Movement Disorders (revue)

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Alpha-synuclein REP1 variants and survival in Parkinson’s disease

Identifieur interne : 000049 ( Pmc/Checkpoint ); précédent : 000048; suivant : 000050

Alpha-synuclein REP1 variants and survival in Parkinson’s disease

Auteurs : Sun Ju Chung [Corée du Sud] ; Joanna M. Biernacka [États-Unis] ; Sebastian M. Armasu [États-Unis] ; Kari Anderson [États-Unis] ; Roberta Frigerio [États-Unis] ; Jan O. Aasly [Norvège] ; Grazia Annesi [Italie] ; Anna Rita Bentivoglio [Italie] ; Laura Brighina [Italie] ; Marie-Christine Chartier-Harlin [France] ; Stefano Goldwurm [Italie] ; Georgios Hadjigeorgiou [Grèce] ; Barbara Jasinska-Myga [Pologne, États-Unis] ; Beom Seok Jeon [Corée du Sud] ; Yun Joong Kim [Corée du Sud] ; Rejko Krüger [Allemagne] ; Suzanne Lesage [France] ; Katerina Markopoulou [États-Unis] ; George Mellick [Australie] ; Karen E. Morrison ; Andreas Puschmann [Suède] ; Eng-King Tan [Singapour] ; Jessie Theuns [Belgique] ; Karin Wirdefeldt [Suède] ; Zbigniew K. Wszolek [États-Unis] ; Alexis Elbaz [France] ; Demetrius M. Maraganore [États-Unis]

Source :

RBID : PMC:4172351

Abstract

Objectives

To determine if alpha-synuclein REP1 genotypes are associated with survival in Parkinson’s disease.

Methods

Investigators from the Genetic Epidemiology of Parkinson’s Disease Consortium provided REP1 genotypes and baseline and follow-up clinical data for cases. The primary outcome was time to death. Cox proportional hazards regression models were used to assess the association of REP1 genotypes with survival.

Results

Twenty-one sites contributed data for 6,154 cases. There was no significant association between alpha-synuclein REP1 genotypes and survival in Parkinson’s disease. However, there was a significant association between REP1 genotypes and age at onset of PD (Hazard Ratio = 1.06, 95% Confidence Interval = 1.01–1.10, p value = 0.01).

Conclusions

In our large consortium study, alpha-synuclein REP1 genotypes were not associated with survival in Parkinson’s disease. Further studies of α–synuclein’s role in disease progression and long-term outcomes are needed.


Url:
DOI: 10.1002/mds.25841
PubMed: 24578302
PubMed Central: 4172351


Affiliations:


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PMC:4172351

Le document en format XML

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<name sortKey="Chung, Sun Ju" sort="Chung, Sun Ju" uniqKey="Chung S" first="Sun Ju" last="Chung">Sun Ju Chung</name>
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<name sortKey="Anderson, Kari" sort="Anderson, Kari" uniqKey="Anderson K" first="Kari" last="Anderson">Kari Anderson</name>
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</author>
<author>
<name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
<affiliation wicri:level="3">
<nlm:aff id="A6">Department of Neurology, Catholic University, Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, Catholic University, Rome</wicri:regionArea>
<placeName>
<settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name>
<affiliation wicri:level="1">
<nlm:aff id="A7">Department of Neurology, San Gerardo Hospital, Monza, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, San Gerardo Hospital, Monza</wicri:regionArea>
<wicri:noRegion>Monza</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name>
<affiliation wicri:level="1">
<nlm:aff id="A8">Inserm UMR837, Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm UMR837, Lille</wicri:regionArea>
<placeName>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
<affiliation>
<nlm:aff id="A9">Univ Lille Nord de France</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name>
<affiliation wicri:level="3">
<nlm:aff id="A10">Parkinson Institute, IstitutiClinici di Perfezionamento, Milan, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Parkinson Institute, IstitutiClinici di Perfezionamento, Milan</wicri:regionArea>
<placeName>
<settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Hadjigeorgiou, Georgios" sort="Hadjigeorgiou, Georgios" uniqKey="Hadjigeorgiou G" first="Georgios" last="Hadjigeorgiou">Georgios Hadjigeorgiou</name>
<affiliation wicri:level="1">
<nlm:aff id="A11">Faculty of Medicine, University of Thessalia, Larissa, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Faculty of Medicine, University of Thessalia, Larissa</wicri:regionArea>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
<affiliation wicri:level="1">
<nlm:aff id="A12">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea>
<wicri:noRegion>Katowice</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A13">Department of Neurology, Mayo Clinic, Jacksonville, FL USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">Floride</region>
</placeName>
<wicri:cityArea>Department of Neurology, Mayo Clinic, Jacksonville</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Jeon, Beom Seok" sort="Jeon, Beom Seok" uniqKey="Jeon B" first="Beom Seok" last="Jeon">Beom Seok Jeon</name>
<affiliation wicri:level="3">
<nlm:aff id="A14">Seoul National University Hospital, Seoul, Republic of Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Seoul National University Hospital, Seoul</wicri:regionArea>
<placeName>
<settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Kim, Yun Joong" sort="Kim, Yun Joong" uniqKey="Kim Y" first="Yun Joong" last="Kim">Yun Joong Kim</name>
<affiliation wicri:level="3">
<nlm:aff id="A15">Department of Neurology, Hallym University, Seoul, Korea</nlm:aff>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Neurology, Hallym University, Seoul</wicri:regionArea>
<placeName>
<settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name>
<affiliation wicri:level="3">
<nlm:aff id="A16">Center of Neurology and Hertie-Institute for Clinical Brain Research, Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center of Neurology and Hertie-Institute for Clinical Brain Research, Tübingen</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation wicri:level="1">
<nlm:aff id="A17">Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelleépinière, UMR-S975; Inserm, U975, Cnrs, UMR 7225, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelleépinière, UMR-S975; Inserm, U975, Cnrs, UMR 7225, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Markopoulou, Katerina" sort="Markopoulou, Katerina" uniqKey="Markopoulou K" first="Katerina" last="Markopoulou">Katerina Markopoulou</name>
<affiliation wicri:level="2">
<nlm:aff id="A18">Department of Neurology, NorthShore University HealthSystem, Evanston, IL USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">Illinois</region>
</placeName>
<wicri:cityArea>Department of Neurology, NorthShore University HealthSystem, Evanston</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Mellick, George" sort="Mellick, George" uniqKey="Mellick G" first="George" last="Mellick">George Mellick</name>
<affiliation wicri:level="1">
<nlm:aff id="A19">Eskitis Institute for Cell and Molecular Therapies, Griffith University, Nathan, QLD, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Nathan, QLD</wicri:regionArea>
<wicri:noRegion>QLD</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E." last="Morrison">Karen E. Morrison</name>
<affiliation>
<nlm:aff id="A20">School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham UK</nlm:aff>
<wicri:noCountry code="subfield">Birmingham UK</wicri:noCountry>
</affiliation>
</author>
<author>
<name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation wicri:level="1">
<nlm:aff id="A21">Section of Neurology, Department of Clinical Sciences, Lund University, Lund, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Section of Neurology, Department of Clinical Sciences, Lund University, Lund</wicri:regionArea>
<wicri:noRegion>Lund</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name>
<affiliation wicri:level="1">
<nlm:aff id="A22">Singapore General Hospital, National Neuroscience Institute, Singapore, Singapore</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Singapore General Hospital, National Neuroscience Institute, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
<affiliation wicri:level="1">
<nlm:aff id="A23">Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp</wicri:regionArea>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<nlm:aff id="A24">Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName>
<settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Wirdefeldt, Karin" sort="Wirdefeldt, Karin" uniqKey="Wirdefeldt K" first="Karin" last="Wirdefeldt">Karin Wirdefeldt</name>
<affiliation wicri:level="3">
<nlm:aff id="A25">Department of Medical Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Medical Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName>
<settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="2">
<nlm:aff id="A26">Department of Neurology, Mayo Clinic, Jacksonville, FL USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">Floride</region>
</placeName>
<wicri:cityArea>Department of Neurology, Mayo Clinic, Jacksonville</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<affiliation wicri:level="3">
<nlm:aff id="A27">Inserm, Centre for Research in Epidemiology and Population Health, U1018, Social and occupational determinants of health, F-94807, Villejuif, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm, Centre for Research in Epidemiology and Population Health, U1018, Social and occupational determinants of health, F-94807, Villejuif</wicri:regionArea>
<placeName>
<region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Villejuif</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A28">Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif</wicri:regionArea>
<placeName>
<region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Villejuif</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<affiliation wicri:level="2">
<nlm:aff id="A18">Department of Neurology, NorthShore University HealthSystem, Evanston, IL USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">Illinois</region>
</placeName>
<wicri:cityArea>Department of Neurology, NorthShore University HealthSystem, Evanston</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint>
<date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<sec id="S1">
<title>Objectives</title>
<p id="P1">To determine if alpha-synuclein REP1 genotypes are associated with survival in Parkinson’s disease.</p>
</sec>
<sec id="S2">
<title>Methods</title>
<p id="P2">Investigators from the Genetic Epidemiology of Parkinson’s Disease Consortium provided REP1 genotypes and baseline and follow-up clinical data for cases. The primary outcome was time to death. Cox proportional hazards regression models were used to assess the association of REP1 genotypes with survival.</p>
</sec>
<sec id="S3">
<title>Results</title>
<p id="P3">Twenty-one sites contributed data for 6,154 cases. There was no significant association between alpha-synuclein REP1 genotypes and survival in Parkinson’s disease. However, there was a significant association between REP1 genotypes and age at onset of PD (Hazard Ratio = 1.06, 95% Confidence Interval = 1.01–1.10,
<italic>p</italic>
value = 0.01).</p>
</sec>
<sec id="S4">
<title>Conclusions</title>
<p id="P4">In our large consortium study, alpha-synuclein REP1 genotypes were not associated with survival in Parkinson’s disease. Further studies of α–synuclein’s role in disease progression and long-term outcomes are needed.</p>
</sec>
</div>
</front>
</TEI>
<pmc article-type="research-article">
<pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front>
<journal-meta>
<journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id>
<journal-title-group>
<journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
</journal-title-group>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta>
<article-id pub-id-type="pmid">24578302</article-id>
<article-id pub-id-type="pmc">4172351</article-id>
<article-id pub-id-type="doi">10.1002/mds.25841</article-id>
<article-id pub-id-type="manuscript">NIHMS628194</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Article</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>Alpha-synuclein REP1 variants and survival in Parkinson’s disease</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Chung</surname>
<given-names>Sun Ju</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Biernacka</surname>
<given-names>Joanna M.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Armasu</surname>
<given-names>Sebastian M.</given-names>
</name>
<degrees>MS</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Anderson</surname>
<given-names>Kari</given-names>
</name>
<degrees>MS</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Frigerio</surname>
<given-names>Roberta</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Aasly</surname>
<given-names>Jan O.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Annesi</surname>
<given-names>Grazia</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bentivoglio</surname>
<given-names>Anna Rita</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Brighina</surname>
<given-names>Laura</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Chartier-Harlin</surname>
<given-names>Marie-Christine</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A8">8</xref>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Goldwurm</surname>
<given-names>Stefano</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A10">10</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hadjigeorgiou</surname>
<given-names>Georgios</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A11">11</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Jasinska-Myga</surname>
<given-names>Barbara</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A12">12</xref>
<xref ref-type="aff" rid="A13">13</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Jeon</surname>
<given-names>Beom Seok</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A14">14</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Kim</surname>
<given-names>Yun Joong</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A15">15</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Krüger</surname>
<given-names>Rejko</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A16">16</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lesage</surname>
<given-names>Suzanne</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A17">17</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Markopoulou</surname>
<given-names>Katerina</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Mellick</surname>
<given-names>George</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A19">19</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Morrison</surname>
<given-names>Karen E.</given-names>
</name>
<degrees>DPhil</degrees>
<xref ref-type="aff" rid="A20">20</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Puschmann</surname>
<given-names>Andreas</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A21">21</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Tan</surname>
<given-names>Eng-King</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A22">22</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Theuns</surname>
<given-names>Jessie</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A23">23</xref>
<xref ref-type="aff" rid="A24">24</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Wirdefeldt</surname>
<given-names>Karin</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A25">25</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Wszolek</surname>
<given-names>Zbigniew K.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A26">26</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Elbaz</surname>
<given-names>Alexis</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A27">27</xref>
<xref ref-type="aff" rid="A28">28</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Maraganore</surname>
<given-names>Demetrius M.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A18">18</xref>
<xref rid="FN1" ref-type="author-notes">*</xref>
</contrib>
<on-behalf-of>on behalf of the Genetic Epidemiology of Parkinson’s Disease Consortium</on-behalf-of>
</contrib-group>
<aff id="A1">
<label>1</label>
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</aff>
<aff id="A2">
<label>2</label>
Department of Health Sciences Research, Mayo Clinic, Rochester, MN</aff>
<aff id="A3">
<label>3</label>
Research Institute, NorthShore University HealthSystem, Evanston, IL</aff>
<aff id="A4">
<label>4</label>
St. Olav’s Hospital, Department of Neurology, Trondheim, Norway</aff>
<aff id="A5">
<label>5</label>
Institute of Neurological Sciences, National Research Council, Italy</aff>
<aff id="A6">
<label>6</label>
Department of Neurology, Catholic University, Rome, Italy</aff>
<aff id="A7">
<label>7</label>
Department of Neurology, San Gerardo Hospital, Monza, Italy</aff>
<aff id="A8">
<label>8</label>
Inserm UMR837, Lille, France</aff>
<aff id="A9">
<label>9</label>
Univ Lille Nord de France</aff>
<aff id="A10">
<label>10</label>
Parkinson Institute, IstitutiClinici di Perfezionamento, Milan, Italy</aff>
<aff id="A11">
<label>11</label>
Faculty of Medicine, University of Thessalia, Larissa, Greece</aff>
<aff id="A12">
<label>12</label>
Department of Neurology, Medical University of Silesia, Katowice, Poland</aff>
<aff id="A13">
<label>13</label>
Department of Neurology, Mayo Clinic, Jacksonville, FL USA</aff>
<aff id="A14">
<label>14</label>
Seoul National University Hospital, Seoul, Republic of Korea</aff>
<aff id="A15">
<label>15</label>
Department of Neurology, Hallym University, Seoul, Korea</aff>
<aff id="A16">
<label>16</label>
Center of Neurology and Hertie-Institute for Clinical Brain Research, Tübingen, Germany</aff>
<aff id="A17">
<label>17</label>
Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelleépinière, UMR-S975; Inserm, U975, Cnrs, UMR 7225, Paris, France</aff>
<aff id="A18">
<label>18</label>
Department of Neurology, NorthShore University HealthSystem, Evanston, IL USA</aff>
<aff id="A19">
<label>19</label>
Eskitis Institute for Cell and Molecular Therapies, Griffith University, Nathan, QLD, Australia</aff>
<aff id="A20">
<label>20</label>
School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham UK</aff>
<aff id="A21">
<label>21</label>
Section of Neurology, Department of Clinical Sciences, Lund University, Lund, Sweden</aff>
<aff id="A22">
<label>22</label>
Singapore General Hospital, National Neuroscience Institute, Singapore, Singapore</aff>
<aff id="A23">
<label>23</label>
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium</aff>
<aff id="A24">
<label>24</label>
Institute Born-Bunge, University of Antwerp, Antwerp, Belgium</aff>
<aff id="A25">
<label>25</label>
Department of Medical Epidemiology and Biostatistics and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden</aff>
<aff id="A26">
<label>26</label>
Department of Neurology, Mayo Clinic, Jacksonville, FL USA</aff>
<aff id="A27">
<label>27</label>
Inserm, Centre for Research in Epidemiology and Population Health, U1018, Social and occupational determinants of health, F-94807, Villejuif, France</aff>
<aff id="A28">
<label>28</label>
Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</aff>
<author-notes>
<corresp id="FN1">
<label>*</label>
Corresponding Author: Dr. Demetrius M. Maraganore, Ruth Cain Ruggles Chairman, Department of Neurology, NorthShore University HealthSystem, 2650 Ridge Avenue, Evanston, IL 60201.
<email>dmaraganore@northshore.org</email>
, Telephone: +1 847 570 1678, Fax: +1 847 733 5565</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted">
<day>15</day>
<month>9</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub">
<day>27</day>
<month>2</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="ppub">
<month>7</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release">
<day>01</day>
<month>7</month>
<year>2015</year>
</pub-date>
<volume>29</volume>
<issue>8</issue>
<fpage>1053</fpage>
<lpage>1057</lpage>
<pmc-comment>elocation-id from pubmed: 10.1002/mds.25841</pmc-comment>
<abstract>
<sec id="S1">
<title>Objectives</title>
<p id="P1">To determine if alpha-synuclein REP1 genotypes are associated with survival in Parkinson’s disease.</p>
</sec>
<sec id="S2">
<title>Methods</title>
<p id="P2">Investigators from the Genetic Epidemiology of Parkinson’s Disease Consortium provided REP1 genotypes and baseline and follow-up clinical data for cases. The primary outcome was time to death. Cox proportional hazards regression models were used to assess the association of REP1 genotypes with survival.</p>
</sec>
<sec id="S3">
<title>Results</title>
<p id="P3">Twenty-one sites contributed data for 6,154 cases. There was no significant association between alpha-synuclein REP1 genotypes and survival in Parkinson’s disease. However, there was a significant association between REP1 genotypes and age at onset of PD (Hazard Ratio = 1.06, 95% Confidence Interval = 1.01–1.10,
<italic>p</italic>
value = 0.01).</p>
</sec>
<sec id="S4">
<title>Conclusions</title>
<p id="P4">In our large consortium study, alpha-synuclein REP1 genotypes were not associated with survival in Parkinson’s disease. Further studies of α–synuclein’s role in disease progression and long-term outcomes are needed.</p>
</sec>
</abstract>
<kwd-group>
<kwd>Parkinson’s disease</kwd>
<kwd>α-synuclein</kwd>
<kwd>gene</kwd>
<kwd>survival</kwd>
<kwd>association</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Corée du Sud</li>
<li>France</li>
<li>Grèce</li>
<li>Italie</li>
<li>Norvège</li>
<li>Pologne</li>
<li>Singapour</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region>
<li>Bade-Wurtemberg</li>
<li>District de Tübingen</li>
<li>Floride</li>
<li>Illinois</li>
<li>Latium</li>
<li>Lombardie</li>
<li>Minnesota</li>
<li>Province d'Anvers</li>
<li>Svealand</li>
<li>Trøndelag</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Anvers</li>
<li>Lille</li>
<li>Milan</li>
<li>Paris</li>
<li>Rome</li>
<li>Stockholm</li>
<li>Séoul</li>
<li>Trondheim</li>
<li>Tübingen</li>
<li>Villejuif</li>
</settlement>
<orgName>
<li>Université d'Anvers</li>
</orgName>
</list>
<tree>
<noCountry>
<name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E." last="Morrison">Karen E. Morrison</name>
</noCountry>
<country name="Corée du Sud">
<noRegion>
<name sortKey="Chung, Sun Ju" sort="Chung, Sun Ju" uniqKey="Chung S" first="Sun Ju" last="Chung">Sun Ju Chung</name>
</noRegion>
<name sortKey="Jeon, Beom Seok" sort="Jeon, Beom Seok" uniqKey="Jeon B" first="Beom Seok" last="Jeon">Beom Seok Jeon</name>
<name sortKey="Kim, Yun Joong" sort="Kim, Yun Joong" uniqKey="Kim Y" first="Yun Joong" last="Kim">Yun Joong Kim</name>
</country>
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<region name="Minnesota">
<name sortKey="Biernacka, Joanna M" sort="Biernacka, Joanna M" uniqKey="Biernacka J" first="Joanna M." last="Biernacka">Joanna M. Biernacka</name>
</region>
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<name sortKey="Armasu, Sebastian M" sort="Armasu, Sebastian M" uniqKey="Armasu S" first="Sebastian M." last="Armasu">Sebastian M. Armasu</name>
<name sortKey="Frigerio, Roberta" sort="Frigerio, Roberta" uniqKey="Frigerio R" first="Roberta" last="Frigerio">Roberta Frigerio</name>
<name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
<name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<name sortKey="Markopoulou, Katerina" sort="Markopoulou, Katerina" uniqKey="Markopoulou K" first="Katerina" last="Markopoulou">Katerina Markopoulou</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</country>
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<region name="Trøndelag">
<name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name>
</region>
</country>
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<noRegion>
<name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
</noRegion>
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<name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name>
<name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name>
</country>
<country name="France">
<noRegion>
<name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name>
</noRegion>
<name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
</country>
<country name="Grèce">
<noRegion>
<name sortKey="Hadjigeorgiou, Georgios" sort="Hadjigeorgiou, Georgios" uniqKey="Hadjigeorgiou G" first="Georgios" last="Hadjigeorgiou">Georgios Hadjigeorgiou</name>
</noRegion>
</country>
<country name="Pologne">
<noRegion>
<name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
</noRegion>
</country>
<country name="Allemagne">
<region name="Bade-Wurtemberg">
<name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name>
</region>
</country>
<country name="Australie">
<noRegion>
<name sortKey="Mellick, George" sort="Mellick, George" uniqKey="Mellick G" first="George" last="Mellick">George Mellick</name>
</noRegion>
</country>
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<noRegion>
<name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
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<name sortKey="Wirdefeldt, Karin" sort="Wirdefeldt, Karin" uniqKey="Wirdefeldt K" first="Karin" last="Wirdefeldt">Karin Wirdefeldt</name>
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<noRegion>
<name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name>
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<name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
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<name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
</country>
</tree>
</affiliations>
</record>

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