sortKey="Salomao, S" uniqKey="Salomao S">S Salomao</name>
</author>
<author>
<name sortKey="Belfort, R" uniqKey="Belfort R">R Belfort</name>
</author>
<author>
<name sortKey="Sadun, Aa" uniqKey="Sadun A">AA Sadun</name>
</author>
<author>
<name sortKey="Torroni, A" uniqKey="Torroni A">A Torroni</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Collerton, J" uniqKey="Collerton J">J Collerton</name>
</author>
<author>
<name sortKey="Ashok, D" uniqKey="Ashok D">D Ashok</name>
</author>
<author>
<name sortKey="Martin Ruiz, C" uniqKey="Martin Ruiz C">C Martin-Ruiz</name>
</author>
<author>
<name sortKey="Pyle, A" uniqKey="Pyle A">A Pyle</name>
</author>
<author>
<name sortKey="Hudson, G" uniqKey="Hudson G">G Hudson</name>
</author>
<author>
<name sortKey="Yadegarfar, M" uniqKey="Yadegarfar M">M Yadegarfar</name>
</author>
<author>
<name sortKey="Davies, K" uniqKey="Davies K">K Davies</name>
</author>
<author>
<name sortKey="Jagger, C" uniqKey="Jagger C">C Jagger</name>
</author>
<author>
<name sortKey="Von Zglinicki, T" uniqKey="Von Zglinicki T">T von Zglinicki</name>
</author>
<author>
<name sortKey="Kirkwood, Tb" uniqKey="Kirkwood T">TB Kirkwood</name>
</author>
<author>
<name sortKey="Chinnery, Pf" uniqKey="Chinnery P">PF Chinnery</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Dato, S" uniqKey="Dato S">S Dato</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Rose, G" uniqKey="Rose G">G Rose</name>
</author>
<author>
<name sortKey="Altomare, K" uniqKey="Altomare K">K Altomare</name>
</author>
<author>
<name sortKey="Bellizzi, D" uniqKey="Bellizzi D">D Bellizzi</name>
</author>
<author>
<name sortKey="Mari, V" uniqKey="Mari V">V Mari</name>
</author>
<author>
<name sortKey="Feraco, E" uniqKey="Feraco E">E Feraco</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
<author>
<name sortKey="De Benedictis, G" uniqKey="De Benedictis G">G De Benedictis</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="De Benedictis, G" uniqKey="De Benedictis G">G De Benedictis</name>
</author>
<author>
<name sortKey="Rose, G" uniqKey="Rose G">G Rose</name>
</author>
<author>
<name sortKey="Carrieri, G" uniqKey="Carrieri G">G Carrieri</name>
</author>
<author>
<name sortKey="De Luca, M" uniqKey="De Luca M">M De Luca</name>
</author>
<author>
<name sortKey="Falcone, E" uniqKey="Falcone E">E Falcone</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Bonafe, M" uniqKey="Bonafe M">M Bonafe</name>
</author>
<author>
<name sortKey="Monti, D" uniqKey="Monti D">D Monti</name>
</author>
<author>
<name sortKey="Baggio, G" uniqKey="Baggio G">G Baggio</name>
</author>
<author>
<name sortKey="Bertolini, S" uniqKey="Bertolini S">S Bertolini</name>
</author>
<author>
<name sortKey="Mari, D" uniqKey="Mari D">D Mari</name>
</author>
<author>
<name sortKey="Mattace, R" uniqKey="Mattace R">R Mattace</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Dominguez Garrido, E" uniqKey="Dominguez Garrido E">E Domínguez-Garrido</name>
</author>
<author>
<name sortKey="Martinez Redondo, D" uniqKey="Martinez Redondo D">D Martínez-Redondo</name>
</author>
<author>
<name sortKey="Martin Ruiz, C" uniqKey="Martin Ruiz C">C Martín-Ruiz</name>
</author>
<author>
<name sortKey="G Mez Duran, A" uniqKey="G Mez Duran A">A Gómez-Durán</name>
</author>
<author>
<name sortKey="Ruiz Pesini, E" uniqKey="Ruiz Pesini E">E Ruiz-Pesini</name>
</author>
<author>
<name sortKey="Madero, P" uniqKey="Madero P">P Madero</name>
</author>
<author>
<name sortKey="Tamparillas, M" uniqKey="Tamparillas M">M Tamparillas</name>
</author>
<author>
<name sortKey="Montoya, J" uniqKey="Montoya J">J Montoya</name>
</author>
<author>
<name sortKey="Von Zglinicki, T" uniqKey="Von Zglinicki T">T von Zglinicki</name>
</author>
<author>
<name sortKey="Diez Sanchez, C" uniqKey="Diez Sanchez C">C Díez-Sánchez</name>
</author>
<author>
<name sortKey="L Pez Perez, Mj" uniqKey="L Pez Perez M">MJ López-Pérez</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Greaves, Lc" uniqKey="Greaves L">LC Greaves</name>
</author>
<author>
<name sortKey="Turnbull, Dm" uniqKey="Turnbull D">DM Turnbull</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Hutchin, T" uniqKey="Hutchin T">T Hutchin</name>
</author>
<author>
<name sortKey="Cortopassi, G" uniqKey="Cortopassi G">G Cortopassi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Ivanova, R" uniqKey="Ivanova R">R Ivanova</name>
</author>
<author>
<name sortKey="Lepage, V" uniqKey="Lepage V">V Lepage</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Lagouge, M" uniqKey="Lagouge M">M Lagouge</name>
</author>
<author>
<name sortKey="Larsson, Ng" uniqKey="Larsson N">NG Larsson</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Man, Py" uniqKey="Man P">PY Man</name>
</author>
<author>
<name sortKey="Howell, N" uniqKey="Howell N">N Howell</name>
</author>
<author>
<name sortKey="Mackey, Da" uniqKey="Mackey D">DA Mackey</name>
</author>
<author>
<name sortKey="N Rby, S" uniqKey="N Rby S">S Nørby</name>
</author>
<author>
<name sortKey="Rosenberg, T" uniqKey="Rosenberg T">T Rosenberg</name>
</author>
<author>
<name sortKey="Turnbull, Dm" uniqKey="Turnbull D">DM Turnbull</name>
</author>
<author>
<name sortKey="Chinnery, Pf" uniqKey="Chinnery P">PF Chinnery</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Moilanen, Js" uniqKey="Moilanen J">JS Moilanen</name>
</author>
<author>
<name sortKey="Finnila, S" uniqKey="Finnila S">S Finnila</name>
</author>
<author>
<name sortKey="Majamaa, K" uniqKey="Majamaa K">K Majamaa</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Montiel Sosa, F" uniqKey="Montiel Sosa F">F Montiel-Sosa</name>
</author>
<author>
<name sortKey="Ruiz Pesini, E" uniqKey="Ruiz Pesini E">E Ruiz-Pesini</name>
</author>
<author>
<name sortKey="Enriquez, Ja" uniqKey="Enriquez J">JA Enríquez</name>
</author>
<author>
<name sortKey="Marcuello, A" uniqKey="Marcuello A">A Marcuello</name>
</author>
<author>
<name sortKey="Diez Sanchez, C" uniqKey="Diez Sanchez C">C Díez-Sánchez</name>
</author>
<author>
<name sortKey="Montoya, J" uniqKey="Montoya J">J Montoya</name>
</author>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
<author>
<name sortKey="L Pez Perez, Mj" uniqKey="L Pez Perez M">MJ López-Pérez</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Niemi, Ak" uniqKey="Niemi A">AK Niemi</name>
</author>
<author>
<name sortKey="Hervonen, A" uniqKey="Hervonen A">A Hervonen</name>
</author>
<author>
<name sortKey="Hurme, M" uniqKey="Hurme M">M Hurme</name>
</author>
<author>
<name sortKey="Karhunen, Pj" uniqKey="Karhunen P">PJ Karhunen</name>
</author>
<author>
<name sortKey="Jylh, M" uniqKey="Jylh M">M Jylhä</name>
</author>
<author>
<name sortKey="Majamaa, K" uniqKey="Majamaa K">K Majamaa</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Van Oven, M" uniqKey="Van Oven M">M van Oven</name>
</author>
<author>
<name sortKey="Kayser, M" uniqKey="Kayser M">M Kayser</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Rose, G" uniqKey="Rose G">G Rose</name>
</author>
<author>
<name sortKey="Bellizzi, D" uniqKey="Bellizzi D">D Bellizzi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Pin S, T" uniqKey="Pin S T">T Pinós</name>
</author>
<author>
<name sortKey="Nogales Gadea, G" uniqKey="Nogales Gadea G">G Nogales-Gadea</name>
</author>
<author>
<name sortKey="Ruiz, Jr" uniqKey="Ruiz J">JR Ruiz</name>
</author>
<author>
<name sortKey="Rodriguez Romo, G" uniqKey="Rodriguez Romo G">G Rodríguez-Romo</name>
</author>
<author>
<name sortKey="Santiago Dorrego, C" uniqKey="Santiago Dorrego C">C Santiago-Dorrego</name>
</author>
<author>
<name sortKey="Fiuza Luces, C" uniqKey="Fiuza Luces C">C Fiuza-Luces</name>
</author>
<author>
<name sortKey="G Mez Gallego, F" uniqKey="G Mez Gallego F">F Gómez-Gallego</name>
</author>
<author>
<name sortKey="Cano Nieto, A" uniqKey="Cano Nieto A">A Cano-Nieto</name>
</author>
<author>
<name sortKey="Garatachea, N" uniqKey="Garatachea N">N Garatachea</name>
</author>
<author>
<name sortKey="Moran, M" uniqKey="Moran M">M Morán</name>
</author>
<author>
<name sortKey="Angel Martin, M" uniqKey="Angel Martin M">M Angel Martín</name>
</author>
<author>
<name sortKey="Arenas, J" uniqKey="Arenas J">J Arenas</name>
</author>
<author>
<name sortKey="Andreu, Al" uniqKey="Andreu A">AL Andreu</name>
</author>
<author>
<name sortKey="Lucia, A" uniqKey="Lucia A">A Lucia</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Rollins, B" uniqKey="Rollins B">B Rollins</name>
</author>
<author>
<name sortKey="Martin, Mv" uniqKey="Martin M">MV Martin</name>
</author>
<author>
<name sortKey="Sequeira, Pa" uniqKey="Sequeira P">PA Sequeira</name>
</author>
<author>
<name sortKey="Moon, Ea" uniqKey="Moon E">EA Moon</name>
</author>
<author>
<name sortKey="Morgan, Lz" uniqKey="Morgan L">LZ Morgan</name>
</author>
<author>
<name sortKey="Watson, Sj" uniqKey="Watson S">SJ Watson</name>
</author>
<author>
<name sortKey="Schatzberg, A" uniqKey="Schatzberg A">A Schatzberg</name>
</author>
<author>
<name sortKey="Akil, H" uniqKey="Akil H">H Akil</name>
</author>
<author>
<name sortKey="Myers, Rm" uniqKey="Myers R">RM Myers</name>
</author>
<author>
<name sortKey="Jones, Eg" uniqKey="Jones E">EG Jones</name>
</author>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
<author>
<name sortKey="Bunney, We" uniqKey="Bunney W">WE Bunney</name>
</author>
<author>
<name sortKey="Vawter, Mp" uniqKey="Vawter M">MP Vawter</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Rose, G" uniqKey="Rose G">G Rose</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Carrieri, G" uniqKey="Carrieri G">G Carrieri</name>
</author>
<author>
<name sortKey="Altomare, K" uniqKey="Altomare K">K Altomare</name>
</author>
<author>
<name sortKey="Greco, V" uniqKey="Greco V">V Greco</name>
</author>
<author>
<name sortKey="Bertolini, S" uniqKey="Bertolini S">S Bertolini</name>
</author>
<author>
<name sortKey="Bonafe, M" uniqKey="Bonafe M">M Bonafè</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
<author>
<name sortKey="De Benedictis, G" uniqKey="De Benedictis G">G De Benedictis</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Rose, G" uniqKey="Rose G">G Rose</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
<author>
<name sortKey="De Benedictis, G" uniqKey="De Benedictis G">G De Benedictis</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Ross, Oa" uniqKey="Ross O">OA Ross</name>
</author>
<author>
<name sortKey="Mccormack, R" uniqKey="Mccormack R">R McCormack</name>
</author>
<author>
<name sortKey="Curran, Md" uniqKey="Curran M">MD Curran</name>
</author>
<author>
<name sortKey="Duguid, Ra" uniqKey="Duguid R">RA Duguid</name>
</author>
<author>
<name sortKey="Barnett, Ya" uniqKey="Barnett Y">YA Barnett</name>
</author>
<author>
<name sortKey="Rea, Im" uniqKey="Rea I">IM Rea</name>
</author>
<author>
<name sortKey="Middleton, D" uniqKey="Middleton D">D Middleton</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Ruiz Pesini, E" uniqKey="Ruiz Pesini E">E Ruiz-Pesini</name>
</author>
<author>
<name sortKey="Lape A, Ac" uniqKey="Lape A A">AC Lapeña</name>
</author>
<author>
<name sortKey="Diez Sanchez, C" uniqKey="Diez Sanchez C">C Díez-Sánchez</name>
</author>
<author>
<name sortKey="Perez Martos, A" uniqKey="Perez Martos A">A Pérez-Martos</name>
</author>
<author>
<name sortKey="Montoya, J" uniqKey="Montoya J">J Montoya</name>
</author>
<author>
<name sortKey="Alvarez, E" uniqKey="Alvarez E">E Alvarez</name>
</author>
<author>
<name sortKey="Diaz, M" uniqKey="Diaz M">M Díaz</name>
</author>
<author>
<name sortKey="Urries, A" uniqKey="Urries A">A Urriés</name>
</author>
<author>
<name sortKey="Montoro, L" uniqKey="Montoro L">L Montoro</name>
</author>
<author>
<name sortKey="L Pez Perez, Mj" uniqKey="L Pez Perez M">MJ López-Pérez</name>
</author>
<author>
<name sortKey="Enriquez, Ja" uniqKey="Enriquez J">JA Enríquez</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Santoro, A" uniqKey="Santoro A">A Santoro</name>
</author>
<author>
<name sortKey="Salvioli, S" uniqKey="Salvioli S">S Salvioli</name>
</author>
<author>
<name sortKey="Raule, N" uniqKey="Raule N">N Raule</name>
</author>
<author>
<name sortKey="Capri, M" uniqKey="Capri M">M Capri</name>
</author>
<author>
<name sortKey="Sevini, F" uniqKey="Sevini F">F Sevini</name>
</author>
<author>
<name sortKey="Valensin, S" uniqKey="Valensin S">S Valensin</name>
</author>
<author>
<name sortKey="Monti, D" uniqKey="Monti D">D Monti</name>
</author>
<author>
<name sortKey="Bellizzi, D" uniqKey="Bellizzi D">D Bellizzi</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Rose, G" uniqKey="Rose G">G Rose</name>
</author>
<author>
<name sortKey="De Benedictis, G" uniqKey="De Benedictis G">G De Benedictis</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Santoro, A" uniqKey="Santoro A">A Santoro</name>
</author>
<author>
<name sortKey="Balbi, V" uniqKey="Balbi V">V Balbi</name>
</author>
<author>
<name sortKey="Balducci, E" uniqKey="Balducci E">E Balducci</name>
</author>
<author>
<name sortKey="Pirazzini, C" uniqKey="Pirazzini C">C Pirazzini</name>
</author>
<author>
<name sortKey="Rosini, F" uniqKey="Rosini F">F Rosini</name>
</author>
<author>
<name sortKey="Tavano, F" uniqKey="Tavano F">F Tavano</name>
</author>
<author>
<name sortKey="Achilli, A" uniqKey="Achilli A">A Achilli</name>
</author>
<author>
<name sortKey="Siviero, P" uniqKey="Siviero P">P Siviero</name>
</author>
<author>
<name sortKey="Minicuci, N" uniqKey="Minicuci N">N Minicuci</name>
</author>
<author>
<name sortKey="Bellavista, E" uniqKey="Bellavista E">E Bellavista</name>
</author>
<author>
<name sortKey="Mishto, M" uniqKey="Mishto M">M Mishto</name>
</author>
<author>
<name sortKey="Salvioli, S" uniqKey="Salvioli S">S Salvioli</name>
</author>
<author>
<name sortKey="Marchegiani, F" uniqKey="Marchegiani F">F Marchegiani</name>
</author>
<author>
<name sortKey="Cardelli, M" uniqKey="Cardelli M">M Cardelli</name>
</author>
<author>
<name sortKey="Olivieri, F" uniqKey="Olivieri F">F Olivieri</name>
</author>
<author>
<name sortKey="Nacmias, B" uniqKey="Nacmias B">B Nacmias</name>
</author>
<author>
<name sortKey="Chiamenti, Am" uniqKey="Chiamenti A">AM Chiamenti</name>
</author>
<author>
<name sortKey="Benussi, L" uniqKey="Benussi L">L Benussi</name>
</author>
<author>
<name sortKey="Ghidoni, R" uniqKey="Ghidoni R">R Ghidoni</name>
</author>
<author>
<name sortKey="Rose, G" uniqKey="Rose G">G Rose</name>
</author>
<author>
<name sortKey="Gabelli, C" uniqKey="Gabelli C">C Gabelli</name>
</author>
<author>
<name sortKey="Binetti, G" uniqKey="Binetti G">G Binetti</name>
</author>
<author>
<name sortKey="Sorbi, S" uniqKey="Sorbi S">S Sorbi</name>
</author>
<author>
<name sortKey="Crepaldi, G" uniqKey="Crepaldi G">G Crepaldi</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Torroni, A" uniqKey="Torroni A">A Torroni</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Shoffner, Jm" uniqKey="Shoffner J">JM Shoffner</name>
</author>
<author>
<name sortKey="Brown, Md" uniqKey="Brown M">MD Brown</name>
</author>
<author>
<name sortKey="Torroni, A" uniqKey="Torroni A">A Torroni</name>
</author>
<author>
<name sortKey="Lott, Mt" uniqKey="Lott M">MT Lott</name>
</author>
<author>
<name sortKey="Cabell, Mf" uniqKey="Cabell M">MF Cabell</name>
</author>
<author>
<name sortKey="Mirra, Ss" uniqKey="Mirra S">SS Mirra</name>
</author>
<author>
<name sortKey="Beal, Mf" uniqKey="Beal M">MF Beal</name>
</author>
<author>
<name sortKey="Yang, Cc" uniqKey="Yang C">CC Yang</name>
</author>
<author>
<name sortKey="Gearing, M" uniqKey="Gearing M">M Gearing</name>
</author>
<author>
<name sortKey="Salvo, R" uniqKey="Salvo R">R Salvo</name>
</author>
<author>
<name sortKey="Watts, Rl" uniqKey="Watts R">RL Watts</name>
</author>
<author>
<name sortKey="Juncos, Jl" uniqKey="Juncos J">JL Juncos</name>
</author>
<author>
<name sortKey="Hansen, La" uniqKey="Hansen L">LA Hansen</name>
</author>
<author>
<name sortKey="Crain, Bj" uniqKey="Crain B">BJ Crain</name>
</author>
<author>
<name sortKey="Fayad, M" uniqKey="Fayad M">M Fayad</name>
</author>
<author>
<name sortKey="Reckord, Cl" uniqKey="Reckord C">CL Reckord</name>
</author>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Skytthe, A" uniqKey="Skytthe A">A Skytthe</name>
</author>
<author>
<name sortKey="Valensin, S" uniqKey="Valensin S">S Valensin</name>
</author>
<author>
<name sortKey="Jeune, B" uniqKey="Jeune B">B Jeune</name>
</author>
<author>
<name sortKey="Cevenini, E" uniqKey="Cevenini E">E Cevenini</name>
</author>
<author>
<name sortKey="Balard, F" uniqKey="Balard F">F Balard</name>
</author>
<author>
<name sortKey="Beekman, M" uniqKey="Beekman M">M Beekman</name>
</author>
<author>
<name sortKey="Bezrukov, V" uniqKey="Bezrukov V">V Bezrukov</name>
</author>
<author>
<name sortKey="Blanche, H" uniqKey="Blanche H">H Blanche</name>
</author>
<author>
<name sortKey="Bolund, L" uniqKey="Bolund L">L Bolund</name>
</author>
<author>
<name sortKey="Broczek, K" uniqKey="Broczek K">K Broczek</name>
</author>
<author>
<name sortKey="Carru, C" uniqKey="Carru C">C Carru</name>
</author>
<author>
<name sortKey="Christensen, K" uniqKey="Christensen K">K Christensen</name>
</author>
<author>
<name sortKey="Christiansen, L" uniqKey="Christiansen L">L Christiansen</name>
</author>
<author>
<name sortKey="Collerton, Jc" uniqKey="Collerton J">JC Collerton</name>
</author>
<author>
<name sortKey="Cotichini, R" uniqKey="Cotichini R">R Cotichini</name>
</author>
<author>
<name sortKey="De Craen, Aj" uniqKey="De Craen A">AJ de Craen</name>
</author>
<author>
<name sortKey="Dato, S" uniqKey="Dato S">S Dato</name>
</author>
<author>
<name sortKey="Davies, K" uniqKey="Davies K">K Davies</name>
</author>
<author>
<name sortKey="De Benedictis, G" uniqKey="De Benedictis G">G De Benedictis</name>
</author>
<author>
<name sortKey="Deiana, L" uniqKey="Deiana L">L Deiana</name>
</author>
<author>
<name sortKey="Flachsbart, F" uniqKey="Flachsbart F">F Flachsbart</name>
</author>
<author>
<name sortKey="Gampe, J" uniqKey="Gampe J">J Gampe</name>
</author>
<author>
<name sortKey="Gilbault, C" uniqKey="Gilbault C">C Gilbault</name>
</author>
<author>
<name sortKey="Gonos, Es" uniqKey="Gonos E">ES Gonos</name>
</author>
<author>
<name sortKey="Haimes, E" uniqKey="Haimes E">E Haimes</name>
</author>
<author>
<name sortKey="Hervonen, A" uniqKey="Hervonen A">A Hervonen</name>
</author>
<author>
<name sortKey="Hurme, Ma" uniqKey="Hurme M">MA Hurme</name>
</author>
<author>
<name sortKey="Janiszewska, D" uniqKey="Janiszewska D">D Janiszewska</name>
</author>
<author>
<name sortKey="Jylh, M" uniqKey="Jylh M">M Jylhä</name>
</author>
<author>
<name sortKey="Kirkwood, Tb" uniqKey="Kirkwood T">TB Kirkwood</name>
</author>
<author>
<name sortKey="Kristensen, P" uniqKey="Kristensen P">P Kristensen</name>
</author>
<author>
<name sortKey="Laiho, P" uniqKey="Laiho P">P Laiho</name>
</author>
<author>
<name sortKey="Leon, A" uniqKey="Leon A">A Leon</name>
</author>
<author>
<name sortKey="Marchisio, A" uniqKey="Marchisio A">A Marchisio</name>
</author>
<author>
<name sortKey="Masciulli, R" uniqKey="Masciulli R">R Masciulli</name>
</author>
<author>
<name sortKey="Nebel, A" uniqKey="Nebel A">A Nebel</name>
</author>
<author>
<name sortKey="Passarino, G" uniqKey="Passarino G">G Passarino</name>
</author>
<author>
<name sortKey="Pelicci, G" uniqKey="Pelicci G">G Pelicci</name>
</author>
<author>
<name sortKey="Peltonen, L" uniqKey="Peltonen L">L Peltonen</name>
</author>
<author>
<name sortKey="Perola, M" uniqKey="Perola M">M Perola</name>
</author>
<author>
<name sortKey="Poulain, M" uniqKey="Poulain M">M Poulain</name>
</author>
<author>
<name sortKey="Rea, Im" uniqKey="Rea I">IM Rea</name>
</author>
<author>
<name sortKey="Remacle, J" uniqKey="Remacle J">J Remacle</name>
</author>
<author>
<name sortKey="Robine, Jm" uniqKey="Robine J">JM Robine</name>
</author>
<author>
<name sortKey="Schreiber, S" uniqKey="Schreiber S">S Schreiber</name>
</author>
<author>
<name sortKey="Scurti, M" uniqKey="Scurti M">M Scurti</name>
</author>
<author>
<name sortKey="Sevini, F" uniqKey="Sevini F">F Sevini</name>
</author>
<author>
<name sortKey="Sikora, E" uniqKey="Sikora E">E Sikora</name>
</author>
<author>
<name sortKey="Skouteri, A" uniqKey="Skouteri A">A Skouteri</name>
</author>
<author>
<name sortKey="Slagboom, Pe" uniqKey="Slagboom P">PE Slagboom</name>
</author>
<author>
<name sortKey="Spazzafumo, L" uniqKey="Spazzafumo L">L Spazzafumo</name>
</author>
<author>
<name sortKey="Stazi, Ma" uniqKey="Stazi M">MA Stazi</name>
</author>
<author>
<name sortKey="Toccaceli, V" uniqKey="Toccaceli V">V Toccaceli</name>
</author>
<author>
<name sortKey="Toussaint, O" uniqKey="Toussaint O">O Toussaint</name>
</author>
<author>
<name sortKey="Tornwall, O" uniqKey="Tornwall O">O Törnwall</name>
</author>
<author>
<name sortKey="Vaupel, Jw" uniqKey="Vaupel J">JW Vaupel</name>
</author>
<author>
<name sortKey="Voutetakis, K" uniqKey="Voutetakis K">K Voutetakis</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Suissa, S" uniqKey="Suissa S">S Suissa</name>
</author>
<author>
<name sortKey="Wang, Z" uniqKey="Wang Z">Z Wang</name>
</author>
<author>
<name sortKey="Poole, J" uniqKey="Poole J">J Poole</name>
</author>
<author>
<name sortKey="Wittkopp, S" uniqKey="Wittkopp S">S Wittkopp</name>
</author>
<author>
<name sortKey="Feder, J" uniqKey="Feder J">J Feder</name>
</author>
<author>
<name sortKey="Shutt, Te" uniqKey="Shutt T">TE Shutt</name>
</author>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
<author>
<name sortKey="Shadel, Gs" uniqKey="Shadel G">GS Shadel</name>
</author>
<author>
<name sortKey="Mishmar, D" uniqKey="Mishmar D">D Mishmar</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Tanaka, M" uniqKey="Tanaka M">M Tanaka</name>
</author>
<author>
<name sortKey="Gong, Js" uniqKey="Gong J">JS Gong</name>
</author>
<author>
<name sortKey="Zhang, J" uniqKey="Zhang J">J Zhang</name>
</author>
<author>
<name sortKey="Yoneda, M" uniqKey="Yoneda M">M Yoneda</name>
</author>
<author>
<name sortKey="Yagi, K" uniqKey="Yagi K">K Yagi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Tanaka, M" uniqKey="Tanaka M">M Tanaka</name>
</author>
<author>
<name sortKey="Gong, J" uniqKey="Gong J">J Gong</name>
</author>
<author>
<name sortKey="Zhang, J" uniqKey="Zhang J">J Zhang</name>
</author>
<author>
<name sortKey="Yamada, Y" uniqKey="Yamada Y">Y Yamada</name>
</author>
<author>
<name sortKey="Borgeld, Hj" uniqKey="Borgeld H">HJ Borgeld</name>
</author>
<author>
<name sortKey="Yagi, K" uniqKey="Yagi K">K Yagi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Torroni, A" uniqKey="Torroni A">A Torroni</name>
</author>
<author>
<name sortKey="Huoponen, K" uniqKey="Huoponen K">K Huoponen</name>
</author>
<author>
<name sortKey="Francalacci, P" uniqKey="Francalacci P">P Francalacci</name>
</author>
<author>
<name sortKey="Petrozzi, M" uniqKey="Petrozzi M">M Petrozzi</name>
</author>
<author>
<name sortKey="Morelli, L" uniqKey="Morelli L">L Morelli</name>
</author>
<author>
<name sortKey="Scozzari, R" uniqKey="Scozzari R">R Scozzari</name>
</author>
<author>
<name sortKey="Obinu, D" uniqKey="Obinu D">D Obinu</name>
</author>
<author>
<name sortKey="Savontaus, Ml" uniqKey="Savontaus M">ML Savontaus</name>
</author>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Torroni, A" uniqKey="Torroni A">A Torroni</name>
</author>
<author>
<name sortKey="Petrozzi, M" uniqKey="Petrozzi M">M Petrozzi</name>
</author>
<author>
<name sortKey="D Rbano, L" uniqKey="D Rbano L">L D’Urbano</name>
</author>
<author>
<name sortKey="Sellitto, D" uniqKey="Sellitto D">D Sellitto</name>
</author>
<author>
<name sortKey="Zeviani, M" uniqKey="Zeviani M">M Zeviani</name>
</author>
<author>
<name sortKey="Carrara, F" uniqKey="Carrara F">F Carrara</name>
</author>
<author>
<name sortKey="Carducci, C" uniqKey="Carducci C">C Carducci</name>
</author>
<author>
<name sortKey="Leuzzi, V" uniqKey="Leuzzi V">V Leuzzi</name>
</author>
<author>
<name sortKey="Carelli, V" uniqKey="Carelli V">V Carelli</name>
</author>
<author>
<name sortKey="Barboni, P" uniqKey="Barboni P">P Barboni</name>
</author>
<author>
<name sortKey="De Negri, A" uniqKey="De Negri A">A De Negri</name>
</author>
<author>
<name sortKey="Scozzari, R" uniqKey="Scozzari R">R Scozzari</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Vianello, D" uniqKey="Vianello D">D Vianello</name>
</author>
<author>
<name sortKey="Sevini, F" uniqKey="Sevini F">F Sevini</name>
</author>
<author>
<name sortKey="Castellani, G" uniqKey="Castellani G">G Castellani</name>
</author>
<author>
<name sortKey="Lomartire, L" uniqKey="Lomartire L">L Lomartire</name>
</author>
<author>
<name sortKey="Capri, M" uniqKey="Capri M">M Capri</name>
</author>
<author>
<name sortKey="Franceschi, C" uniqKey="Franceschi C">C Franceschi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Wallace, Dc" uniqKey="Wallace D">DC Wallace</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Van Der Walt, Jm" uniqKey="Van Der Walt J">JM van der Walt</name>
</author>
<author>
<name sortKey="Nicodemus, Kk" uniqKey="Nicodemus K">KK Nicodemus</name>
</author>
<author>
<name sortKey="Martin, Er" uniqKey="Martin E">ER Martin</name>
</author>
<author>
<name sortKey="Scott, Wk" uniqKey="Scott W">WK Scott</name>
</author>
<author>
<name sortKey="Nance, Ma" uniqKey="Nance M">MA Nance</name>
</author>
<author>
<name sortKey="Watts, Rl" uniqKey="Watts R">RL Watts</name>
</author>
<author>
<name sortKey="Hubble, Jp" uniqKey="Hubble J">JP Hubble</name>
</author>
<author>
<name sortKey="Haines, Jl" uniqKey="Haines J">JL Haines</name>
</author>
<author>
<name sortKey="Koller, Wc" uniqKey="Koller W">WC Koller</name>
</author>
<author>
<name sortKey="Lyons, K" uniqKey="Lyons K">K Lyons</name>
</author>
<author>
<name sortKey="Pahwa, R" uniqKey="Pahwa R">R Pahwa</name>
</author>
<author>
<name sortKey="Stern, Mb" uniqKey="Stern M">MB Stern</name>
</author>
<author>
<name sortKey="Colcher, A" uniqKey="Colcher A">A Colcher</name>
</author>
<author>
<name sortKey="Hiner, Bc" uniqKey="Hiner B">BC Hiner</name>
</author>
<author>
<name sortKey="Jankovic, J" uniqKey="Jankovic J">J Jankovic</name>
</author>
<author>
<name sortKey="Ondo, Wg" uniqKey="Ondo W">WG Ondo</name>
</author>
<author>
<name sortKey="Allen, Fh" uniqKey="Allen F">FH Allen</name>
</author>
<author>
<name sortKey="Goetz, Cg" uniqKey="Goetz C">CG Goetz</name>
</author>
<author>
<name sortKey="Small, Gw" uniqKey="Small G">GW Small</name>
</author>
<author>
<name sortKey="Mastaglia, F" uniqKey="Mastaglia F">F Mastaglia</name>
</author>
<author>
<name sortKey="Stajich, Jm" uniqKey="Stajich J">JM Stajich</name>
</author>
<author>
<name sortKey="Mclaurin, Ac" uniqKey="Mclaurin A">AC McLaurin</name>
</author>
<author>
<name sortKey="Middleton, Lt" uniqKey="Middleton L">LT Middleton</name>
</author>
<author>
<name sortKey="Scott, Bl" uniqKey="Scott B">BL Scott</name>
</author>
<author>
<name sortKey="Schmechel, De" uniqKey="Schmechel D">DE Schmechel</name>
</author>
<author>
<name sortKey="Pericak Vance, Ma" uniqKey="Pericak Vance M">MA Pericak-Vance</name>
</author>
<author>
<name sortKey="Vance, Jm" uniqKey="Vance J">JM Vance</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Wang, J" uniqKey="Wang J">J Wang</name>
</author>
<author>
<name sortKey="Wang, W" uniqKey="Wang W">W Wang</name>
</author>
<author>
<name sortKey="Li, R" uniqKey="Li R">R Li</name>
</author>
<author>
<name sortKey="Li, Y" uniqKey="Li Y">Y Li</name>
</author>
<author>
<name sortKey="Tian, G" uniqKey="Tian G">G Tian</name>
</author>
<author>
<name sortKey="Goodman, L" uniqKey="Goodman L">L Goodman</name>
</author>
<author>
<name sortKey="Fan, W" uniqKey="Fan W">W Fan</name>
</author>
<author>
<name sortKey="Zhang, J" uniqKey="Zhang J">J Zhang</name>
</author>
<author>
<name sortKey="Li, J" uniqKey="Li J">J Li</name>
</author>
<author>
<name sortKey="Zhang, J" uniqKey="Zhang J">J Zhang</name>
</author>
<author>
<name sortKey="Guo, Y" uniqKey="Guo Y">Y Guo</name>
</author>
<author>
<name sortKey="Feng, B" uniqKey="Feng B">B Feng</name>
</author>
<author>
<name sortKey="Li, H" uniqKey="Li H">H Li</name>
</author>
<author>
<name sortKey="Lu, Y" uniqKey="Lu Y">Y Lu</name>
</author>
<author>
<name sortKey="Fang, X" uniqKey="Fang X">X Fang</name>
</author>
<author>
<name sortKey="Liang, H" uniqKey="Liang H">H Liang</name>
</author>
<author>
<name sortKey="Du, Z" uniqKey="Du Z">Z Du</name>
</author>
<author>
<name sortKey="Li, D" uniqKey="Li D">D Li</name>
</author>
<author>
<name sortKey="Zhao, Y" uniqKey="Zhao Y">Y Zhao</name>
</author>
<author>
<name sortKey="Hu, Y" uniqKey="Hu Y">Y Hu</name>
</author>
<author>
<name sortKey="Yang, Z" uniqKey="Yang Z">Z Yang</name>
</author>
<author>
<name sortKey="Zheng, H" uniqKey="Zheng H">H Zheng</name>
</author>
<author>
<name sortKey="Hellmann, I" uniqKey="Hellmann I">I Hellmann</name>
</author>
<author>
<name sortKey="Inouye, M" uniqKey="Inouye M">M Inouye</name>
</author>
<author>
<name sortKey="Pool, J" uniqKey="Pool J">J Pool</name>
</author>
<author>
<name sortKey="Yi, X" uniqKey="Yi X">X Yi</name>
</author>
<author>
<name sortKey="Zhao, J" uniqKey="Zhao J">J Zhao</name>
</author>
<author>
<name sortKey="Duan, J" uniqKey="Duan J">J Duan</name>
</author>
<author>
<name sortKey="Zhou, Y" uniqKey="Zhou Y">Y Zhou</name>
</author>
<author>
<name sortKey="Qin, J" uniqKey="Qin J">J Qin</name>
</author>
<author>
<name sortKey="Ma, L" uniqKey="Ma L">L Ma</name>
</author>
<author>
<name sortKey="Li, G" uniqKey="Li G">G Li</name>
</author>
<author>
<name sortKey="Yang, Z" uniqKey="Yang Z">Z Yang</name>
</author>
<author>
<name sortKey="Zhang, G" uniqKey="Zhang G">G Zhang</name>
</author>
<author>
<name sortKey="Yang, B" uniqKey="Yang B">B Yang</name>
</author>
<author>
<name sortKey="Yu, C" uniqKey="Yu C">C Yu</name>
</author>
<author>
<name sortKey="Liang, F" uniqKey="Liang F">F Liang</name>
</author>
<author>
<name sortKey="Li, W" uniqKey="Li W">W Li</name>
</author>
<author>
<name sortKey="Li, S" uniqKey="Li S">S Li</name>
</author>
<author>
<name sortKey="Li, D" uniqKey="Li D">D Li</name>
</author>
<author>
<name sortKey="Ni, P" uniqKey="Ni P">P Ni</name>
</author>
<author>
<name sortKey="Ruan, J" uniqKey="Ruan J">J Ruan</name>
</author>
<author>
<name sortKey="Li, Q" uniqKey="Li Q">Q Li</name>
</author>
<author>
<name sortKey="Zhu, H" uniqKey="Zhu H">H Zhu</name>
</author>
<author>
<name sortKey="Liu, D" uniqKey="Liu D">D Liu</name>
</author>
<author>
<name sortKey="Lu, Z" uniqKey="Lu Z">Z Lu</name>
</author>
<author>
<name sortKey="Li, N" uniqKey="Li N">N Li</name>
</author>
<author>
<name sortKey="Guo, G" uniqKey="Guo G">G Guo</name>
</author>
<author>
<name sortKey="Zhang, J" uniqKey="Zhang J">J Zhang</name>
</author>
<author>
<name sortKey="Ye, J" uniqKey="Ye J">J Ye</name>
</author>
<author>
<name sortKey="Fang, L" uniqKey="Fang L">L Fang</name>
</author>
<author>
<name sortKey="Hao, Q" uniqKey="Hao Q">Q Hao</name>
</author>
<author>
<name sortKey="Chen, Q" uniqKey="Chen Q">Q Chen</name>
</author>
<author>
<name sortKey="Liang, Y" uniqKey="Liang Y">Y Liang</name>
</author>
<author>
<name sortKey="Su, Y" uniqKey="Su Y">Y Su</name>
</author>
<author>
<name sortKey="San, A" uniqKey="San A">A San</name>
</author>
<author>
<name sortKey="Ping, C" uniqKey="Ping C">C Ping</name>
</author>
<author>
<name sortKey="Yang, S" uniqKey="Yang S">S Yang</name>
</author>
<author>
<name sortKey="Chen, F" uniqKey="Chen F">F Chen</name>
</author>
<author>
<name sortKey="Li, L" uniqKey="Li L">L Li</name>
</author>
<author>
<name sortKey="Zhou, K" uniqKey="Zhou K">K Zhou</name>
</author>
<author>
<name sortKey="Zheng, H" uniqKey="Zheng H">H Zheng</name>
</author>
<author>
<name sortKey="Ren, Y" uniqKey="Ren Y">Y Ren</name>
</author>
<author>
<name sortKey="Yang, L" uniqKey="Yang L">L Yang</name>
</author>
<author>
<name sortKey="Gao, Y" uniqKey="Gao Y">Y Gao</name>
</author>
<author>
<name sortKey="Yang, G" uniqKey="Yang G">G Yang</name>
</author>
<author>
<name sortKey="Li, Z" uniqKey="Li Z">Z Li</name>
</author>
<author>
<name sortKey="Feng, X" uniqKey="Feng X">X Feng</name>
</author>
<author>
<name sortKey="Kristiansen, K" uniqKey="Kristiansen K">K Kristiansen</name>
</author>
<author>
<name sortKey="Wong, Gk" uniqKey="Wong G">GK Wong</name>
</author>
<author>
<name sortKey="Nielsen, R" uniqKey="Nielsen R">R Nielsen</name>
</author>
<author>
<name sortKey="Durbin, R" uniqKey="Durbin R">R Durbin</name>
</author>
<author>
<name sortKey="Bolund, L" uniqKey="Bolund L">L Bolund</name>
</author>
<author>
<name sortKey="Zhang, X" uniqKey="Zhang X">X Zhang</name>
</author>
<author>
<name sortKey="Li, S" uniqKey="Li S">S Li</name>
</author>
<author>
<name sortKey="Yang, H" uniqKey="Yang H">H Yang</name>
</author>
<author>
<name sortKey="Wang, J" uniqKey="Wang J">J Wang</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Wu, Mc" uniqKey="Wu M">MC Wu</name>
</author>
<author>
<name sortKey="Lee, S" uniqKey="Lee S">S Lee</name>
</author>
<author>
<name sortKey="Cai, T" uniqKey="Cai T">T Cai</name>
</author>
<author>
<name sortKey="Li, Y" uniqKey="Li Y">Y Li</name>
</author>
<author>
<name sortKey="Boehnke, M" uniqKey="Boehnke M">M Boehnke</name>
</author>
<author>
<name sortKey="Lin, X" uniqKey="Lin X">X Lin</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zheng, X" uniqKey="Zheng X">X Zheng</name>
</author>
<author>
<name sortKey="Levine, D" uniqKey="Levine D">D Levine</name>
</author>
<author>
<name sortKey="Shen, J" uniqKey="Shen J">J Shen</name>
</author>
<author>
<name sortKey="Gogarten, Sm" uniqKey="Gogarten S">SM Gogarten</name>
</author>
<author>
<name sortKey="Laurie, C" uniqKey="Laurie C">C Laurie</name>
</author>
<author>
<name sortKey="Weir, Bs" uniqKey="Weir B">BS Weir</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<pmc article-type="research-article">
<pmc-dir>properties open_access</pmc-dir>
<front>
<journal-meta>
<journal-id journal-id-type="nlm-ta">Aging Cell</journal-id>
<journal-id journal-id-type="iso-abbrev">Aging Cell</journal-id>
<journal-id journal-id-type="publisher-id">acel</journal-id>
<journal-title-group>
<journal-title>Aging Cell</journal-title>
</journal-title-group>
<issn pub-type="ppub">1474-9718</issn>
<issn pub-type="epub">1474-9726</issn>
<publisher>
<publisher-name>BlackWell Publishing Ltd</publisher-name>
<publisher-loc>Oxford, UK</publisher-loc>
</publisher>
</journal-meta>
<article-meta>
<article-id pub-id-type="pmid">24341918</article-id>
<article-id pub-id-type="pmc">4326891</article-id>
<article-id pub-id-type="doi">10.1111/acel.12186</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Original Articles</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Raule</surname>
<given-names>Nicola</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="author-notes" rid="fn1">*</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Sevini</surname>
<given-names>Federica</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="author-notes" rid="fn1">*</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Li</surname>
<given-names>Shengting</given-names>
</name>
<xref ref-type="aff" rid="au2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Barbieri</surname>
<given-names>Annalaura</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Tallaro</surname>
<given-names>Federica</given-names>
</name>
<xref ref-type="aff" rid="au3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lomartire</surname>
<given-names>Laura</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Vianello</surname>
<given-names>Dario</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Montesanto</surname>
<given-names>Alberto</given-names>
</name>
<xref ref-type="aff" rid="au3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Moilanen</surname>
<given-names>Jukka S</given-names>
</name>
<xref ref-type="aff" rid="au4">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bezrukov</surname>
<given-names>Vladyslav</given-names>
</name>
<xref ref-type="aff" rid="au5">5</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Blanché</surname>
<given-names>Hélène</given-names>
</name>
<xref ref-type="aff" rid="au6">6</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hervonen</surname>
<given-names>Antti</given-names>
</name>
<xref ref-type="aff" rid="au7">7</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Christensen</surname>
<given-names>Kaare</given-names>
</name>
<xref ref-type="aff" rid="au8">8</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Deiana</surname>
<given-names>Luca</given-names>
</name>
<xref ref-type="aff" rid="au9">9</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Gonos</surname>
<given-names>Efstathios S</given-names>
</name>
<xref ref-type="aff" rid="au10">10</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kirkwood</surname>
<given-names>Tom B L</given-names>
</name>
<xref ref-type="aff" rid="au11">11</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kristensen</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="au12">12</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Leon</surname>
<given-names>Alberta</given-names>
</name>
<xref ref-type="aff" rid="au13">13</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Pelicci</surname>
<given-names>Pier Giuseppe</given-names>
</name>
<xref ref-type="aff" rid="au14">14</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Poulain</surname>
<given-names>Michel</given-names>
</name>
<xref ref-type="aff" rid="au15">15</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rea</surname>
<given-names>Irene M</given-names>
</name>
<xref ref-type="aff" rid="au16">16</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Remacle</surname>
<given-names>Josè</given-names>
</name>
<xref ref-type="aff" rid="au17">17</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Robine</surname>
<given-names>Jean Marie</given-names>
</name>
<xref ref-type="aff" rid="au18">18</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Schreiber</surname>
<given-names>Stefan</given-names>
</name>
<xref ref-type="aff" rid="au19">19</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Sikora</surname>
<given-names>Ewa</given-names>
</name>
<xref ref-type="aff" rid="au20">20</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Eline Slagboom</surname>
<given-names>Peternella</given-names>
</name>
<xref ref-type="aff" rid="au21">21</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Spazzafumo</surname>
<given-names>Liana</given-names>
</name>
<xref ref-type="aff" rid="au22">22</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Antonietta Stazi</surname>
<given-names>Maria</given-names>
</name>
<xref ref-type="aff" rid="au23">23</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Toussaint</surname>
<given-names>Olivier</given-names>
</name>
<xref ref-type="aff" rid="au24">24</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Vaupel</surname>
<given-names>James W</given-names>
</name>
<xref ref-type="aff" rid="au25">25</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rose</surname>
<given-names>Giuseppina</given-names>
</name>
<xref ref-type="aff" rid="au3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Majamaa</surname>
<given-names>Kari</given-names>
</name>
<xref ref-type="aff" rid="au4">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Perola</surname>
<given-names>Markus</given-names>
</name>
<xref ref-type="aff" rid="au26">26</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Johnson</surname>
<given-names>Thomas E</given-names>
</name>
<xref ref-type="aff" rid="au27">27</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bolund</surname>
<given-names>Lars</given-names>
</name>
<xref ref-type="aff" rid="au2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Yang</surname>
<given-names>Huanming</given-names>
</name>
<xref ref-type="aff" rid="au2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Passarino</surname>
<given-names>Giuseppe</given-names>
</name>
<xref ref-type="aff" rid="au3">3</xref>
<xref ref-type="corresp" rid="cor1"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Franceschi</surname>
<given-names>Claudio</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="corresp" rid="cor2"></xref>
</contrib>
<aff id="au1">
<label>1</label>
<institution>BioPhysics and Biocomplexity and Department of Experimental Pathology, C.I. G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, University of Bologna</institution>
<addr-line>Bologna, 40126, Italy</addr-line>
</aff>
<aff id="au2">
<label>2</label>
<addr-line>BGI Shenzhen, Shenzhen, 518083, China</addr-line>
</aff>
<aff id="au3">
<label>3</label>
<institution>Department of Cell Biology, University of Calabria</institution>
<addr-line>Rende, 87036, Italy</addr-line>
</aff>
<aff id="au4">
<label>4</label>
<institution>Institute of Clinical Medicine, University of Oulu, Oulu University Hospital and MRC Oulu</institution>
<addr-line>Oulu, 90014, Finland</addr-line>
</aff>
<aff id="au5">
<label>5</label>
<institution>Institute of Gerontology</institution>
<addr-line>Kiev, 252114, Ukraine</addr-line>
</aff>
<aff id="au6">
<label>6</label>
<institution>Centre Polymorphisme Humaine, Fondation Jean Dausset</institution>
<addr-line>Paris, 75010, France</addr-line>
</aff>
<aff id="au7">
<label>7</label>
<institution>University of Tampere</institution>
<addr-line>Tampere, 33014, Finland</addr-line>
</aff>
<aff id="au8">
<label>8</label>
<institution>Institute of Public Health, University of Southern Denmark</institution>
<addr-line>Odense, 5230, Denmark</addr-line>
</aff>
<aff id="au9">
<label>9</label>
<institution>University of Sassari</institution>
<addr-line>Sassari, 07100, Italy</addr-line>
</aff>
<aff id="au10">
<label>10</label>
<institution>National Hellenic Research Foundation</institution>
<addr-line>Athens, 116 35, Greece</addr-line>
</aff>
<aff id="au11">
<label>11</label>
<institution>School of Clinical Medical Sciences, Gerontology “Henry Wellcome”, University of Newcastle upon Tyne</institution>
<addr-line>Newcastle upon Tyne, NE1 3BZ, UK</addr-line>
</aff>
<aff id="au12">
<label>12</label>
<institution>University of Aarhus</institution>
<addr-line>Aarhus, 8000, Denmark</addr-line>
</aff>
<aff id="au13">
<label>13</label>
<institution>Research & Innovation Soc.Coop. a r.l.</institution>
<addr-line>Padova, 35127, Italy</addr-line>
</aff>
<aff id="au14">
<label>14</label>
<institution>IFOM—Fondazione Istituto FIRC di Oncologia Molecolare</institution>
<addr-line>Milano, 20139, Italy</addr-line>
</aff>
<aff id="au15">
<label>15</label>
<institution>Research Centre of Demographic Management for Public Administrations, UCL—GéDAP</institution>
<addr-line>Louvain-la-Neuve, 1348, Belgium</addr-line>
</aff>
<aff id="au16">
<label>16</label>
<institution>The Queen’s University Belfast</institution>
<addr-line>Belfast, BT7 1NN, UK</addr-line>
</aff>
<aff id="au17">
<label>17</label>
<institution>Eppendorf Array Technologies, SA—EAT Research and Development</institution>
<addr-line>Namur, 5000, Belgium</addr-line>
</aff>
<aff id="au18">
<label>18</label>
<institution>University of Montpellier, Val d’Aurelle Cancer Research Center</institution>
<addr-line>Montpellier, 34090, France</addr-line>
</aff>
<aff id="au19">
<label>19</label>
<institution>Kiel Center for Functional Genomics, University Hospital Schleswig Holstein</institution>
<addr-line>Kiel, 24105, Germany</addr-line>
</aff>
<aff id="au20">
<label>20</label>
<institution>Nencki Institute of Experimental Biology, Polish Academy of Sciences</institution>
<addr-line>Warsaw, 00-679, Poland</addr-line>
</aff>
<aff id="au21">
<label>21</label>
<institution>Leiden University Medical Centre</institution>
<addr-line>Leiden, 2333 ZA, the Netherlands</addr-line>
</aff>
<aff id="au22">
<label>22</label>
<institution>INRCA—Italian National Research Centre on Aging</institution>
<addr-line>Ancona, 60127, Italy</addr-line>
</aff>
<aff id="au23">
<label>23</label>
<institution>Istituto Superiore di Sanità</institution>
<addr-line>Rome, 00161, Italy</addr-line>
</aff>
<aff id="au24">
<label>24</label>
<institution>Facultés Universitaire Notre Dame de la Paix</institution>
<addr-line>Namur, 5000, Belgium</addr-line>
</aff>
<aff id="au25">
<label>25</label>
<institution>Max Planck Institute for Demographic Research</institution>
<addr-line>Rostock, 18057, Germany</addr-line>
</aff>
<aff id="au26">
<label>26</label>
<institution>National Public Health Institute</institution>
<addr-line>Helsinki, 00260, Finland</addr-line>
</aff>
<aff id="au27">
<label>27</label>
<institution>Institute for Behavioral Genetics, University of Colorado Boulder</institution>
<addr-line>Boulder, CO, 80309, USA</addr-line>
</aff>
</contrib-group>
<author-notes>
<corresp id="cor1">Giuseppe Passarino, Department of Cell Biology, University of Calabria, 87036, Rende, Italy. Tel.: +39 0984 492932; fax: +39 0984 492933; e-mail:
<email>g.passarino@unical.it</email>
</corresp>
<corresp id="cor2">Claudio Franceschi, C.I.G. Interdepartmental Centre L.Galvani for Integrated Studies on Bioinformatics, BioPhysics and Biocomplexity and Department of Experimental Pathology, University of Bologna, 40126, Bologna, Italy. Tel.: +39 051 2094743; fax: +39 051 2094747; e-mail:
<email>claudio.franceschi@unibo.it</email>
</corresp>
<fn id="fn1">
<label>*</label>
<p>F. Sevini and N. Raule equally contributed to the study.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub">
<month>6</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub">
<day>17</day>
<month>12</month>
<year>2013</year>
</pub-date>
<volume>13</volume>
<issue>3</issue>
<fpage>401</fpage>
<lpage>407</lpage>
<history>
<date date-type="accepted">
<day>14</day>
<month>11</month>
<year>2013</year>
</date>
</history>
<permissions>
<copyright-statement>© 2013 The Authors.
<italic>Aging Cell</italic>
published by the Anatomical Society and John Wiley & Sons Ltd.</copyright-statement>
<copyright-year>2013</copyright-year>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/3.0/">
<license-p>This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<abstract>
<p>To re-examine the correlation between mtDNA variability and longevity, we examined mtDNAs from samples obtained from over 2200 ultranonagenarians (and an equal number of controls) collected within the framework of the GEHA EU project. The samples were categorized by high-resolution classification, while about 1300 mtDNA molecules (650 ultranonagenarians and an equal number of controls) were completely sequenced. Sequences, unlike standard haplogroup analysis, made possible to evaluate for the first time the cumulative effects of specific, concomitant mtDNA mutations, including those that
<italic>per se</italic>
have a low, or very low, impact. In particular, the analysis of the mutations occurring in different OXPHOS complex showed a complex scenario with a different mutation burden in 90+ subjects with respect to controls. These findings suggested that mutations in subunits of the OXPHOS complex I had a beneficial effect on longevity, while the simultaneous presence of mutations in complex I and III (which also occurs in J subhaplogroups involved in LHON) and in complex I and V seemed to be detrimental, likely explaining previous contradictory results. On the whole, our study, which goes beyond haplogroup analysis, suggests that mitochondrial DNA variation does affect human longevity, but its effect is heavily influenced by the interaction between mutations concomitantly occurring on different mtDNA genes.</p>
</abstract>
<kwd-group>
<kwd>genetics of longevity</kwd>
<kwd>longevity</kwd>
<kwd>mitochondrial DNA</kwd>
<kwd>mtDNA sequencing</kwd>
<kwd>oxidative phosphorylation</kwd>
</kwd-group>
</article-meta>
</front>
<body>
<sec>
<title>Introduction</title>
<p>Research on mitochondrial biology has underlined the central role played by the mitochondrion in a number of complex traits, including aging and metabolic and degenerative diseases. Mitochondria, due to their central position between energy uptake and energy production, are involved in a number of cellular processes such as heat production, apoptosis regulation, and cellular differentiation. In addition, mitochondria are responsible for the production and the regulation of the most important by-product of the cellular metabolism, reactive oxygen species (ROS), which are widely considered to be one of the main causes of aging (for a review see Passarino
<italic>et al</italic>
.,
<xref rid="b23" ref-type="bibr">2010</xref>
; Wallace,
<xref rid="b44" ref-type="bibr">2010</xref>
). Most of the proteins determining the biology of mitochondria are encoded by the nuclear genome, but some important subunits of the oxidative phosphorilation (OXPHOS) are encoded by the mitochondrial DNA (mtDNA). Thus, many studies have addressed the effects of nuclear and mitochondrial DNA mutations (and of the interaction between the two genomes) on mitochondrial functioning and its effect on aging in model organisms and in humans (for a review, see Lagouge & Larsson,
<xref rid="b17" ref-type="bibr">2013</xref>
; Bratic & Larsson,
<xref rid="b6" ref-type="bibr">2013</xref>
; Greaves & Turnbull,
<xref rid="b14" ref-type="bibr">2009</xref>
). In particular, many studies on humans have addressed the role played by the common variability of mitochondrial DNA in modulating the processes influenced by mitochondrial activity, and their effects on degenerative diseases and aging (Brown
<italic>et al</italic>
.,
<xref rid="b8" ref-type="bibr">1997</xref>
; Ivanova & Lepage,
<xref rid="b16" ref-type="bibr">1998</xref>
; De Benedictis
<italic>et al</italic>
.,
<xref rid="b12" ref-type="bibr">1999</xref>
; Ruiz-Pesini
<italic>et al</italic>
.,
<xref rid="b30" ref-type="bibr">2000</xref>
; Ross
<italic>et al</italic>
.,
<xref rid="b28" ref-type="bibr">2001</xref>
; Rose
<italic>et al</italic>
.,
<xref rid="b27" ref-type="bibr">2002</xref>
; Niemi
<italic>et al</italic>
.,
<xref rid="b21" ref-type="bibr">2003</xref>
; van der Walt
<italic>et al</italic>
.,
<xref rid="b45" ref-type="bibr">2003</xref>
; Wallace,
<xref rid="b43" ref-type="bibr">2005</xref>
; Montiel-Sosa
<italic>et al</italic>
.,
<xref rid="b20" ref-type="bibr">2006</xref>
; Santoro
<italic>et al</italic>
.,
<xref rid="b31" ref-type="bibr">2006</xref>
). These studies have been carried out mainly by taking advantage of the haplogroup classification of mtDNA molecules. Using this approach, we previously reported a beneficial effect of haplogroup J, present across Europe and the Near East, on longevity, being more frequent in centenarians than in ethnically matched younger controls in northern Italy (De Benedictis
<italic>et al</italic>
.,
<xref rid="b12" ref-type="bibr">1999</xref>
), Ireland (Ross
<italic>et al</italic>
.,
<xref rid="b28" ref-type="bibr">2001</xref>
), and Finland (Niemi
<italic>et al</italic>
.,
<xref rid="b21" ref-type="bibr">2003</xref>
). Intriguingly, haplogroup J was also reported to be strongly associated with LHON (Leber’s hereditary optic neuropathy), increasing the penetrance of specific mutations that are significantly less harmful when occurring in mtDNA molecules of different haplogroups (Brown
<italic>et al</italic>
.,
<xref rid="b8" ref-type="bibr">1997</xref>
; Torroni
<italic>et al</italic>
.,
<xref rid="b41" ref-type="bibr">1997</xref>
; Man
<italic>et al</italic>
.,
<xref rid="b18" ref-type="bibr">2004</xref>
). Similarly, the Asian haplogroup D (characterized by mutations affecting complex I, such as haplogroup J) has been found to be overrepresented in Japanese centenarians (Tanaka
<italic>et al</italic>
.,
<xref rid="b38" ref-type="bibr">1998</xref>
,
<xref rid="b39" ref-type="bibr">2000</xref>
). Accordingly, it was proposed that the mutations defining the J haplogroup (falling in the protein subunits of OXPHOS complex I) decrease OXPHOS activity, putting the cell in a vulnerable situation where a further mutation (such as in LHON) would be more likely to be harmful. However, if the nuclear response stimulated by higher ROS production is adequate, the low OXPHOS activity may become advantageous and lead to lower ROS levels, resulting in more healthy aging (Rose
<italic>et al</italic>
.,
<xref rid="b26" ref-type="bibr">2001</xref>
). Consistent with this hypothesis, cells with mtDNA molecules belonging to haplogroup J were recently found to produce less ATP and less ROS than cells with different mtDNA molecules (Bellizzi
<italic>et al</italic>
.,
<xref rid="b4" ref-type="bibr">2012</xref>
). However, some studies have failed to find any association between mtDNA and longevity (Dato
<italic>et al</italic>
.,
<xref rid="b11" ref-type="bibr">2004</xref>
; Pinós
<italic>et al</italic>
.,
<xref rid="b24" ref-type="bibr">2012</xref>
; Collerton
<italic>et al</italic>
.,
<xref rid="b10" ref-type="bibr">2013</xref>
), suggesting that the possible effect of mtDNA on longevity might be population specific, but also that such an effect might be minimal, and require a very large number of samples to reach statistical significance. In addition, it is possible that the analysis of mitochondrial DNA haplogroups may not be a suitable approach to uncover the effects of mtDNA given that different sporadic mutations suggested to be important for human longevity (see Beekman
<italic>et al</italic>
.,
<xref rid="b3" ref-type="bibr">2013</xref>
) fall along mtDNA molecules but are not associated with any of the haplogroups.</p>
<p>Here, we present the results of a very large study, where over 2200 subjects older than 90 years, recruited within the framework of the Genetics of Healthy Ageing (GEHA) EU project (Skytthe
<italic>et al</italic>
.,
<xref rid="b36" ref-type="bibr">2011</xref>
) and coming from most of the European populations, were compared with a similar number of younger controls matched for sex and geographical origins. In this study, we also availed of the complete sequencing of a subgroup of GEHA samples [650 ultra nonagenarians (90+) and a comparable number of controls, coming from Denmark, Finland, southern Italy and Greece], to determine whether recurrent or sporadic mutations accumulated in specific genes not detected by haplogroup analysis, may influence longevity.</p>
</sec>
<sec sec-type="results">
<title>Results</title>
<sec>
<title>Haplogroup analysis</title>
<p>The frequencies of mtDNA haplogroups in 90+ and controls are summarized in Table
<xref ref-type="table" rid="tbl1">1</xref>
and, separately for men and women, in Table
<xref ref-type="supplementary-material" rid="sd2">S1</xref>
. We observed that in females, the haplogroups H2 and T2 are more frequent in the 90+ group than in controls (
<italic>P</italic>
= 0.002 and 0.02, respectively). On the other hand, among male controls, the frequency of haplogroups H1 and J2 was higher than in the 90+ group (
<italic>P</italic>
= 0.023 and 0.004, respectively). No association was detectable when multiple test corrections were used.</p>
<table-wrap id="tbl1" position="float">
<label>Table 1</label>
<caption>
<p>Distribution of mtDNA haplogroups in the Genetics of Healthy Ageing (GEHA) samples</p>
</caption>
<table frame="hsides" rules="groups">
<thead>
<tr>
<th rowspan="1" colspan="1"></th>
<th align="left" colspan="2" rowspan="1">Controls (
<italic>n</italic>
= 2153)</th>
<th align="left" colspan="2" rowspan="1">90+ (
<italic>n</italic>
= 2086)</th>
<th rowspan="1" colspan="1"></th>
</tr>
<tr>
<th align="left" rowspan="1" colspan="1">Subhaplogroups</th>
<th align="left" rowspan="1" colspan="1">
<italic>N</italic>
</th>
<th align="left" rowspan="1" colspan="1">%</th>
<th align="left" rowspan="1" colspan="1">
<italic>N</italic>
</th>
<th align="left" rowspan="1" colspan="1">%</th>
<th align="left" rowspan="1" colspan="1">
<italic>P</italic>
-value</th>
</tr>
</thead>
<tbody>
<tr>
<td align="left" rowspan="1" colspan="1">HV
<xref ref-type="table-fn" rid="tf1-1">*</xref>
</td>
<td align="left" rowspan="1" colspan="1">1042</td>
<td align="left" rowspan="1" colspan="1">48.4</td>
<td align="left" rowspan="1" colspan="1">1052</td>
<td align="left" rowspan="1" colspan="1">50.43</td>
<td align="left" rowspan="1" colspan="1">0.187</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> HV0
<xref ref-type="table-fn" rid="tf1-1">*</xref>
</td>
<td align="left" rowspan="1" colspan="1">68</td>
<td align="left" rowspan="1" colspan="1">3.16</td>
<td align="left" rowspan="1" colspan="1">83</td>
<td align="left" rowspan="1" colspan="1">3.98</td>
<td align="left" rowspan="1" colspan="1">0.159</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">H
<xref ref-type="table-fn" rid="tf1-1">*</xref>
</td>
<td align="left" rowspan="1" colspan="1">924</td>
<td align="left" rowspan="1" colspan="1">42.92</td>
<td align="left" rowspan="1" colspan="1">927</td>
<td align="left" rowspan="1" colspan="1">44.44</td>
<td align="left" rowspan="1" colspan="1">0.322</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> H1</td>
<td align="left" rowspan="1" colspan="1">325</td>
<td align="left" rowspan="1" colspan="1">15.1</td>
<td align="left" rowspan="1" colspan="1">292</td>
<td align="left" rowspan="1" colspan="1">14</td>
<td align="left" rowspan="1" colspan="1">0.317</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> H2</td>
<td align="left" rowspan="1" colspan="1">23</td>
<td align="left" rowspan="1" colspan="1">1.07</td>
<td align="left" rowspan="1" colspan="1">42</td>
<td align="left" rowspan="1" colspan="1">2.01</td>
<td align="left" rowspan="1" colspan="1">0.013</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> H3</td>
<td align="left" rowspan="1" colspan="1">85</td>
<td align="left" rowspan="1" colspan="1">3.95</td>
<td align="left" rowspan="1" colspan="1">71</td>
<td align="left" rowspan="1" colspan="1">3.4</td>
<td align="left" rowspan="1" colspan="1">0.370</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> H5</td>
<td align="left" rowspan="1" colspan="1">63</td>
<td align="left" rowspan="1" colspan="1">2.93</td>
<td align="left" rowspan="1" colspan="1">68</td>
<td align="left" rowspan="1" colspan="1">3.26</td>
<td align="left" rowspan="1" colspan="1">0.536</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> H6</td>
<td align="left" rowspan="1" colspan="1">47</td>
<td align="left" rowspan="1" colspan="1">2.18</td>
<td align="left" rowspan="1" colspan="1">52</td>
<td align="left" rowspan="1" colspan="1">2.49</td>
<td align="left" rowspan="1" colspan="1">0.542</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">I</td>
<td align="left" rowspan="1" colspan="1">44</td>
<td align="left" rowspan="1" colspan="1">2.04</td>
<td align="left" rowspan="1" colspan="1">46</td>
<td align="left" rowspan="1" colspan="1">2.21</td>
<td align="left" rowspan="1" colspan="1">0.750</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">J</td>
<td align="left" rowspan="1" colspan="1">210</td>
<td align="left" rowspan="1" colspan="1">9.75</td>
<td align="left" rowspan="1" colspan="1">183</td>
<td align="left" rowspan="1" colspan="1">8.5</td>
<td align="left" rowspan="1" colspan="1">0.289</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> J1</td>
<td align="left" rowspan="1" colspan="1">153</td>
<td align="left" rowspan="1" colspan="1">7.11</td>
<td align="left" rowspan="1" colspan="1">144</td>
<td align="left" rowspan="1" colspan="1">6.9</td>
<td align="left" rowspan="1" colspan="1">0.810</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> J2</td>
<td align="left" rowspan="1" colspan="1">57</td>
<td align="left" rowspan="1" colspan="1">2.65</td>
<td align="left" rowspan="1" colspan="1">39</td>
<td align="left" rowspan="1" colspan="1">1.87</td>
<td align="left" rowspan="1" colspan="1">0.099</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">K</td>
<td align="left" rowspan="1" colspan="1">161</td>
<td align="left" rowspan="1" colspan="1">7.48</td>
<td align="left" rowspan="1" colspan="1">137</td>
<td align="left" rowspan="1" colspan="1">3.98</td>
<td align="left" rowspan="1" colspan="1">0.254</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> K1</td>
<td align="left" rowspan="1" colspan="1">140</td>
<td align="left" rowspan="1" colspan="1">6.5</td>
<td align="left" rowspan="1" colspan="1">117</td>
<td align="left" rowspan="1" colspan="1">5.61</td>
<td align="left" rowspan="1" colspan="1">0.247</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">T</td>
<td align="left" rowspan="1" colspan="1">211</td>
<td align="left" rowspan="1" colspan="1">9.8</td>
<td align="left" rowspan="1" colspan="1">223</td>
<td align="left" rowspan="1" colspan="1">10.69</td>
<td align="left" rowspan="1" colspan="1">0.362</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> T1</td>
<td align="left" rowspan="1" colspan="1">53</td>
<td align="left" rowspan="1" colspan="1">2.46</td>
<td align="left" rowspan="1" colspan="1">43</td>
<td align="left" rowspan="1" colspan="1">2.06</td>
<td align="left" rowspan="1" colspan="1">0.410</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> T2</td>
<td align="left" rowspan="1" colspan="1">152</td>
<td align="left" rowspan="1" colspan="1">7.06</td>
<td align="left" rowspan="1" colspan="1">174</td>
<td align="left" rowspan="1" colspan="1">8.34</td>
<td align="left" rowspan="1" colspan="1">0.120</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">U</td>
<td align="left" rowspan="1" colspan="1">313</td>
<td align="left" rowspan="1" colspan="1">14.54</td>
<td align="left" rowspan="1" colspan="1">272</td>
<td align="left" rowspan="1" colspan="1">13.04</td>
<td align="left" rowspan="1" colspan="1">0.167</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> U2</td>
<td align="left" rowspan="1" colspan="1">39</td>
<td align="left" rowspan="1" colspan="1">1.81</td>
<td align="left" rowspan="1" colspan="1">38</td>
<td align="left" rowspan="1" colspan="1">1.82</td>
<td align="left" rowspan="1" colspan="1">1.000</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> U4</td>
<td align="left" rowspan="1" colspan="1">48</td>
<td align="left" rowspan="1" colspan="1">2.23</td>
<td align="left" rowspan="1" colspan="1">34</td>
<td align="left" rowspan="1" colspan="1">1.63</td>
<td align="left" rowspan="1" colspan="1">0.181</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> U5a</td>
<td align="left" rowspan="1" colspan="1">109</td>
<td align="left" rowspan="1" colspan="1">5.06</td>
<td align="left" rowspan="1" colspan="1">90</td>
<td align="left" rowspan="1" colspan="1">4.31</td>
<td align="left" rowspan="1" colspan="1">0.276</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> U5b</td>
<td align="left" rowspan="1" colspan="1">56</td>
<td align="left" rowspan="1" colspan="1">2.6</td>
<td align="left" rowspan="1" colspan="1">51</td>
<td align="left" rowspan="1" colspan="1">2.44</td>
<td align="left" rowspan="1" colspan="1">0.770</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">W</td>
<td align="left" rowspan="1" colspan="1">39</td>
<td align="left" rowspan="1" colspan="1">1.81</td>
<td align="left" rowspan="1" colspan="1">51</td>
<td align="left" rowspan="1" colspan="1">2.44</td>
<td align="left" rowspan="1" colspan="1">0.166</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">X</td>
<td align="left" rowspan="1" colspan="1">41</td>
<td align="left" rowspan="1" colspan="1">1.9</td>
<td align="left" rowspan="1" colspan="1">42</td>
<td align="left" rowspan="1" colspan="1">2.01</td>
<td align="left" rowspan="1" colspan="1">0.825</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">OTHER</td>
<td align="left" rowspan="1" colspan="1">92</td>
<td align="left" rowspan="1" colspan="1">5.53</td>
<td align="left" rowspan="1" colspan="1">80</td>
<td align="left" rowspan="1" colspan="1">5.08</td>
<td align="left" rowspan="1" colspan="1">0.484</td>
</tr>
</tbody>
</table>
<table-wrap-foot>
<fn id="tf1-1">
<label>*</label>
<p>is part of the internationally used designation of these groups of haplotypes.</p>
</fn>
<fn>
<p>Haplogroups and subhaplogroups with frequencies higher than 1.5% are reported. OTHER includes N1a, N1b, N1c, N9a, A4, D5, C1d, M1, L1b1.</p>
</fn>
</table-wrap-foot>
</table-wrap>
</sec>
<sec>
<title>Sequence analysis</title>
<p>The mtDNA sequences have been deposited in GenBank, with accession numbers JX152783 – JX154074.</p>
<p>To analyze the mtDNA sequences, we first compared all complete sequences with the reference sequence (rCRS). A summary of all identified mutations is shown in Table
<xref ref-type="supplementary-material" rid="sd3">S2</xref>
. The analysis of single mutations did not highlight any specific mutation that could consistently account for an advantage in longevity.</p>
<p>Thus, we analyzed the possibility that nonsynonymous mutations may alter specific genes and affect the chances of attaining extreme longevity. We analyzed mtDNA sequences of ultranonagenarians and controls to find an aggregate mtDNA variation associated with longevity. To avoid false-positive results as much as possible, the analysis of mtDNA sequences was carried out using a gene-based kernel approach (Wu
<italic>et al</italic>
.,
<xref rid="b47" ref-type="bibr">2011</xref>
), adjusted for genetic ancestry by means of principal component analysis according to Biffi
<italic>et al</italic>
. (
<xref rid="b5" ref-type="bibr">2010</xref>
) and corrected for multiple testing (number of ‘genes’ analyzed). In our case, we considered a ‘gene’ as all the subunits encoded by mtDNA and belonging to a single complex of OXPHOS (ND 1-6 and ND4L are in complex I, Cyt b in complex III, COI-III in complex IV, ATPase 6 and 8 in complex V). Table
<xref ref-type="table" rid="tbl2">2</xref>
reports the results of the gene-based analysis, while Fig.
<xref ref-type="supplementary-material" rid="sd1">S1</xref>
shows the results of the underlying principal component analysis. Table
<xref ref-type="table" rid="tbl2">2</xref>
clearly shows that nonsynonymous mutations falling within Complex I, III and V are associated with longevity in our sample. By contrast, there was no correlation between synonymous mutations falling in different subunits of OXPHOS encoded by mitochondrial DNA. No significant correlation was observed for either rRNA genes or tRNA genes.</p>
<table-wrap id="tbl2" position="float">
<label>Table 2</label>
<caption>
<p>Results of sequence analysis according to sequence kernel association test (SKAT) to find aggregate gene-based associations for human longevity using the 1840 mtDNA SNPs</p>
</caption>
<table frame="hsides" rules="groups">
<thead>
<tr>
<th rowspan="1" colspan="1"></th>
<th rowspan="1" colspan="1"></th>
<th rowspan="1" colspan="1"></th>
<th align="left" colspan="2" rowspan="1">Nonsynonymous mutations</th>
<th align="left" colspan="2" rowspan="1">Synonymous mutations</th>
</tr>
<tr>
<th rowspan="1" colspan="1"></th>
<th align="left" rowspan="1" colspan="1">Number of SNPs</th>
<th align="left" rowspan="1" colspan="1">
<italic>P</italic>
-value</th>
<th align="left" rowspan="1" colspan="1">Number of SNPs</th>
<th align="left" rowspan="1" colspan="1">
<italic>P</italic>
-Value</th>
<th align="left" rowspan="1" colspan="1">Number of SNPs</th>
<th align="left" rowspan="1" colspan="1">
<italic>P</italic>
-value</th>
</tr>
</thead>
<tbody>
<tr>
<td align="left" rowspan="1" colspan="1">Complex I</td>
<td align="left" rowspan="1" colspan="1">712</td>
<td rowspan="1" colspan="1"></td>
<td align="left" rowspan="1" colspan="1">200</td>
<td align="left" rowspan="1" colspan="1">0.02648710</td>
<td align="left" rowspan="1" colspan="1">512</td>
<td align="left" rowspan="1" colspan="1">0.39526309</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Complex III</td>
<td align="left" rowspan="1" colspan="1">136</td>
<td rowspan="1" colspan="1"></td>
<td align="left" rowspan="1" colspan="1">54</td>
<td align="left" rowspan="1" colspan="1">0.03876515</td>
<td align="left" rowspan="1" colspan="1">82</td>
<td align="left" rowspan="1" colspan="1">0.17760404</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Complex IV</td>
<td align="left" rowspan="1" colspan="1">321
<xref ref-type="table-fn" rid="tf2-2">*</xref>
</td>
<td rowspan="1" colspan="1"></td>
<td align="left" rowspan="1" colspan="1">85</td>
<td align="left" rowspan="1" colspan="1">0.51612941</td>
<td align="left" rowspan="1" colspan="1">235</td>
<td align="left" rowspan="1" colspan="1">0.36290044</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Complex V</td>
<td align="left" rowspan="1" colspan="1">134</td>
<td rowspan="1" colspan="1"></td>
<td align="left" rowspan="1" colspan="1">74</td>
<td align="left" rowspan="1" colspan="1">0.00057112</td>
<td align="left" rowspan="1" colspan="1">60</td>
<td align="left" rowspan="1" colspan="1">0.14215469</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">rRNA</td>
<td align="left" rowspan="1" colspan="1">154</td>
<td align="left" rowspan="1" colspan="1">0.43332840</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">tRNA</td>
<td align="left" rowspan="1" colspan="1">100</td>
<td align="left" rowspan="1" colspan="1">0.26393589</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Control region</td>
<td align="left" rowspan="1" colspan="1">267</td>
<td align="left" rowspan="1" colspan="1">0.10580026</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1"></td>
</tr>
</tbody>
</table>
<table-wrap-foot>
<fn>
<p>
<italic>P</italic>
-values were obtained, by bootstrap analysis (10 000 bootstrap), using the SKAT algorithm after adjusting for the first four principal components.</p>
</fn>
<fn id="tf2-2">
<label>*</label>
<p>One position is noncoding (position 8269, in COII).</p>
</fn>
</table-wrap-foot>
</table-wrap>
<p>To better understand the results and, in particular, to determine whether mutations falling in different complexes have a positive or negative effect, we compared 90+ and controls in different populations for nonsynonymous mutations in genes belonging to the mitochondrial complex that was significantly associated with longevity upon the gene-based sequence analysis above (Fig.
<xref ref-type="fig" rid="fig01">1</xref>
). When we considered the subunits of complex I, all three populations showed a difference between 90+ and controls. However, the frequency of nonsynonymous mutations was higher in controls than in the 90+ belonging to Danish and southern European populations (respectively,
<italic>P</italic>
= 0.03 in Denmark and
<italic>P</italic>
<< 0.001 in South Europe), while in the Finnish population, we observed the opposite trend (
<italic>P</italic>
= 0.02).</p>
<fig id="fig01" position="float">
<label>Figure 1</label>
<caption>
<p>Nonsynonymous mutation frequencies in 90+ and controls in mtDNA genes of OXPHOS complexes I, III and V, which showed a significant association with longevity after sequence analysis for pooled associations (Table
<xref ref-type="table" rid="tbl2">2</xref>
). * indicates statistical significant differences between 90+ and controls. Frequency (y-axis) indicates the average number of mutation per subject every 100 bp of the relevant mtDNA region. DK, FI, and SE stand for Denmark, Finland, and South Europe populations, respectively.</p>
</caption>
<graphic xlink:href="acel0013-0401-f1"></graphic>
</fig>
<p>For complex III and V, Danish and southern European populations showed a higher frequency of mutations in controls than in the 90+ group (
<italic>P</italic>
= 0.005 in Denmark and
<italic>P</italic>
= 0.048 in South Europe) (
<italic>P</italic>
= 0.0011 and
<italic>P</italic>
= 0.0023, respectively), while in the Finnish population, the mutation frequency did not differ between the 90+ and controls for both complexes.</p>
<p>Given the absolute linkage among mtDNA mutations, we investigated whether the different results obtained in our samples (with Finns showing a different trend with respect to other samples) could be due to a different distribution of the simultaneous mutations in subunits of different complexes. As most of the samples showed at least one mutation in both complexes I and III, for each sample, we counted the subjects where we observed two or more mutations in the subunits of both complex I and complex III (Table
<xref ref-type="table" rid="tbl3">3a</xref>
). Indeed, we observed that, when controls are considered, both Danes and southern Europeans show a higher frequency of the simultaneous presence of two mutations in complex I and III than Finns (
<italic>P</italic>
= 0.04 and
<italic>P</italic>
= 0.006, respectively). The same result was obtained when complex I and V were considered (Table
<xref ref-type="table" rid="tbl3">3b</xref>
). In both cases, the number of subjects with two or more mutations in complex I and III or in complex I and V was higher in controls than in ultranonagenarians (
<italic>P</italic>
= 0.03 and
<italic>P</italic>
= 0.02, respectively).</p>
<table-wrap id="tbl3" position="float">
<label>Table 3</label>
<caption>
<p>(a) Samples with 2 or more mutations in both complex I and III; (b) samples with 2 or more mutations in both complex I and V</p>
</caption>
<table frame="hsides" rules="groups">
<thead>
<tr>
<th align="left" rowspan="1" colspan="1">Population (n. total sample)</th>
<th align="left" rowspan="1" colspan="1">n. sample</th>
<th align="left" rowspan="1" colspan="1">%</th>
</tr>
</thead>
<tbody>
<tr>
<td align="left" colspan="3" rowspan="1">(a)</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Denmark controls (429)</td>
<td align="left" rowspan="1" colspan="1">131</td>
<td align="left" rowspan="1" colspan="1">30.53</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> inland controls (166)</td>
<td align="left" rowspan="1" colspan="1">32</td>
<td align="left" rowspan="1" colspan="1">21.91</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> South Europe controls (71)</td>
<td align="left" rowspan="1" colspan="1">28</td>
<td align="left" rowspan="1" colspan="1">39.43</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Total controls (666)</td>
<td align="left" rowspan="1" colspan="1">191</td>
<td align="left" rowspan="1" colspan="1">28.67
<xref ref-type="table-fn" rid="tf3-1">*</xref>
</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Denmark 90+ (423)</td>
<td align="left" rowspan="1" colspan="1">117</td>
<td align="left" rowspan="1" colspan="1">27.66</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Finland 90+ (148)</td>
<td align="left" rowspan="1" colspan="1">23</td>
<td align="left" rowspan="1" colspan="1">15.54</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> South Europe 90+ (75)</td>
<td align="left" rowspan="1" colspan="1">22</td>
<td align="left" rowspan="1" colspan="1">18.66</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Total 90+(646)</td>
<td align="left" rowspan="1" colspan="1">162</td>
<td align="left" rowspan="1" colspan="1">25.07
<xref ref-type="table-fn" rid="tf3-1">*</xref>
</td>
</tr>
<tr>
<td align="left" colspan="3" rowspan="1">(b)</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Denmark controls (429)</td>
<td align="left" rowspan="1" colspan="1">55</td>
<td align="left" rowspan="1" colspan="1">12.82</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Finland controls (166)</td>
<td align="left" rowspan="1" colspan="1">17</td>
<td align="left" rowspan="1" colspan="1">10.24</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> South Europe controls (71)</td>
<td align="left" rowspan="1" colspan="1">13</td>
<td align="left" rowspan="1" colspan="1">18.31</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Total Controls (666)</td>
<td align="left" rowspan="1" colspan="1">85</td>
<td align="left" rowspan="1" colspan="1">12.76
<xref ref-type="table-fn" rid="tf3-2"></xref>
</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Denmark 90+ (423)</td>
<td align="left" rowspan="1" colspan="1">39</td>
<td align="left" rowspan="1" colspan="1">9.22</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Finland 90+ (148)</td>
<td align="left" rowspan="1" colspan="1">11</td>
<td align="left" rowspan="1" colspan="1">7.43</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> South Europe 90+ (75)</td>
<td align="left" rowspan="1" colspan="1">7</td>
<td align="left" rowspan="1" colspan="1">9.33</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1"> Total 90+(646)</td>
<td align="left" rowspan="1" colspan="1">57</td>
<td align="left" rowspan="1" colspan="1">8.82
<xref ref-type="table-fn" rid="tf3-2"></xref>
</td>
</tr>
</tbody>
</table>
<table-wrap-foot>
<fn id="tf3-1">
<label>*</label>
<p>The co-occurrence of two or more mutations in complex I and III is more frequent in controls than in 90+ (
<italic>P</italic>
= 0.03).</p>
</fn>
<fn id="tf3-2">
<label></label>
<p>The co-occurrence of two or more mutations in complex I and V is more frequent in controls than in 90+ (
<italic>P</italic>
= 0.02).</p>
</fn>
</table-wrap-foot>
</table-wrap>
</sec>
</sec>
<sec sec-type="discussion">
<title>Discussion</title>
<p>Previous analyses on the correlation between mitochondrial DNA variability and longevity in humans have produced interesting but contradictory results (Passarino
<italic>et al</italic>
.,
<xref rid="b23" ref-type="bibr">2010</xref>
and references therein). The large GEHA sampling of European ultranonagenarians with sex- and geographically matched controls, and the complete sequencing of a great number of mtDNA molecules allowed us to shed light on this contradictory scenario. The unprecedented number of samples collected and analyzed makes these results very relevant in the longevity and mtDNA fields. The results are reinforced by the specific attention to the recruitment procedure aimed at minimizing population sampling bias stipulated by the GEHA project (see Experimental procedures).On the other hand, it must be acknowledged that cases and controls come from different birth cohorts, as it happens for studies on longevity, and this may represent a limitation.</p>
<p>The analysis of haplogroups showed that haplogroups H2 and T2 are associated with longevity in females. Haplogroup J2 was also associated with longevity in males, showing an opposite trend with respect to previous studies (Niemi
<italic>et al</italic>
.,
<xref rid="b21" ref-type="bibr">2003</xref>
; Domínguez-Garrido
<italic>et al</italic>
.,
<xref rid="b13" ref-type="bibr">2009</xref>
). In fact, J2 turned out to be less frequent in 90+ than in controls. Although none of these associations held after multiple tests adjustment, it is interesting to note that the haplogroups H2, T (including T2) and J (including J2) are characterized by nonsynonymous mutations in subunits of OXPHOS complex I, which, as mentioned above, has previously, although not consistently, been suggested to be associated with longevity.</p>
<p>Although the analysis of mtDNA haplogroups provided some interesting data, it proved once again to be unable to fully shed light on the correlation between mtDNA variability and longevity. The analysis of sequencing data showed that the pooled nonsynonymous variability of each of OXPHOS complexes I, III and V is associated with longevity. However, complex I exhibited higher mutation frequency in the 90+ group than in controls in Finns (suggesting that mutations in these subunits may be beneficial), but it showed more mutations in controls than in 90+ in Danish and in southern Europeans (suggesting that mutations in the subunits of complex I may be detrimental). On the other hand, also for complexes III and V, Danes and southern Europeans had a similar trend with more nonsynonymous mutations in controls than in ultranonagenarians, while Finns showed no differences between ultranonagenarians and controls for both complexes. The analysis of the simultaneous presence of mutations on both complexes I and III and in both complexes I and V suggests that the presence of mutation on complex I may be beneficial for longevity, while the co-occurrence of mutations on both complexes I and III or on both I and V might lower the individual’s chances for longevity. It might be worth mentioning in this context that studies on the molecular basis of LHON showed that the penetrance of LHON mutations is greatly increased by the concomitant occurrence of mutations on complexes I and III defining specific J subhaplogroups, such as J1c and J2b (Carelli
<italic>et al</italic>
.,
<xref rid="b9" ref-type="bibr">2006</xref>
; Achilli
<italic>et al</italic>
.,
<xref rid="b1" ref-type="bibr">2012</xref>
). Accordingly, this result might explain why the J haplogroup is associated with longevity in some populations but not in others. In populations where J subhaplogroups with additional mutations in complex III (or complex V) are more frequent, we may expect to find no association between J and longevity, similarly to what has been reported regarding the absence of correlation between haplogroup J and LHON in populations where these subhaplogroups are not present (Carelli
<italic>et al</italic>
.,
<xref rid="b9" ref-type="bibr">2006</xref>
). Indeed previous analyses had shown that haplogroup J is associated with longevity in Finns but not in southern Italians (De Benedictis
<italic>et al</italic>
.,
<xref rid="b12" ref-type="bibr">1999</xref>
; Niemi
<italic>et al</italic>
.,
<xref rid="b21" ref-type="bibr">2003</xref>
; Dato
<italic>et al</italic>
.,
<xref rid="b11" ref-type="bibr">2004</xref>
). On the basis of our results, we can hypothesize that mutations in complex I may decrease the rate of OXPHOS, possibly by slowing the initiation rate of the electron transport chain, thus leading to a lower production of both ATP and ROS, as suggested in an
<italic>in vitro</italic>
study by Bellizzi
<italic>et al</italic>
. (
<xref rid="b4" ref-type="bibr">2012</xref>
). In contrast, the impairment of supercomplex I–III (or of complexes I and V) can affect the activity of OXPHOS by decreasing (or, at worse, blocking) the initiated electron transport chain, leading to higher ROS production and/or hyperpolarization of the mitochondrial membrane (Wallace,
<xref rid="b43" ref-type="bibr">2005</xref>
). This hypothesis takes into account available data but will certainly need to be studied
<italic>in vivo</italic>
using appropriate models with specific mutations. In fact, our results are based on the different genetic burden of NS mutations in 90+ participants when compared with controls, but they are limited to explain epistatic interactions and the real effect of the mutations. Future work will need to better characterize the molecular effects of single mutations. Moreover, it will be important also to better analyze the interaction between these mutations and mutations in the regulatory region affecting mtDNA expression, as the 295C/T transition which was showed to affect mitochondrial transcription and copy number in cybrid models and is typical of haplogroup J (Suissa
<italic>et al</italic>
.,
<xref rid="b37" ref-type="bibr">2009</xref>
).</p>
<p>It is also worth mentioning that the availability of complete sequences allowed us to evaluate the frequency of mutations previously reported to be associated with degenerative diseases in 90+ and controls (Table
<xref ref-type="supplementary-material" rid="sd4">S3</xref>
). Unexpectedly, such mutations are present in the 90+ group sometimes at higher frequencies than in controls. For instance, the 4336T>C mutation in the tRNA
<sup>gln</sup>
has been found to be more frequent in patients with AD than in controls by a number of studies between 1993 and 2010 (Shoffner
<italic>et al</italic>
.,
<xref rid="b35" ref-type="bibr">1993</xref>
; Hutchin & Cortopassi,
<xref rid="b15" ref-type="bibr">1995</xref>
; Brown
<italic>et al</italic>
.,
<xref rid="b7" ref-type="bibr">1996</xref>
; Santoro
<italic>et al</italic>
.,
<xref rid="b32" ref-type="bibr">2010</xref>
). We found this mutation to be twice as frequent in 90+ than in controls. Similarly, many other supposed deleterious mutations have been found to be quite frequent in 90+. These results support the idea that certain mtDNA-inherited mutations could contribute to longevity or disease according to population- and individual-specific genetic backgrounds (nuclear genome and combination of mtDNA mutations), as well as stochastic events (Rose
<italic>et al</italic>
.,
<xref rid="b26" ref-type="bibr">2001</xref>
; Moilanen
<italic>et al</italic>
.,
<xref rid="b19" ref-type="bibr">2003</xref>
; Wallace,
<xref rid="b44" ref-type="bibr">2010</xref>
).</p>
<p>In conclusion, we postulate that particular rare mtDNA mutations, present only in specific populations, might be beneficial (or detrimental) for longevity and may explain part of the genetic component of longevity in that population, similarly to what has been suggested for private nuclear DNA polymorphisms (Beekman
<italic>et al</italic>
.,
<xref rid="b3" ref-type="bibr">2013</xref>
). On the whole, our study has allowed the reappraisal of the correlation between mtDNA variability and longevity. We show that complete mtDNA sequencing and analysis of its whole variability can highlight correlations between mtDNA variability and a specific phenotype, such as longevity which escapes standard haplogroup analysis. In fact, complete sequence analysis allows the appreciation of the effects of rare or repeated mutations unaccounted for in haplogroup analysis (Rollins
<italic>et al</italic>
.,
<xref rid="b25" ref-type="bibr">2009</xref>
). In addition, we have better highlighted the beneficial effects on longevity of mutations in the subunits of OXPHOS complex I and the detrimental effects of mutations in subunits of complex III or V (also in presence of mutations in complex I). It is important to underline that the very small effect of these mutations on longevity requires a very large sample size to be significantly highlighted.</p>
<p>Finally, we have also shown that mtDNA mutations, previously found to be associated with a number of degenerative disorders, are present in ultranonagenarians and in some cases even at higher frequencies than in controls. Again, this suggests that mtDNA mutations can be either positive or negative according to other factors, most likely including environmental factors as well as other mitochondrial and nuclear genomic background.</p>
</sec>
<sec sec-type="methods">
<title>Experimental procedures</title>
<sec>
<title>Sampling</title>
<p>Samples were collected within the framework of the GEHA research project (2004–2010) in 11 European Countries. Each institution providing blood samples received the approval from its own ethical committee, and all the recruited subjects provided written informed consent for the use of their phenotypic and genetic data in studies on human aging (Skytthe
<italic>et al</italic>
.,
<xref rid="b36" ref-type="bibr">2011</xref>
).</p>
<p>Within GEHA, families with two or more siblings 90 years old or older were identified with different strategies depending on the available information on the population. Once identified, individuals were contacted and an appointment was made to visit the individual in his or her usual place of residence. During the visit, a structured interview was conducted based on a standardized questionnaire, and blood samples consisting of three 7.5 mL EDTA tubes of blood were collected from each participant. For this study, we used only the older brother of each sibship.</p>
<p>The following inclusion criteria were applied to the recruitment of younger controls: (i) the participant should be between 50 and 75 years of age; (ii) he or she should be genetically unrelated to the old siblings to whom he/she was assigned as control; (iii) he or she should be of the same ethnicity and geographical background as the old siblings; (iv) whenever possible, he or she should be of the same gender as the oldest sibling in the sib pair or group. In cases where it was possible to contact the spouse of a child of an old sibling, he/she was asked to participate. Alternatively, control volunteers were recruited from the same geographical area as the ultranonagenarians (further details on the sampling can be found on Skytthe
<italic>et al</italic>
.,
<xref rid="b36" ref-type="bibr">2011</xref>
).</p>
<p>DNA was recovered from fresh blood by automated and standardized protocol to guarantee quality and concentration uniformity among samples. The GEHA Partner in charge of the DNA extraction (KTL – Helsinki, Finland) provided 4 μg of genomic DNA for mtDNA variability analysis.</p>
<p>A total of 4239 samples were available for mitochondrial haplogroup classification and for exploring the possible association between mtDNA-inherited sequence variation and longevity. Samples were distributed among ultranonagenarians (90+) and younger controls as reported in Table
<xref ref-type="supplementary-material" rid="sd4">S4</xref>
and had the features reported in Table
<xref ref-type="supplementary-material" rid="sd4">S5</xref>
(Supporting Information).</p>
</sec>
<sec>
<title>mtDNA Sequence Variation Screening</title>
<p>From the 4239 samples available, 1292 (646 ultranonagenarians and 646 controls) were selected for complete sequencing to analyze the differences between northern and southern European populations in the whole DNA molecule. For the remaining 2947 samples (1449 ultranonagenarians and 1498 controls), the mtDNA subhaplogroup was determined to verify possible haplogroup association with longevity and to compare haplogroup distribution among different European countries.</p>
<p>Complete sequencing was performed using two different protocols previously compared for the reliability of results by parallel testing of samples. A total of 125 sequences (109 Calabrians and 16 Greeks) were obtained using the MitoALL Resequencing kit (Applera, Foster City, CA, USA) introducing four alternative primer pairs to improve the amplification rate (Table
<xref ref-type="supplementary-material" rid="sd4">S6</xref>
). Each amplification step was followed by purification with EXOSAPit (U.S. Biochemical, Cleveland, Ohio). The sequencing reaction was conducted using the BigDye Kit, version 3.1 (Applera), and M13 universal primers (forward and reverse), followed by purification of the sequences by ethanol precipitation. Electropherograms were analyzed with S
<sc>eqscape</sc>
, version 2.5 software (Applera), that allows the assembly of all 46 fragments belonging to the sample and to align and compare the obtained consensus sequence with the revised Cambridge Reference Sequence (rCRS, NCBI: NC_012920.1 gi:251831 106) (Andrews
<italic>et al</italic>
.,
<xref rid="b2" ref-type="bibr">1999</xref>
). Two independent operators manually verified sequences for phantom mutations by reads of both strands. The remaining samples were sequenced in Beijing Genomics Institute (BGI) as previously described (Wang
<italic>et al</italic>
.,
<xref rid="b46" ref-type="bibr">2008</xref>
).</p>
<p>The definition of the mtDNA subhaplogroups in the remaining 2947 samples was conducted by resequencing the D-loop region from nucleotide position (np) 16024 to np 576 followed by RFLP analysis in specific coding region traits as previously described (Torroni
<italic>et al</italic>
.,
<xref rid="b40" ref-type="bibr">1996</xref>
).</p>
<p>For the haplogroup and subhaplogroup assignment, we followed the Phylotree nomenclature (
<ext-link ext-link-type="uri" xlink:href="http://www.phylotree.org">www.phylotree.org</ext-link>
) (van Oven & Kayser,
<xref rid="b22" ref-type="bibr">2009</xref>
). Considering the number of samples to classify, we developed a custom tree search algorithm that, coupled with a highly-efficient SNP discovery pipeline, is able to define the haplogroup that better matches the sample mutational motifs, starting from the raw sequence in FastA format (Vianello
<italic>et al</italic>
.,
<xref rid="b42" ref-type="bibr">2013</xref>
).</p>
</sec>
<sec>
<title>Statistical analysis</title>
<p>
<sc>r</sc>
statistical software was used for all statistical analyses. mtDNA subhaplogroups and relevant frequencies were stratified by gender and were compared between 90+ subjects and their ethnically matched controls using the chi-squared test with Pearson correction or Fisher’s exact test. The comparison of frequencies in 90+ and younger controls of each mtDNA subhaplogroup was computed by applying Pearson’s chi-squared test with Yates’ continuity correction. Tests for statistical significance were two-sided with α = 0.05.</p>
<p>Principal component analysis with mitochondrial SNPs passing quality control (MAF > 0.01), was used to control for hidden population substructure in the following association analyses (Biffi
<italic>et al</italic>
.,
<xref rid="b5" ref-type="bibr">2010</xref>
). This method has been shown to outperform haplogroup-stratified or haplogroup-adjusted association analyses with no loss in power for the detection of true associations. Principal component analysis was performed using the SNPRelate R package (Zheng
<italic>et al</italic>
.,
<xref rid="b48" ref-type="bibr">2012</xref>
) using only individuals of European ancestry.</p>
<p>Rare-Variant association testing for sequencing data was carried out to detect rare mtDNA variants involved in human longevity. For this purpose, the SKAT algorithm was used: a supervised and flexible regression method to test for association between rare variants in a gene or genetic region with a continuous/dichotomous trait. This algorithm was implemented in the SKAT package of R. Compared with other gene-based approach, SKAT is able to deal with variants that have different direction and magnitude of effects, allows for covariate adjustment, and also avoids arbitrary selection of threshold in burden test (Wu
<italic>et al</italic>
.,
<xref rid="b47" ref-type="bibr">2011</xref>
). Gene-based analysis was adjusted for the first four PCs derived from the principal component analysis previously described. To compute the SKAT
<italic>P</italic>
-values, we used a resampling procedure based on 10 000 bootstraps. The function used to measures the genetic similarity between two random subjects i and i’ in the analyzed region via the
<italic>P</italic>
selected markers was the weighted linear kernel function. As suggested by Wu
<italic>et al</italic>
. (
<xref rid="b47" ref-type="bibr">2011</xref>
), the diagonal weight matrix was chosen using the beta distribution density function with parameters a1 = 1 and a2 = 25 evaluated at the sample minor-allele frequency or MAF (default option of SKAT package of R).</p>
</sec>
</sec>
</body>
<back>
<ack>
<p>The study was supported by the GEHA Project.</p>
</ack>
<sec>
<title>Funding</title>
<p>This project was funded through Priority 1 (Life Sciences, Genomics and Biotechnology for Health) of European Union’s FP6, Project Number LSHM-CT-2004-503270. The research also received funding from the European Union’s Seventh Framework Programme (FP7/2007-2011) under Grant Agreement No 259679.</p>
</sec>
<sec>
<title>Author contribution</title>
<p>N. Raule, F. Sevini, S. Lin, K. Majamaa, M. Perola, L. Bolund, H. Yang, G. Passarino and C. Franceschi designed and coordinated the study. T. E. Johnson collaborated in defining the design and assisted in the coordination of the study. N. Raule, F. Sevini, S. Li, A. Barbieri, L. Lomartire, carried out laboratory analyses. F. Tallaro, D. Vianello, G. Rose, A. Montesanto, J. Moilanen carried out bioinformatic and statistic analyses. V. Bezrukov, H. Blanché, A. Hervonen, K. Christensen, L. Deiana, E. Gonos, T.B.L. Kirkwood, P. Kristensen, A. Leon, P.G. Pelicci, M. Poulain, I. M. Rea, J. Remacle, J.M. Robine, S. Schreiber, E. Sikora, P.E. Slagboom, L. Spazzafumo, M.A. Stazi, O. Toussaint, J.W. Vaupel, M. Perola, G. Passarino, C. Franceschi provided samples and opportunity to carry out the analysis. N. Raule, F. Sevini, G. Passarino and C. Franceschi wrote the Manuscript.</p>
</sec>
<sec>
<title>Conflict of interest</title>
<p>The authors declare no conflict of interest.</p>
</sec>
<ref-list>
<title>References</title>
<ref id="b1">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Achilli</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Iommarini</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Olivieri</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Pala</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Hooshiar Kashani</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Reynier</surname>
<given-names>P</given-names>
</name>
<name>
<surname>La Morgia</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Valentino</surname>
<given-names>ML</given-names>
</name>
<name>
<surname>Liguori</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Pizza</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Barboni</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Sadun</surname>
<given-names>F</given-names>
</name>
<name>
<surname>De Negri</surname>
<given-names>AM</given-names>
</name>
<name>
<surname>Zeviani</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Dollfus</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Moulignier</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Ducos</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Orssaud</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Bonneau</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Procaccio</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Leo-Kottler</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Fauser</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Wissinger</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Amati-Bonneau</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Torroni</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Carelli</surname>
<given-names>V</given-names>
</name>
</person-group>
<article-title>Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber’s hereditary optic neuropathy</article-title>
<source>PLoS ONE</source>
<year>2012</year>
<volume>7</volume>
<fpage>e42242</fpage>
<pub-id pub-id-type="pmid">22879922</pub-id>
</element-citation>
</ref>
<ref id="b2">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Andrews</surname>
<given-names>RM</given-names>
</name>
<name>
<surname>Kubacka</surname>
<given-names>I</given-names>
</name>
<name>
<surname>Chinnery</surname>
<given-names>PF</given-names>
</name>
<name>
<surname>Lightowlers</surname>
<given-names>RN</given-names>
</name>
<name>
<surname>Turnbull</surname>
<given-names>DM</given-names>
</name>
<name>
<surname>Howell</surname>
<given-names>N</given-names>
</name>
</person-group>
<article-title>Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA</article-title>
<source>Nat. Genet</source>
<year>1999</year>
<volume>23</volume>
<fpage>147</fpage>
<pub-id pub-id-type="pmid">10508508</pub-id>
</element-citation>
</ref>
<ref id="b3">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Beekman</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Blanché</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Perola</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Hervonen</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Bezrukov</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Sikora</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Flachsbart</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Christiansen</surname>
<given-names>L</given-names>
</name>
<name>
<surname>De Craen</surname>
<given-names>AJ</given-names>
</name>
<name>
<surname>Kirkwood</surname>
<given-names>TB</given-names>
</name>
<name>
<surname>Rea</surname>
<given-names>IM</given-names>
</name>
<name>
<surname>Poulain</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Robine</surname>
<given-names>JM</given-names>
</name>
<name>
<surname>Valensin</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Stazi</surname>
<given-names>MA</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Deiana</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Gonos</surname>
<given-names>ES</given-names>
</name>
<name>
<surname>Paternoster</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Sørensen</surname>
<given-names>TI</given-names>
</name>
<name>
<surname>Tan</surname>
<given-names>Q</given-names>
</name>
<name>
<surname>Helmer</surname>
<given-names>Q</given-names>
</name>
<name>
<surname>van den Akker</surname>
<given-names>EB</given-names>
</name>
<name>
<surname>Deelen</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Martella</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Cordell</surname>
<given-names>HJ</given-names>
</name>
<name>
<surname>Ayers</surname>
<given-names>KL</given-names>
</name>
<name>
<surname>Vaupel</surname>
<given-names>JW</given-names>
</name>
<name>
<surname>Törnwall</surname>
<given-names>O</given-names>
</name>
<name>
<surname>Johnson</surname>
<given-names>TE</given-names>
</name>
<name>
<surname>Schreiber</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Lathrop</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Skytthe</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Westendorp</surname>
<given-names>RG</given-names>
</name>
<name>
<surname>Christensen</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Gampe</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Nebel</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Houwing-Duistermaat</surname>
<given-names>JJ</given-names>
</name>
<name>
<surname>Slagboom</surname>
<given-names>PE</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
</person-group>
<collab>GEHA consortium</collab>
<article-title>Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study</article-title>
<source>Aging Cell</source>
<year>2013</year>
<volume>12</volume>
<fpage>184</fpage>
<lpage>193</lpage>
<pub-id pub-id-type="pmid">23286790</pub-id>
</element-citation>
</ref>
<ref id="b4">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Bellizzi</surname>
<given-names>D</given-names>
</name>
<name>
<surname>D’Aquila</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Giordano</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Montesanto</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
</person-group>
<article-title>Global DNA methylation levels are modulated by mitochondrial DNA variants</article-title>
<source>Epigenomics</source>
<year>2012</year>
<volume>4</volume>
<fpage>17</fpage>
<lpage>27</lpage>
<pub-id pub-id-type="pmid">22332655</pub-id>
</element-citation>
</ref>
<ref id="b5">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Biffi</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Anderson</surname>
<given-names>CD</given-names>
</name>
<name>
<surname>Nalls</surname>
<given-names>MA</given-names>
</name>
<name>
<surname>Rahman</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Sonni</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Cortellini</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Rost</surname>
<given-names>NS</given-names>
</name>
<name>
<surname>Matarin</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Hernandez</surname>
<given-names>DG</given-names>
</name>
<name>
<surname>Plourde</surname>
<given-names>A</given-names>
</name>
<name>
<surname>de Bakker</surname>
<given-names>PI</given-names>
</name>
<name>
<surname>Ross</surname>
<given-names>OA</given-names>
</name>
<name>
<surname>Greenberg</surname>
<given-names>SM</given-names>
</name>
<name>
<surname>Furie</surname>
<given-names>KL</given-names>
</name>
<name>
<surname>Meschia</surname>
<given-names>JF</given-names>
</name>
<name>
<surname>Singleton</surname>
<given-names>AB</given-names>
</name>
<name>
<surname>Saxena</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Rosand</surname>
<given-names>J</given-names>
</name>
</person-group>
<article-title>Principal-component analysis for assessment of population stratification in mitochondrial medical genetics</article-title>
<source>Am. J. Hum. Genet</source>
<year>2010</year>
<volume>86</volume>
<fpage>904</fpage>
<lpage>917</lpage>
<pub-id pub-id-type="pmid">20537299</pub-id>
</element-citation>
</ref>
<ref id="b6">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Bratic</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Larsson</surname>
<given-names>NG</given-names>
</name>
</person-group>
<article-title>The role of mitochondria in aging</article-title>
<source>J. Clin. Invest</source>
<year>2013</year>
<volume>123</volume>
<fpage>951</fpage>
<lpage>957</lpage>
<pub-id pub-id-type="pmid">23454757</pub-id>
</element-citation>
</ref>
<ref id="b7">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Brown</surname>
<given-names>MD</given-names>
</name>
<name>
<surname>Shoffner</surname>
<given-names>JM</given-names>
</name>
<name>
<surname>Kim</surname>
<given-names>YL</given-names>
</name>
<name>
<surname>Jun</surname>
<given-names>AS</given-names>
</name>
<name>
<surname>Graham</surname>
<given-names>BH</given-names>
</name>
<name>
<surname>Cabell</surname>
<given-names>MF</given-names>
</name>
<name>
<surname>Gurley</surname>
<given-names>DS</given-names>
</name>
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA sequence analysis of four Alzheimer’s and Parkinson’s disease patients</article-title>
<source>Am. J. Med. Genet</source>
<year>1996</year>
<volume>61</volume>
<fpage>283</fpage>
<lpage>289</lpage>
<pub-id pub-id-type="pmid">8741876</pub-id>
</element-citation>
</ref>
<ref id="b8">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Brown</surname>
<given-names>MD</given-names>
</name>
<name>
<surname>Sun</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
</person-group>
<article-title>Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage</article-title>
<source>Am. J. Hum. Genet</source>
<year>1997</year>
<volume>60</volume>
<fpage>381</fpage>
<lpage>387</lpage>
<pub-id pub-id-type="pmid">9012411</pub-id>
</element-citation>
</ref>
<ref id="b9">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Carelli</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Achilli</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Valentino</surname>
<given-names>ML</given-names>
</name>
<name>
<surname>Rengo</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Semino</surname>
<given-names>O</given-names>
</name>
<name>
<surname>Pala</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Olivieri</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Mattiazzi</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Pallotti</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Carrara</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Zeviani</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Leuzzi</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Carducci</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Valle</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Simionati</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Mendieta</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Salomao</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Belfort</surname>
<given-names>R</given-names>
<suffix>Jr</suffix>
</name>
<name>
<surname>Sadun</surname>
<given-names>AA</given-names>
</name>
<name>
<surname>Torroni</surname>
<given-names>A</given-names>
</name>
</person-group>
<article-title>Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees</article-title>
<source>Am. J. Hum. Genet</source>
<year>2006</year>
<volume>78</volume>
<fpage>564</fpage>
<lpage>774</lpage>
<pub-id pub-id-type="pmid">16532388</pub-id>
</element-citation>
</ref>
<ref id="b10">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Collerton</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Ashok</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Martin-Ruiz</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Pyle</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Hudson</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Yadegarfar</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Davies</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Jagger</surname>
<given-names>C</given-names>
</name>
<name>
<surname>von Zglinicki</surname>
<given-names>T</given-names>
</name>
<name>
<surname>Kirkwood</surname>
<given-names>TB</given-names>
</name>
<name>
<surname>Chinnery</surname>
<given-names>PF</given-names>
</name>
</person-group>
<article-title>Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old</article-title>
<source>Neurobiol. Aging</source>
<year>2013</year>
<volume>34</volume>
<fpage>2889</fpage>
<pub-id pub-id-type="pmid">23639206</pub-id>
</element-citation>
</ref>
<ref id="b11">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Dato</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Rose</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Altomare</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Bellizzi</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Mari</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Feraco</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
<name>
<surname>De Benedictis</surname>
<given-names>G</given-names>
</name>
</person-group>
<article-title>Association of the mitochondrial DNA haplogroup J with longevity is population specific</article-title>
<source>Eur. J. Hum. Genet</source>
<year>2004</year>
<volume>12</volume>
<fpage>1080</fpage>
<lpage>1082</lpage>
<pub-id pub-id-type="pmid">15470367</pub-id>
</element-citation>
</ref>
<ref id="b12">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>De Benedictis</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Rose</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Carrieri</surname>
<given-names>G</given-names>
</name>
<name>
<surname>De Luca</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Falcone</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Bonafe</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Monti</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Baggio</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Bertolini</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Mari</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Mattace</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans</article-title>
<source>FASEB J</source>
<year>1999</year>
<volume>13</volume>
<fpage>1532</fpage>
<lpage>1536</lpage>
<pub-id pub-id-type="pmid">10463944</pub-id>
</element-citation>
</ref>
<ref id="b13">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Domínguez-Garrido</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Martínez-Redondo</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Martín-Ruiz</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Gómez-Durán</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Ruiz-Pesini</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Madero</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Tamparillas</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Montoya</surname>
<given-names>J</given-names>
</name>
<name>
<surname>von Zglinicki</surname>
<given-names>T</given-names>
</name>
<name>
<surname>Díez-Sánchez</surname>
<given-names>C</given-names>
</name>
<name>
<surname>López-Pérez</surname>
<given-names>MJ</given-names>
</name>
</person-group>
<article-title>Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations</article-title>
<source>Biogerontology</source>
<year>2009</year>
<volume>10</volume>
<fpage>435</fpage>
<lpage>442</lpage>
<pub-id pub-id-type="pmid">18931934</pub-id>
</element-citation>
</ref>
<ref id="b14">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Greaves</surname>
<given-names>LC</given-names>
</name>
<name>
<surname>Turnbull</surname>
<given-names>DM</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA mutations and ageing</article-title>
<source>Biochim. Biophys. Acta</source>
<year>2009</year>
<volume>1790</volume>
<fpage>1015</fpage>
<lpage>1020</lpage>
<pub-id pub-id-type="pmid">19409965</pub-id>
</element-citation>
</ref>
<ref id="b15">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Hutchin</surname>
<given-names>T</given-names>
</name>
<name>
<surname>Cortopassi</surname>
<given-names>G</given-names>
</name>
</person-group>
<article-title>A mitochondrial DNA clone is associated with increased risk for Alzheimer disease</article-title>
<source>Proc. Natl Acad. Sci. USA</source>
<year>1995</year>
<volume>92</volume>
<fpage>6892</fpage>
<lpage>6895</lpage>
<pub-id pub-id-type="pmid">7624338</pub-id>
</element-citation>
</ref>
<ref id="b16">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Ivanova</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Lepage</surname>
<given-names>V</given-names>
</name>
</person-group>
<article-title>Mitochondrial genotype associated with French Caucasian centenarians</article-title>
<source>Gerontology</source>
<year>1998</year>
<volume>44</volume>
<fpage>349</fpage>
<pub-id pub-id-type="pmid">9813436</pub-id>
</element-citation>
</ref>
<ref id="b17">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Lagouge</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Larsson</surname>
<given-names>NG</given-names>
</name>
</person-group>
<article-title>The role of mitochondrial DNA mutations and free radicals in disease and ageing</article-title>
<source>J. Intern. Med</source>
<year>2013</year>
<volume>273</volume>
<fpage>529</fpage>
<lpage>543</lpage>
<pub-id pub-id-type="pmid">23432181</pub-id>
</element-citation>
</ref>
<ref id="b18">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Man</surname>
<given-names>PY</given-names>
</name>
<name>
<surname>Howell</surname>
<given-names>N</given-names>
</name>
<name>
<surname>Mackey</surname>
<given-names>DA</given-names>
</name>
<name>
<surname>Nørby</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Rosenberg</surname>
<given-names>T</given-names>
</name>
<name>
<surname>Turnbull</surname>
<given-names>DM</given-names>
</name>
<name>
<surname>Chinnery</surname>
<given-names>PF</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees</article-title>
<source>J. Med. Genet</source>
<year>2004</year>
<volume>41</volume>
<fpage>e41</fpage>
<pub-id pub-id-type="pmid">15060117</pub-id>
</element-citation>
</ref>
<ref id="b19">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Moilanen</surname>
<given-names>JS</given-names>
</name>
<name>
<surname>Finnila</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Majamaa</surname>
<given-names>K</given-names>
</name>
</person-group>
<article-title>Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup</article-title>
<source>J. Mol. Biol. Evol</source>
<year>2003</year>
<volume>20</volume>
<fpage>2132</fpage>
<lpage>2142</lpage>
</element-citation>
</ref>
<ref id="b20">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Montiel-Sosa</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Ruiz-Pesini</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Enríquez</surname>
<given-names>JA</given-names>
</name>
<name>
<surname>Marcuello</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Díez-Sánchez</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Montoya</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
<name>
<surname>López-Pérez</surname>
<given-names>MJ</given-names>
</name>
</person-group>
<article-title>Differences of sperm motility in mitochondrial DNA haplogroup U sublineages</article-title>
<source>Gene</source>
<year>2006</year>
<volume>368</volume>
<fpage>21</fpage>
<lpage>27</lpage>
<pub-id pub-id-type="pmid">16326035</pub-id>
</element-citation>
</ref>
<ref id="b21">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Niemi</surname>
<given-names>AK</given-names>
</name>
<name>
<surname>Hervonen</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Hurme</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Karhunen</surname>
<given-names>PJ</given-names>
</name>
<name>
<surname>Jylhä</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Majamaa</surname>
<given-names>K</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA polymorphisms associated with longevity in a Finnish population</article-title>
<source>Hum. Genet</source>
<year>2003</year>
<volume>112</volume>
<fpage>29</fpage>
<lpage>33</lpage>
<pub-id pub-id-type="pmid">12483296</pub-id>
</element-citation>
</ref>
<ref id="b22">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>van Oven</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Kayser</surname>
<given-names>M</given-names>
</name>
</person-group>
<article-title>Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation</article-title>
<source>Hum. Mutat</source>
<year>2009</year>
<volume>30</volume>
<fpage>E386</fpage>
<lpage>E394</lpage>
<pub-id pub-id-type="pmid">18853457</pub-id>
</element-citation>
</ref>
<ref id="b23">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Rose</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Bellizzi</surname>
<given-names>D</given-names>
</name>
</person-group>
<article-title>Mitochondrial function, mitochondrial DNA and ageing: a reappraisal</article-title>
<source>Biogerontology</source>
<year>2010</year>
<volume>11</volume>
<fpage>575</fpage>
<lpage>588</lpage>
<pub-id pub-id-type="pmid">20602257</pub-id>
</element-citation>
</ref>
<ref id="b24">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Pinós</surname>
<given-names>T</given-names>
</name>
<name>
<surname>Nogales-Gadea</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Ruiz</surname>
<given-names>JR</given-names>
</name>
<name>
<surname>Rodríguez-Romo</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Santiago-Dorrego</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Fiuza-Luces</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Gómez-Gallego</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Cano-Nieto</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Garatachea</surname>
<given-names>N</given-names>
</name>
<name>
<surname>Morán</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Angel Martín</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Arenas</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Andreu</surname>
<given-names>AL</given-names>
</name>
<name>
<surname>Lucia</surname>
<given-names>A</given-names>
</name>
</person-group>
<article-title>Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort</article-title>
<source>Age</source>
<year>2012</year>
<volume>34</volume>
<fpage>227</fpage>
<lpage>233</lpage>
<pub-id pub-id-type="pmid">21274636</pub-id>
</element-citation>
</ref>
<ref id="b25">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Rollins</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Martin</surname>
<given-names>MV</given-names>
</name>
<name>
<surname>Sequeira</surname>
<given-names>PA</given-names>
</name>
<name>
<surname>Moon</surname>
<given-names>EA</given-names>
</name>
<name>
<surname>Morgan</surname>
<given-names>LZ</given-names>
</name>
<name>
<surname>Watson</surname>
<given-names>SJ</given-names>
</name>
<name>
<surname>Schatzberg</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Akil</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Myers</surname>
<given-names>RM</given-names>
</name>
<name>
<surname>Jones</surname>
<given-names>EG</given-names>
</name>
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
<name>
<surname>Bunney</surname>
<given-names>WE</given-names>
</name>
<name>
<surname>Vawter</surname>
<given-names>MP</given-names>
</name>
</person-group>
<article-title>Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder</article-title>
<source>PLoS ONE</source>
<year>2009</year>
<volume>4</volume>
<fpage>e4913</fpage>
<pub-id pub-id-type="pmid">19290059</pub-id>
</element-citation>
</ref>
<ref id="b26">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Rose</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Carrieri</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Altomare</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Greco</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Bertolini</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Bonafè</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
<name>
<surname>De Benedictis</surname>
<given-names>G</given-names>
</name>
</person-group>
<article-title>Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians</article-title>
<source>Eur. J. Hum. Genet</source>
<year>2001</year>
<volume>9</volume>
<fpage>701</fpage>
<lpage>707</lpage>
<pub-id pub-id-type="pmid">11571560</pub-id>
</element-citation>
</ref>
<ref id="b27">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Rose</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
<name>
<surname>De Benedictis</surname>
<given-names>G</given-names>
</name>
</person-group>
<article-title>The variability of the mitochondrial genome in human aging: a key for life and death?</article-title>
<source>Int. J. Biochem. Cell Biol</source>
<year>2002</year>
<volume>34</volume>
<fpage>1449</fpage>
<lpage>1460</lpage>
<pub-id pub-id-type="pmid">12200038</pub-id>
</element-citation>
</ref>
<ref id="b28">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Ross</surname>
<given-names>OA</given-names>
</name>
<name>
<surname>McCormack</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Curran</surname>
<given-names>MD</given-names>
</name>
<name>
<surname>Duguid</surname>
<given-names>RA</given-names>
</name>
<name>
<surname>Barnett</surname>
<given-names>YA</given-names>
</name>
<name>
<surname>Rea</surname>
<given-names>IM</given-names>
</name>
<name>
<surname>Middleton</surname>
<given-names>D</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA polymorphism: its role in longevity of the Irish population</article-title>
<source>Exp. Gerontol</source>
<year>2001</year>
<volume>36</volume>
<fpage>1161</fpage>
<lpage>1178</lpage>
<pub-id pub-id-type="pmid">11404057</pub-id>
</element-citation>
</ref>
<ref id="b30">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Ruiz-Pesini</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Lapeña</surname>
<given-names>AC</given-names>
</name>
<name>
<surname>Díez-Sánchez</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Pérez-Martos</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Montoya</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Alvarez</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Díaz</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Urriés</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Montoro</surname>
<given-names>L</given-names>
</name>
<name>
<surname>López-Pérez</surname>
<given-names>MJ</given-names>
</name>
<name>
<surname>Enríquez</surname>
<given-names>JA</given-names>
</name>
</person-group>
<article-title>Human mtDNA haplogroups associated with high or reduced spermatozoa motility</article-title>
<source>Am. J. Hum. Genet</source>
<year>2000</year>
<volume>67</volume>
<fpage>682</fpage>
<lpage>696</lpage>
<pub-id pub-id-type="pmid">10936107</pub-id>
</element-citation>
</ref>
<ref id="b31">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Santoro</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Salvioli</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Raule</surname>
<given-names>N</given-names>
</name>
<name>
<surname>Capri</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Sevini</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Valensin</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Monti</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Bellizzi</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Rose</surname>
<given-names>G</given-names>
</name>
<name>
<surname>De Benedictis</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA involvement in human longevity</article-title>
<source>Biochim. Biophys. Acta</source>
<year>2006</year>
<volume>1757</volume>
<fpage>1388</fpage>
<lpage>1399</lpage>
<pub-id pub-id-type="pmid">16857160</pub-id>
</element-citation>
</ref>
<ref id="b32">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Santoro</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Balbi</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Balducci</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Pirazzini</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Rosini</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Tavano</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Achilli</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Siviero</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Minicuci</surname>
<given-names>N</given-names>
</name>
<name>
<surname>Bellavista</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Mishto</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Salvioli</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Marchegiani</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Cardelli</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Olivieri</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Nacmias</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Chiamenti</surname>
<given-names>AM</given-names>
</name>
<name>
<surname>Benussi</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Ghidoni</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Rose</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Gabelli</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Binetti</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Sorbi</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Crepaldi</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Torroni</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
</person-group>
<article-title>Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer’s disease</article-title>
<source>PLoS ONE</source>
<year>2010</year>
<volume>5</volume>
<fpage>e12037</fpage>
<pub-id pub-id-type="pmid">20700462</pub-id>
</element-citation>
</ref>
<ref id="b35">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Shoffner</surname>
<given-names>JM</given-names>
</name>
<name>
<surname>Brown</surname>
<given-names>MD</given-names>
</name>
<name>
<surname>Torroni</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Lott</surname>
<given-names>MT</given-names>
</name>
<name>
<surname>Cabell</surname>
<given-names>MF</given-names>
</name>
<name>
<surname>Mirra</surname>
<given-names>SS</given-names>
</name>
<name>
<surname>Beal</surname>
<given-names>MF</given-names>
</name>
<name>
<surname>Yang</surname>
<given-names>CC</given-names>
</name>
<name>
<surname>Gearing</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Salvo</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Watts</surname>
<given-names>RL</given-names>
</name>
<name>
<surname>Juncos</surname>
<given-names>JL</given-names>
</name>
<name>
<surname>Hansen</surname>
<given-names>LA</given-names>
</name>
<name>
<surname>Crain</surname>
<given-names>BJ</given-names>
</name>
<name>
<surname>Fayad</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Reckord</surname>
<given-names>CL</given-names>
</name>
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients</article-title>
<source>Genomics</source>
<year>1993</year>
<volume>17</volume>
<fpage>171</fpage>
<lpage>184</lpage>
<pub-id pub-id-type="pmid">8104867</pub-id>
</element-citation>
</ref>
<ref id="b36">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Skytthe</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Valensin</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Jeune</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Cevenini</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Balard</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Beekman</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Bezrukov</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Blanche</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Bolund</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Broczek</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Carru</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Christensen</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Christiansen</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Collerton</surname>
<given-names>JC</given-names>
</name>
<name>
<surname>Cotichini</surname>
<given-names>R</given-names>
</name>
<name>
<surname>de Craen</surname>
<given-names>AJ</given-names>
</name>
<name>
<surname>Dato</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Davies</surname>
<given-names>K</given-names>
</name>
<name>
<surname>De Benedictis</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Deiana</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Flachsbart</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Gampe</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Gilbault</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Gonos</surname>
<given-names>ES</given-names>
</name>
<name>
<surname>Haimes</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Hervonen</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Hurme</surname>
<given-names>MA</given-names>
</name>
<name>
<surname>Janiszewska</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Jylhä</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Kirkwood</surname>
<given-names>TB</given-names>
</name>
<name>
<surname>Kristensen</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Laiho</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Leon</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Marchisio</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Masciulli</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Nebel</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Passarino</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Pelicci</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Peltonen</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Perola</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Poulain</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Rea</surname>
<given-names>IM</given-names>
</name>
<name>
<surname>Remacle</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Robine</surname>
<given-names>JM</given-names>
</name>
<name>
<surname>Schreiber</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Scurti</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Sevini</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Sikora</surname>
<given-names>E</given-names>
</name>
<name>
<surname>Skouteri</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Slagboom</surname>
<given-names>PE</given-names>
</name>
<name>
<surname>Spazzafumo</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Stazi</surname>
<given-names>MA</given-names>
</name>
<name>
<surname>Toccaceli</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Toussaint</surname>
<given-names>O</given-names>
</name>
<name>
<surname>Törnwall</surname>
<given-names>O</given-names>
</name>
<name>
<surname>Vaupel</surname>
<given-names>JW</given-names>
</name>
<name>
<surname>Voutetakis</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
</person-group>
<collab>GEHA consortium</collab>
<article-title>Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project</article-title>
<source>Exp. Gerontol</source>
<year>2011</year>
<volume>46</volume>
<fpage>934</fpage>
<lpage>945</lpage>
<pub-id pub-id-type="pmid">21871552</pub-id>
</element-citation>
</ref>
<ref id="b37">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Suissa</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Wang</surname>
<given-names>Z</given-names>
</name>
<name>
<surname>Poole</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Wittkopp</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Feder</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Shutt</surname>
<given-names>TE</given-names>
</name>
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
<name>
<surname>Shadel</surname>
<given-names>GS</given-names>
</name>
<name>
<surname>Mishmar</surname>
<given-names>D</given-names>
</name>
</person-group>
<article-title>Ancient mtDNA genetic variants modulate mtDNA transcription and replication</article-title>
<source>PLoS Genet</source>
<year>2009</year>
<volume>5</volume>
<fpage>e1000474</fpage>
<pub-id pub-id-type="pmid">19424428</pub-id>
</element-citation>
</ref>
<ref id="b38">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Tanaka</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Gong</surname>
<given-names>JS</given-names>
</name>
<name>
<surname>Zhang</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Yoneda</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Yagi</surname>
<given-names>K</given-names>
</name>
</person-group>
<article-title>Mitochondrial genotype associated with longevity</article-title>
<source>Lancet</source>
<year>1998</year>
<volume>351</volume>
<fpage>185</fpage>
<lpage>186</lpage>
<pub-id pub-id-type="pmid">9449878</pub-id>
</element-citation>
</ref>
<ref id="b39">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Tanaka</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Gong</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Zhang</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Yamada</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Borgeld</surname>
<given-names>HJ</given-names>
</name>
<name>
<surname>Yagi</surname>
<given-names>K</given-names>
</name>
</person-group>
<article-title>Mitochondrial genotype associated with longevity and its inhibitory effect on mutagenesis</article-title>
<source>Mech. Ageing Dev</source>
<year>2000</year>
<volume>116</volume>
<fpage>65</fpage>
<lpage>76</lpage>
<pub-id pub-id-type="pmid">10996007</pub-id>
</element-citation>
</ref>
<ref id="b40">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Torroni</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Huoponen</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Francalacci</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Petrozzi</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Morelli</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Scozzari</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Obinu</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Savontaus</surname>
<given-names>ML</given-names>
</name>
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
</person-group>
<article-title>Classification of European mtDNAs from an analysis of three European populations</article-title>
<source>Genetics</source>
<year>1996</year>
<volume>144</volume>
<fpage>1835</fpage>
<lpage>1850</lpage>
<pub-id pub-id-type="pmid">8978068</pub-id>
</element-citation>
</ref>
<ref id="b41">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Torroni</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Petrozzi</surname>
<given-names>M</given-names>
</name>
<name>
<surname>D’Urbano</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Sellitto</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Zeviani</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Carrara</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Carducci</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Leuzzi</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Carelli</surname>
<given-names>V</given-names>
</name>
<name>
<surname>Barboni</surname>
<given-names>P</given-names>
</name>
<name>
<surname>De Negri</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Scozzari</surname>
<given-names>R</given-names>
</name>
</person-group>
<article-title>Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484</article-title>
<source>Am. J. Hum. Genet</source>
<year>1997</year>
<volume>60</volume>
<fpage>1107</fpage>
<lpage>1121</lpage>
<pub-id pub-id-type="pmid">9150158</pub-id>
</element-citation>
</ref>
<ref id="b42">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Vianello</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Sevini</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Castellani</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Lomartire</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Capri</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Franceschi</surname>
<given-names>C</given-names>
</name>
</person-group>
<article-title>HAPLOFIND: a New Method for High-Throughput mtDNA Haplogroup Assignment</article-title>
<source>Hum. Mutat</source>
<year>2013</year>
<volume>34</volume>
<fpage>1189</fpage>
<lpage>1194</lpage>
<pub-id pub-id-type="pmid">23696374</pub-id>
</element-citation>
</ref>
<ref id="b43">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
</person-group>
<article-title>A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine</article-title>
<source>Annu. Rev. Genet</source>
<year>2005</year>
<volume>39</volume>
<fpage>359</fpage>
<lpage>407</lpage>
<pub-id pub-id-type="pmid">16285865</pub-id>
</element-citation>
</ref>
<ref id="b44">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Wallace</surname>
<given-names>DC</given-names>
</name>
</person-group>
<article-title>Mitochondrial DNA mutations in disease and aging</article-title>
<source>Environ. Mol. Mutagen</source>
<year>2010</year>
<volume>51</volume>
<fpage>440</fpage>
<lpage>450</lpage>
<pub-id pub-id-type="pmid">20544884</pub-id>
</element-citation>
</ref>
<ref id="b45">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>van der Walt</surname>
<given-names>JM</given-names>
</name>
<name>
<surname>Nicodemus</surname>
<given-names>KK</given-names>
</name>
<name>
<surname>Martin</surname>
<given-names>ER</given-names>
</name>
<name>
<surname>Scott</surname>
<given-names>WK</given-names>
</name>
<name>
<surname>Nance</surname>
<given-names>MA</given-names>
</name>
<name>
<surname>Watts</surname>
<given-names>RL</given-names>
</name>
<name>
<surname>Hubble</surname>
<given-names>JP</given-names>
</name>
<name>
<surname>Haines</surname>
<given-names>JL</given-names>
</name>
<name>
<surname>Koller</surname>
<given-names>WC</given-names>
</name>
<name>
<surname>Lyons</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Pahwa</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Stern</surname>
<given-names>MB</given-names>
</name>
<name>
<surname>Colcher</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Hiner</surname>
<given-names>BC</given-names>
</name>
<name>
<surname>Jankovic</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Ondo</surname>
<given-names>WG</given-names>
</name>
<name>
<surname>Allen</surname>
<given-names>FH</given-names>
<suffix>Jr</suffix>
</name>
<name>
<surname>Goetz</surname>
<given-names>CG</given-names>
</name>
<name>
<surname>Small</surname>
<given-names>GW</given-names>
</name>
<name>
<surname>Mastaglia</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Stajich</surname>
<given-names>JM</given-names>
</name>
<name>
<surname>McLaurin</surname>
<given-names>AC</given-names>
</name>
<name>
<surname>Middleton</surname>
<given-names>LT</given-names>
</name>
<name>
<surname>Scott</surname>
<given-names>BL</given-names>
</name>
<name>
<surname>Schmechel</surname>
<given-names>DE</given-names>
</name>
<name>
<surname>Pericak-Vance</surname>
<given-names>MA</given-names>
</name>
<name>
<surname>Vance</surname>
<given-names>JM</given-names>
</name>
</person-group>
<article-title>Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease</article-title>
<source>Am. J. Hum. Genet</source>
<year>2003</year>
<volume>72</volume>
<fpage>804</fpage>
<lpage>811</lpage>
<pub-id pub-id-type="pmid">12618962</pub-id>
</element-citation>
</ref>
<ref id="b46">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Wang</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Wang</surname>
<given-names>W</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Tian</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Goodman</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Fan</surname>
<given-names>W</given-names>
</name>
<name>
<surname>Zhang</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Zhang</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Guo</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Feng</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Lu</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Fang</surname>
<given-names>X</given-names>
</name>
<name>
<surname>Liang</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Du</surname>
<given-names>Z</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Zhao</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Hu</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Yang</surname>
<given-names>Z</given-names>
</name>
<name>
<surname>Zheng</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Hellmann</surname>
<given-names>I</given-names>
</name>
<name>
<surname>Inouye</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Pool</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Yi</surname>
<given-names>X</given-names>
</name>
<name>
<surname>Zhao</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Duan</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Zhou</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Qin</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Ma</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Yang</surname>
<given-names>Z</given-names>
</name>
<name>
<surname>Zhang</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Yang</surname>
<given-names>B</given-names>
</name>
<name>
<surname>Yu</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Liang</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>W</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Ni</surname>
<given-names>P</given-names>
</name>
<name>
<surname>Ruan</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>Q</given-names>
</name>
<name>
<surname>Zhu</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Liu</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Lu</surname>
<given-names>Z</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>N</given-names>
</name>
<name>
<surname>Guo</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Zhang</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Ye</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Fang</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Hao</surname>
<given-names>Q</given-names>
</name>
<name>
<surname>Chen</surname>
<given-names>Q</given-names>
</name>
<name>
<surname>Liang</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Su</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>San</surname>
<given-names>A</given-names>
</name>
<name>
<surname>Ping</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Yang</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Chen</surname>
<given-names>F</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Zhou</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Zheng</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Ren</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Yang</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Gao</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Yang</surname>
<given-names>G</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>Z</given-names>
</name>
<name>
<surname>Feng</surname>
<given-names>X</given-names>
</name>
<name>
<surname>Kristiansen</surname>
<given-names>K</given-names>
</name>
<name>
<surname>Wong</surname>
<given-names>GK</given-names>
</name>
<name>
<surname>Nielsen</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Durbin</surname>
<given-names>R</given-names>
</name>
<name>
<surname>Bolund</surname>
<given-names>L</given-names>
</name>
<name>
<surname>Zhang</surname>
<given-names>X</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Yang</surname>
<given-names>H</given-names>
</name>
<name>
<surname>Wang</surname>
<given-names>J</given-names>
</name>
</person-group>
<article-title>The diploid genome sequence of an Asian individual</article-title>
<source>Nature</source>
<year>2008</year>
<volume>456</volume>
<fpage>60</fpage>
<lpage>65</lpage>
<pub-id pub-id-type="pmid">18987735</pub-id>
</element-citation>
</ref>
<ref id="b47">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Wu</surname>
<given-names>MC</given-names>
</name>
<name>
<surname>Lee</surname>
<given-names>S</given-names>
</name>
<name>
<surname>Cai</surname>
<given-names>T</given-names>
</name>
<name>
<surname>Li</surname>
<given-names>Y</given-names>
</name>
<name>
<surname>Boehnke</surname>
<given-names>M</given-names>
</name>
<name>
<surname>Lin</surname>
<given-names>X</given-names>
</name>
</person-group>
<article-title>Rare-variant association testing for sequencing data with the sequence kernel association test</article-title>
<source>Am. J. Hum. Genet</source>
<year>2011</year>
<volume>89</volume>
<fpage>82</fpage>
<lpage>93</lpage>
<pub-id pub-id-type="pmid">21737059</pub-id>
</element-citation>
</ref>
<ref id="b48">
<element-citation publication-type="journal">
<person-group person-group-type="author">
<name>
<surname>Zheng</surname>
<given-names>X</given-names>
</name>
<name>
<surname>Levine</surname>
<given-names>D</given-names>
</name>
<name>
<surname>Shen</surname>
<given-names>J</given-names>
</name>
<name>
<surname>Gogarten</surname>
<given-names>SM</given-names>
</name>
<name>
<surname>Laurie</surname>
<given-names>C</given-names>
</name>
<name>
<surname>Weir</surname>
<given-names>BS</given-names>
</name>
</person-group>
<article-title>A high-performance computing toolset for relatedness and principal component analysis of SNP data</article-title>
<source>Bioinformatics</source>
<year>2012</year>
<volume>28</volume>
<fpage>3326</fpage>
<lpage>3328</lpage>
<pub-id pub-id-type="pmid">23060615</pub-id>
</element-citation>
</ref>
</ref-list>
<sec sec-type="supplementary-material">
<title>Supporting Information</title>
<p>Additional Supporting Information may be found in the online version of this article at the publisher’s web-site.</p>
<supplementary-material content-type="local-data" id="sd1">
<caption>
<p>
<bold>Fig. S1</bold>
Scatterplot of the first two principal component scores based on the 229 SNPs (MAF > 0.01) identified in the 1291 mtDNA analyzed sequences.</p>
</caption>
<media mimetype="pdf" mime-subtype="pdf" xlink:href="acel0013-0401-sd1.pdf" xlink:type="simple" id="d35e5309" position="anchor"></media>
</supplementary-material>
<supplementary-material content-type="local-data" id="sd2">
<caption>
<p>
<bold>Table S1.</bold>
a and b. Haplogroup distribution in males and females.</p>
</caption>
<media mimetype="pdf" mime-subtype="pdf" xlink:href="acel0013-0401-sd2.pdf" xlink:type="simple" id="d35e5316" position="anchor"></media>
</supplementary-material>
<supplementary-material content-type="local-data" id="sd3">
<caption>
<p>
<bold>Table S2.</bold>
List of all the mutations identified in our sample by the complete mtDNA sequencing.</p>
</caption>
<media mimetype="pdf" mime-subtype="pdf" xlink:href="acel0013-0401-sd3.pdf" xlink:type="simple" id="d35e5323" position="anchor"></media>
</supplementary-material>
<supplementary-material content-type="local-data" id="sd4">
<caption>
<p>
<bold>Table S3.</bold>
mtDNA mutations found in our study and previously associated with diseases.</p>
<p>
<bold>Table S4.</bold>
Distribution of 90+ and controls from different centers participating in the GEHA project.</p>
<p>
<bold>Table S5.</bold>
Sample distribution and general characteristics of the study participants.</p>
<p>
<bold>Table S6.</bold>
Modified primer pairs for complete resequencing.</p>
</caption>
<media mimetype="pdf" mime-subtype="pdf" xlink:href="acel0013-0401-sd4.pdf" xlink:type="simple" id="d35e5342" position="anchor"></media>
</supplementary-material>
</sec>
</back>
</pmc>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000686 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000686 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    ParkinsonFranceV1
   |flux=    Pmc
   |étape=   Corpus
   |type=    RBID
   |clé=     PMC:4326891
   |texte=   The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i   -Sk "pubmed:24341918" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd   \
       | NlmPubMed2Wicri -a ParkinsonFranceV1 

Wicri

This area was generated with Dilib version V0.6.29.
Data generation: Wed May 17 19:46:39 2017. Site generation: Mon Mar 4 15:48:15 2024