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TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

Identifieur interne : 001B98 ( Pmc/Curation ); précédent : 001B97; suivant : 001B99

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

Auteurs : Michael D. Gallagher [États-Unis] ; Eunran Suh [États-Unis] ; Murray Grossman [États-Unis] ; Lauren Elman [États-Unis] ; Leo Mccluskey [États-Unis] ; John C. Van Swieten [Pays-Bas] ; Safa Al-Sarraj [Royaume-Uni] ; Manuela Neumann [Allemagne] ; Ellen Gelpi [Espagne] ; Bernardino Ghetti [États-Unis] ; Jonathan D. Rohrer [Royaume-Uni] ; Glenda Halliday [Australie] ; Christine Van Broeckhoven [Belgique] ; Danielle Seilhean [France] ; Pamela J. Shaw [Royaume-Uni] ; Matthew P. Frosch [États-Unis] ; John Q. Trojanowski [États-Unis] ; Virginia M. Y. Lee [États-Unis] ; Vivianna Van Deerlin [États-Unis] ; Alice S. Chen-Plotkin [États-Unis]

Source :

RBID : PMC:4003885

Abstract

Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), and may be the most common genetic cause of both neurodegenerative diseases. Genetic variants at TMEM106B influence risk for the most common neuropathological subtype of FTLD, characterized by inclusions of TAR DNA binding protein of 43kDa (FTLD-TDP). Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (GRN) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. Here we report that rs1990622 genotype affects age at death in a single-site discovery cohort of FTLD patients with C9orf72 expansions (n=14), with the major allele correlated with later age at death (p=0.024). We replicate this modifier effect in a 30-site international neuropathological cohort of FTLD-TDP patients with C9orf72 expansions (n=75), again finding that the major allele associates with later age at death (p=0.016), as well as later age at onset (p=0.019). In contrast, TMEM106B genotype does not affect age at onset or death in 241 FTLD-TDP cases negative for GRN mutations or C9orf72 expansions. Thus, TMEM106B is a genetic modifier of FTLD with C9orf72 expansions. Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.


Url:
DOI: 10.1007/s00401-013-1239-x
PubMed: 24442578
PubMed Central: 4003885

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is a genetic modifier of frontotemporal lobar degeneration with
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hexanucleotide repeat expansions</title>
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<name sortKey="Mccluskey, Leo" sort="Mccluskey, Leo" uniqKey="Mccluskey L" first="Leo" last="Mccluskey">Leo Mccluskey</name>
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<name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C." last="Van Swieten">John C. Van Swieten</name>
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<nlm:aff id="A5">Alzheimercenter Vumc, Boelelaan 1118, Amsterdam</nlm:aff>
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<settlement type="city">Amsterdam</settlement>
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<name sortKey="Al Sarraj, Safa" sort="Al Sarraj, Safa" uniqKey="Al Sarraj S" first="Safa" last="Al-Sarraj">Safa Al-Sarraj</name>
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<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
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<name sortKey="Neumann, Manuela" sort="Neumann, Manuela" uniqKey="Neumann M" first="Manuela" last="Neumann">Manuela Neumann</name>
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<name sortKey="Gelpi, Ellen" sort="Gelpi, Ellen" uniqKey="Gelpi E" first="Ellen" last="Gelpi">Ellen Gelpi</name>
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<name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name>
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<region type="state">Indiana</region>
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<wicri:cityArea>Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis</wicri:cityArea>
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<name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name>
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<name sortKey="Halliday, Glenda" sort="Halliday, Glenda" uniqKey="Halliday G" first="Glenda" last="Halliday">Glenda Halliday</name>
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<nlm:aff id="A13">Faculty of Medicine, University of New South Wales, Australia</nlm:aff>
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<name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
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<nlm:aff id="A14">Neurodegenerative Brain Disease Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, 2610 Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
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<name sortKey="Seilhean, Danielle" sort="Seilhean, Danielle" uniqKey="Seilhean D" first="Danielle" last="Seilhean">Danielle Seilhean</name>
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<nlm:aff id="A15">University Pierre et Marie Curie (UPMC)-Sorbonne University, France</nlm:aff>
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<name sortKey="Shaw, Pamela J" sort="Shaw, Pamela J" uniqKey="Shaw P" first="Pamela J." last="Shaw">Pamela J. Shaw</name>
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<nlm:aff id="A16">University of Sheffield, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>University of Sheffield</wicri:regionArea>
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<name sortKey="Frosch, Matthew P" sort="Frosch, Matthew P" uniqKey="Frosch M" first="Matthew P." last="Frosch">Matthew P. Frosch</name>
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<nlm:aff id="A17">Massachusetts Alzheimer’s Disease Research Center, Harvard Medical School, Boston, MA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<region type="state">Massachusetts</region>
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<wicri:cityArea>Massachusetts Alzheimer’s Disease Research Center, Harvard Medical School, Boston</wicri:cityArea>
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<name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name>
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<nlm:aff id="A3">Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
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<region type="state">Pennsylvanie</region>
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<name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M. Y." last="Lee">Virginia M. Y. Lee</name>
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<nlm:aff id="A3">Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
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<region type="state">Pennsylvanie</region>
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<name sortKey="Van Deerlin, Vivianna" sort="Van Deerlin, Vivianna" uniqKey="Van Deerlin V" first="Vivianna" last="Van Deerlin">Vivianna Van Deerlin</name>
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<name sortKey="Chen Plotkin, Alice S" sort="Chen Plotkin, Alice S" uniqKey="Chen Plotkin A" first="Alice S." last="Chen-Plotkin">Alice S. Chen-Plotkin</name>
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<nlm:aff id="A2">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
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<wicri:cityArea>Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
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<title xml:lang="en" level="a" type="main">
<italic>TMEM106B</italic>
is a genetic modifier of frontotemporal lobar degeneration with
<italic>C9orf72</italic>
hexanucleotide repeat expansions</title>
<author>
<name sortKey="Gallagher, Michael D" sort="Gallagher, Michael D" uniqKey="Gallagher M" first="Michael D." last="Gallagher">Michael D. Gallagher</name>
<affiliation wicri:level="2">
<nlm:aff id="A1">Cell & Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Cell & Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A2">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Suh, Eunran" sort="Suh, Eunran" uniqKey="Suh E" first="Eunran" last="Suh">Eunran Suh</name>
<affiliation wicri:level="2">
<nlm:aff id="A3">Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name>
<affiliation wicri:level="2">
<nlm:aff id="A2">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
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<author>
<name sortKey="Elman, Lauren" sort="Elman, Lauren" uniqKey="Elman L" first="Lauren" last="Elman">Lauren Elman</name>
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<nlm:aff id="A2">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Mccluskey, Leo" sort="Mccluskey, Leo" uniqKey="Mccluskey L" first="Leo" last="Mccluskey">Leo Mccluskey</name>
<affiliation wicri:level="2">
<nlm:aff id="A2">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C." last="Van Swieten">John C. Van Swieten</name>
<affiliation wicri:level="3">
<nlm:aff id="A4">Erasmus Medical Centre, s’Gravendijkwal 230, Rotterdam</nlm:aff>
<country>Pays-Bas</country>
<placeName>
<settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
<wicri:orgArea>Erasmus Medical Centre, s’Gravendijkwal 230</wicri:orgArea>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A5">Alzheimercenter Vumc, Boelelaan 1118, Amsterdam</nlm:aff>
<country>Pays-Bas</country>
<placeName>
<settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
<wicri:orgArea>Alzheimercenter Vumc, Boelelaan 1118</wicri:orgArea>
</affiliation>
</author>
<author>
<name sortKey="Al Sarraj, Safa" sort="Al Sarraj, Safa" uniqKey="Al Sarraj S" first="Safa" last="Al-Sarraj">Safa Al-Sarraj</name>
<affiliation wicri:level="3">
<nlm:aff id="A6">King’s College Hospital, London</nlm:aff>
<country>Royaume-Uni</country>
<placeName>
<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<wicri:orgArea>King’s College Hospital</wicri:orgArea>
</affiliation>
</author>
<author>
<name sortKey="Neumann, Manuela" sort="Neumann, Manuela" uniqKey="Neumann M" first="Manuela" last="Neumann">Manuela Neumann</name>
<affiliation wicri:level="1">
<nlm:aff id="A7">University of Tübingen, Calwerstr. 3, 72072 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>University of Tübingen, Calwerstr. 3, 72072 Tübingen</wicri:regionArea>
</affiliation>
<affiliation>
<nlm:aff id="A8">German Center for Neurodegenerative Diseases (DZNE)</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Gelpi, Ellen" sort="Gelpi, Ellen" uniqKey="Gelpi E" first="Ellen" last="Gelpi">Ellen Gelpi</name>
<affiliation wicri:level="1">
<nlm:aff id="A9">Neurological Tissue Bank of the Biobank-Hospital Clinic-Insitut d’Investigacions Biomèdiques August Pi i Sunyer, Facultad de Medicina, c/Casanova 143, planta 0, ala sur. 08036 Barcelona, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Neurological Tissue Bank of the Biobank-Hospital Clinic-Insitut d’Investigacions Biomèdiques August Pi i Sunyer, Facultad de Medicina, c/Casanova 143, planta 0, ala sur. 08036 Barcelona</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name>
<affiliation wicri:level="2">
<nlm:aff id="A10">Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Indiana</region>
</placeName>
<wicri:cityArea>Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name>
<affiliation wicri:level="1">
<nlm:aff id="A11">Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Halliday, Glenda" sort="Halliday, Glenda" uniqKey="Halliday G" first="Glenda" last="Halliday">Glenda Halliday</name>
<affiliation wicri:level="1">
<nlm:aff id="A12">Neuroscience Research Australia, Barker St, Randwick, NSW 2031, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Neuroscience Research Australia, Barker St, Randwick, NSW 2031</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A13">Faculty of Medicine, University of New South Wales, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Faculty of Medicine, University of New South Wales</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
<affiliation wicri:level="1">
<nlm:aff id="A14">Neurodegenerative Brain Disease Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, 2610 Antwerpen, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Neurodegenerative Brain Disease Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, 2610 Antwerpen</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Seilhean, Danielle" sort="Seilhean, Danielle" uniqKey="Seilhean D" first="Danielle" last="Seilhean">Danielle Seilhean</name>
<affiliation wicri:level="1">
<nlm:aff id="A15">University Pierre et Marie Curie (UPMC)-Sorbonne University, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Pierre et Marie Curie (UPMC)-Sorbonne University</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Shaw, Pamela J" sort="Shaw, Pamela J" uniqKey="Shaw P" first="Pamela J." last="Shaw">Pamela J. Shaw</name>
<affiliation wicri:level="1">
<nlm:aff id="A16">University of Sheffield, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>University of Sheffield</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Frosch, Matthew P" sort="Frosch, Matthew P" uniqKey="Frosch M" first="Matthew P." last="Frosch">Matthew P. Frosch</name>
<affiliation wicri:level="2">
<nlm:aff id="A17">Massachusetts Alzheimer’s Disease Research Center, Harvard Medical School, Boston, MA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Massachusetts Alzheimer’s Disease Research Center, Harvard Medical School, Boston</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name>
<affiliation wicri:level="2">
<nlm:aff id="A3">Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M. Y." last="Lee">Virginia M. Y. Lee</name>
<affiliation wicri:level="2">
<nlm:aff id="A3">Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Van Deerlin, Vivianna" sort="Van Deerlin, Vivianna" uniqKey="Van Deerlin V" first="Vivianna" last="Van Deerlin">Vivianna Van Deerlin</name>
<affiliation wicri:level="2">
<nlm:aff id="A3">Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Chen Plotkin, Alice S" sort="Chen Plotkin, Alice S" uniqKey="Chen Plotkin A" first="Alice S." last="Chen-Plotkin">Alice S. Chen-Plotkin</name>
<affiliation wicri:level="2">
<nlm:aff id="A2">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Acta neuropathologica</title>
<idno type="ISSN">0001-6322</idno>
<idno type="eISSN">1432-0533</idno>
<imprint>
<date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
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</fileDesc>
<profileDesc>
<textClass></textClass>
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</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p id="P1">Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (
<italic>C9orf72)</italic>
have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), and may be the most common genetic cause of both neurodegenerative diseases. Genetic variants at
<italic>TMEM106B</italic>
influence risk for the most common neuropathological subtype of FTLD, characterized by inclusions of TAR DNA binding protein of 43kDa (FTLD-TDP). Previous reports have shown that
<italic>TMEM106B</italic>
is a genetic modifier of FTLD-TDP caused by progranulin (
<italic>GRN</italic>
) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. Here we report that rs1990622 genotype affects age at death in a single-site discovery cohort of FTLD patients with
<italic>C9orf72</italic>
expansions (n=14), with the major allele correlated with later age at death (p=0.024). We replicate this modifier effect in a 30-site international neuropathological cohort of FTLD-TDP patients with
<italic>C9orf72</italic>
expansions (n=75), again finding that the major allele associates with later age at death (p=0.016), as well as later age at onset (p=0.019). In contrast,
<italic>TMEM106B</italic>
genotype does not affect age at onset or death in 241 FTLD-TDP cases negative for
<italic>GRN</italic>
mutations or
<italic>C9orf72</italic>
expansions. Thus,
<italic>TMEM106B</italic>
is a genetic modifier of FTLD with
<italic>C9orf72</italic>
expansions. Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in
<italic>C9orf72</italic>
expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.</p>
</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">0412041</journal-id>
<journal-id journal-id-type="pubmed-jr-id">133</journal-id>
<journal-id journal-id-type="nlm-ta">Acta Neuropathol</journal-id>
<journal-id journal-id-type="iso-abbrev">Acta Neuropathol.</journal-id>
<journal-title-group>
<journal-title>Acta neuropathologica</journal-title>
</journal-title-group>
<issn pub-type="ppub">0001-6322</issn>
<issn pub-type="epub">1432-0533</issn>
</journal-meta>
<article-meta>
<article-id pub-id-type="pmid">24442578</article-id>
<article-id pub-id-type="pmc">4003885</article-id>
<article-id pub-id-type="doi">10.1007/s00401-013-1239-x</article-id>
<article-id pub-id-type="manuscript">NIHMS568688</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Article</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>
<italic>TMEM106B</italic>
is a genetic modifier of frontotemporal lobar degeneration with
<italic>C9orf72</italic>
hexanucleotide repeat expansions</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Gallagher</surname>
<given-names>Michael D.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Suh</surname>
<given-names>Eunran</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Grossman</surname>
<given-names>Murray</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Elman</surname>
<given-names>Lauren</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>McCluskey</surname>
<given-names>Leo</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Van Swieten</surname>
<given-names>John C.</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Al-Sarraj</surname>
<given-names>Safa</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Neumann</surname>
<given-names>Manuela</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Gelpi</surname>
<given-names>Ellen</given-names>
</name>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Ghetti</surname>
<given-names>Bernardino</given-names>
</name>
<xref ref-type="aff" rid="A10">10</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rohrer</surname>
<given-names>Jonathan D.</given-names>
</name>
<xref ref-type="aff" rid="A11">11</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Halliday</surname>
<given-names>Glenda</given-names>
</name>
<xref ref-type="aff" rid="A12">12</xref>
<xref ref-type="aff" rid="A13">13</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Van Broeckhoven</surname>
<given-names>Christine</given-names>
</name>
<xref ref-type="aff" rid="A14">14</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Seilhean</surname>
<given-names>Danielle</given-names>
</name>
<xref ref-type="aff" rid="A15">15</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Shaw</surname>
<given-names>Pamela J.</given-names>
</name>
<xref ref-type="aff" rid="A16">16</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Frosch</surname>
<given-names>Matthew P.</given-names>
</name>
<xref ref-type="aff" rid="A17">17</xref>
</contrib>
<contrib contrib-type="author">
<collab>International Collaboration for Frontotemporal Lobar Degeneration</collab>
<xref rid="FN2" ref-type="author-notes"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Trojanowski</surname>
<given-names>John Q.</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lee</surname>
<given-names>Virginia M.Y.</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Van Deerlin</surname>
<given-names>Vivianna</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Chen-Plotkin</surname>
<given-names>Alice S.</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
</contrib-group>
<aff id="A1">
<label>1</label>
Cell & Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</aff>
<aff id="A2">
<label>2</label>
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</aff>
<aff id="A3">
<label>3</label>
Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA</aff>
<aff id="A4">
<label>4</label>
Erasmus Medical Centre, s’Gravendijkwal 230, Rotterdam</aff>
<aff id="A5">
<label>5</label>
Alzheimercenter Vumc, Boelelaan 1118, Amsterdam</aff>
<aff id="A6">
<label>6</label>
King’s College Hospital, London</aff>
<aff id="A7">
<label>7</label>
University of Tübingen, Calwerstr. 3, 72072 Tübingen, Germany</aff>
<aff id="A8">
<label>8</label>
German Center for Neurodegenerative Diseases (DZNE)</aff>
<aff id="A9">
<label>9</label>
Neurological Tissue Bank of the Biobank-Hospital Clinic-Insitut d’Investigacions Biomèdiques August Pi i Sunyer, Facultad de Medicina, c/Casanova 143, planta 0, ala sur. 08036 Barcelona, Spain</aff>
<aff id="A10">
<label>10</label>
Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN</aff>
<aff id="A11">
<label>11</label>
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK</aff>
<aff id="A12">
<label>12</label>
Neuroscience Research Australia, Barker St, Randwick, NSW 2031, Australia</aff>
<aff id="A13">
<label>13</label>
Faculty of Medicine, University of New South Wales, Australia</aff>
<aff id="A14">
<label>14</label>
Neurodegenerative Brain Disease Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, 2610 Antwerpen, Belgium</aff>
<aff id="A15">
<label>15</label>
University Pierre et Marie Curie (UPMC)-Sorbonne University, France</aff>
<aff id="A16">
<label>16</label>
University of Sheffield, UK</aff>
<aff id="A17">
<label>17</label>
Massachusetts Alzheimer’s Disease Research Center, Harvard Medical School, Boston, MA</aff>
<author-notes>
<corresp id="FN1">Correspondence to: Alice Chen-Plotkin, Department of Neurology, 3 W Gates, 3400 Spruce St, Philadelphia, PA 19104,
<email>chenplot@mail.med.upenn.edu</email>
, Telephone: 215-573-7193, Fax: 215-349-5579</corresp>
<fn id="FN2">
<label></label>
<p>see International Collaboration for Frontotemporal Lobar Degeneration section for full list of contributors</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted">
<day>8</day>
<month>4</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub">
<day>19</day>
<month>1</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="ppub">
<month>3</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release">
<day>29</day>
<month>4</month>
<year>2014</year>
</pub-date>
<volume>127</volume>
<issue>3</issue>
<fpage>407</fpage>
<lpage>418</lpage>
<pmc-comment>elocation-id from pubmed: 10.1007/s00401-013-1239-x</pmc-comment>
<abstract>
<p id="P1">Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (
<italic>C9orf72)</italic>
have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), and may be the most common genetic cause of both neurodegenerative diseases. Genetic variants at
<italic>TMEM106B</italic>
influence risk for the most common neuropathological subtype of FTLD, characterized by inclusions of TAR DNA binding protein of 43kDa (FTLD-TDP). Previous reports have shown that
<italic>TMEM106B</italic>
is a genetic modifier of FTLD-TDP caused by progranulin (
<italic>GRN</italic>
) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. Here we report that rs1990622 genotype affects age at death in a single-site discovery cohort of FTLD patients with
<italic>C9orf72</italic>
expansions (n=14), with the major allele correlated with later age at death (p=0.024). We replicate this modifier effect in a 30-site international neuropathological cohort of FTLD-TDP patients with
<italic>C9orf72</italic>
expansions (n=75), again finding that the major allele associates with later age at death (p=0.016), as well as later age at onset (p=0.019). In contrast,
<italic>TMEM106B</italic>
genotype does not affect age at onset or death in 241 FTLD-TDP cases negative for
<italic>GRN</italic>
mutations or
<italic>C9orf72</italic>
expansions. Thus,
<italic>TMEM106B</italic>
is a genetic modifier of FTLD with
<italic>C9orf72</italic>
expansions. Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in
<italic>C9orf72</italic>
expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.</p>
</abstract>
<kwd-group>
<kwd>TMEM106B</kwd>
<kwd>C9orf72</kwd>
<kwd>frontotemporal dementia</kwd>
<kwd>frontotemporal lobar degeneration</kwd>
<kwd>amyotrophic lateral sclerosis</kwd>
<kwd>genetic modifier</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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