Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.
Identifieur interne : 000026 ( Main/Exploration ); précédent : 000025; suivant : 000027Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.
Auteurs : Anamika Giri [Allemagne] ; Kin Y. Mok [Royaume-Uni] ; Iris Jansen [Pays-Bas] ; Manu Sharma [Allemagne] ; Christelle Tesson [France] ; Graziella Mangone [France] ; Suzanne Lesage [France] ; José M. Bras [Royaume-Uni] ; Joshua M. Shulman [États-Unis] ; Una-Marie Sheerin [Royaume-Uni] ; M Nica Díez-Fairen [Espagne] ; Pau Pastor [Espagne] ; María José Martí [Espagne] ; Mario Ezquerra [Espagne] ; Eduardo Tolosa [Espagne] ; Leonor Correia-Guedes [Portugal] ; Joaquim Ferreira [Portugal] ; Najaf Amin [Pays-Bas] ; Cornelia M. Van Duijn [Pays-Bas] ; Jeroen Van Rooij [Pays-Bas] ; André G. Uitterlinden [Pays-Bas] ; Robert Kraaij [Pays-Bas] ; Michael Nalls [États-Unis] ; Javier Sim N-Sánchez [Allemagne]Source :
- Neurobiology of aging [ 1558-1497 ] ; 2017.
Abstract
Mutations in TMEM230 have recently been associated to Parkinson's disease (PD). To further understand the role of this gene in the Caucasian population, we interrogated our large repository of next generation sequencing data from unrelated PD cases and controls, as well as multiplex families with autosomal dominant PD. We identified 2 heterozygous missense variants in 2 unrelated PD cases and not in our control database (p.Y106H and p.I162V), and a heterozygous missense variant in 2 PD cases from the same family (p.A163T). However, data presented herein is not sufficient to support the role of any of these variants in PD pathology. A series of unified sequence kernel association tests also failed to show a cumulative effect of rare variation in this gene on the risk of PD in the general Caucasian population. Further evaluation of genetic data from different populations is needed to understand the genetic role of TMEM230 in PD etiology.
DOI: 10.1016/j.neurobiolaging.2016.10.004
PubMed: 27818000
Affiliations:
- Allemagne, Espagne, France, Pays-Bas, Portugal, Royaume-Uni, États-Unis
- Angleterre, Bade-Wurtemberg, Catalogne, District de Tübingen, Grand Londres, Hollande-Méridionale, Hollande-Septentrionale, Maryland, Texas, Île-de-France
- Amsterdam, Barcelone, Londres, Paris, Rotterdam, Tübingen
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Mok</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jansen, Iris" sort="Jansen, Iris" uniqKey="Jansen I" first="Iris" last="Jansen">Iris Jansen</name><affiliation wicri:level="3"><nlm:affiliation>German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Clinical Genetics, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation wicri:level="3"><nlm:affiliation>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, 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="Tesson, Christelle" sort="Tesson, Christelle" uniqKey="Tesson C" first="Christelle" last="Tesson">Christelle Tesson</name><affiliation wicri:level="3"><nlm:affiliation>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mangone, Graziella" sort="Mangone, Graziella" uniqKey="Mangone G" first="Graziella" last="Mangone">Graziella Mangone</name><affiliation wicri:level="3"><nlm:affiliation>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</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="3"><nlm:affiliation>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="José M" last="Bras">José M. Bras</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Shulman, Joshua M" sort="Shulman, Joshua M" uniqKey="Shulman J" first="Joshua M" last="Shulman">Joshua M. Shulman</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Neurology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Diez Fairen, M Nica" sort="Diez Fairen, M Nica" uniqKey="Diez Fairen M" first="M Nica" last="Díez-Fairen">M Nica Díez-Fairen</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="María José" last="Martí">María José Martí</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Correia Guedes, Leonor" sort="Correia Guedes, Leonor" uniqKey="Correia Guedes L" first="Leonor" last="Correia-Guedes">Leonor Correia-Guedes</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Ferreira, Joaquim" sort="Ferreira, Joaquim" uniqKey="Ferreira J" first="Joaquim" last="Ferreira">Joaquim Ferreira</name><affiliation wicri:level="1"><nlm:affiliation>Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Amin, Najaf" sort="Amin, Najaf" uniqKey="Amin N" first="Najaf" last="Amin">Najaf Amin</name><affiliation wicri:level="3"><nlm:affiliation>Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M" last="Van Duijn">Cornelia M. Van Duijn</name><affiliation wicri:level="3"><nlm:affiliation>Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Rooij, Jeroen" sort="Van Rooij, Jeroen" uniqKey="Van Rooij J" first="Jeroen" last="Van Rooij">Jeroen Van Rooij</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G" last="Uitterlinden">André G. Uitterlinden</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Kraaij, Robert" sort="Kraaij, Robert" uniqKey="Kraaij R" first="Robert" last="Kraaij">Robert Kraaij</name><affiliation wicri:level="3"><nlm:affiliation>Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Nalls, Michael" sort="Nalls, Michael" uniqKey="Nalls M" first="Michael" last="Nalls">Michael Nalls</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Sim N Sanchez, Javier" sort="Sim N Sanchez, Javier" uniqKey="Sim N Sanchez J" first="Javier" last="Sim N-Sánchez">Javier Sim N-Sánchez</name><affiliation wicri:level="3"><nlm:affiliation>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: javier.simon-sanchez@dzne.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), 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></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27818000</idno><idno type="pmid">27818000</idno><idno type="doi">10.1016/j.neurobiolaging.2016.10.004</idno><idno type="wicri:Area/PubMed/Corpus">000014</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000014</idno><idno type="wicri:Area/PubMed/Curation">000014</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000014</idno><idno type="wicri:Area/PubMed/Checkpoint">000014</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000014</idno><idno type="wicri:Area/Ncbi/Merge">001B50</idno><idno type="wicri:Area/Ncbi/Curation">001B50</idno><idno type="wicri:Area/Ncbi/Checkpoint">001B50</idno><idno type="wicri:Area/Main/Merge">000026</idno><idno type="wicri:Area/Main/Curation">000026</idno><idno type="wicri:Area/Main/Exploration">000026</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.</title><author><name sortKey="Giri, Anamika" sort="Giri, Anamika" uniqKey="Giri A" first="Anamika" last="Giri">Anamika Giri</name><affiliation wicri:level="3"><nlm:affiliation>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), 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="Mok, Kin Y" sort="Mok, Kin Y" uniqKey="Mok K" first="Kin Y" last="Mok">Kin Y. Mok</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jansen, Iris" sort="Jansen, Iris" uniqKey="Jansen I" first="Iris" last="Jansen">Iris Jansen</name><affiliation wicri:level="3"><nlm:affiliation>German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Clinical Genetics, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation wicri:level="3"><nlm:affiliation>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, 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="Tesson, Christelle" sort="Tesson, Christelle" uniqKey="Tesson C" first="Christelle" last="Tesson">Christelle Tesson</name><affiliation wicri:level="3"><nlm:affiliation>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mangone, Graziella" sort="Mangone, Graziella" uniqKey="Mangone G" first="Graziella" last="Mangone">Graziella Mangone</name><affiliation wicri:level="3"><nlm:affiliation>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</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="3"><nlm:affiliation>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="José M" last="Bras">José M. Bras</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Shulman, Joshua M" sort="Shulman, Joshua M" uniqKey="Shulman J" first="Joshua M" last="Shulman">Joshua M. Shulman</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Neurology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Diez Fairen, M Nica" sort="Diez Fairen, M Nica" uniqKey="Diez Fairen M" first="M Nica" last="Díez-Fairen">M Nica Díez-Fairen</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="María José" last="Martí">María José Martí</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="3"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Correia Guedes, Leonor" sort="Correia Guedes, Leonor" uniqKey="Correia Guedes L" first="Leonor" last="Correia-Guedes">Leonor Correia-Guedes</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Ferreira, Joaquim" sort="Ferreira, Joaquim" uniqKey="Ferreira J" first="Joaquim" last="Ferreira">Joaquim Ferreira</name><affiliation wicri:level="1"><nlm:affiliation>Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Amin, Najaf" sort="Amin, Najaf" uniqKey="Amin N" first="Najaf" last="Amin">Najaf Amin</name><affiliation wicri:level="3"><nlm:affiliation>Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M" last="Van Duijn">Cornelia M. Van Duijn</name><affiliation wicri:level="3"><nlm:affiliation>Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Rooij, Jeroen" sort="Van Rooij, Jeroen" uniqKey="Van Rooij J" first="Jeroen" last="Van Rooij">Jeroen Van Rooij</name><affiliation wicri:level="3"><nlm:affiliation>Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G" last="Uitterlinden">André G. Uitterlinden</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Kraaij, Robert" sort="Kraaij, Robert" uniqKey="Kraaij R" first="Robert" last="Kraaij">Robert Kraaij</name><affiliation wicri:level="3"><nlm:affiliation>Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Nalls, Michael" sort="Nalls, Michael" uniqKey="Nalls M" first="Michael" last="Nalls">Michael Nalls</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Sim N Sanchez, Javier" sort="Sim N Sanchez, Javier" uniqKey="Sim N Sanchez J" first="Javier" last="Sim N-Sánchez">Javier Sim N-Sánchez</name><affiliation wicri:level="3"><nlm:affiliation>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: javier.simon-sanchez@dzne.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), 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></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in TMEM230 have recently been associated to Parkinson's disease (PD). To further understand the role of this gene in the Caucasian population, we interrogated our large repository of next generation sequencing data from unrelated PD cases and controls, as well as multiplex families with autosomal dominant PD. We identified 2 heterozygous missense variants in 2 unrelated PD cases and not in our control database (p.Y106H and p.I162V), and a heterozygous missense variant in 2 PD cases from the same family (p.A163T). However, data presented herein is not sufficient to support the role of any of these variants in PD pathology. A series of unified sequence kernel association tests also failed to show a cumulative effect of rare variation in this gene on the risk of PD in the general Caucasian population. Further evaluation of genetic data from different populations is needed to understand the genetic role of TMEM230 in PD etiology.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Espagne</li><li>France</li><li>Pays-Bas</li><li>Portugal</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>Catalogne</li><li>District de Tübingen</li><li>Grand Londres</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Maryland</li><li>Texas</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Barcelone</li><li>Londres</li><li>Paris</li><li>Rotterdam</li><li>Tübingen</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Giri, Anamika" sort="Giri, Anamika" uniqKey="Giri A" first="Anamika" last="Giri">Anamika Giri</name></region><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><name sortKey="Sim N Sanchez, Javier" sort="Sim N Sanchez, Javier" uniqKey="Sim N Sanchez J" first="Javier" last="Sim N-Sánchez">Javier Sim N-Sánchez</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mok, Kin Y" sort="Mok, Kin Y" uniqKey="Mok K" first="Kin Y" last="Mok">Kin Y. Mok</name></region><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="José M" last="Bras">José M. Bras</name><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Jansen, Iris" sort="Jansen, Iris" uniqKey="Jansen I" first="Iris" last="Jansen">Iris Jansen</name></region><name sortKey="Amin, Najaf" sort="Amin, Najaf" uniqKey="Amin N" first="Najaf" last="Amin">Najaf Amin</name><name sortKey="Kraaij, Robert" sort="Kraaij, Robert" uniqKey="Kraaij R" first="Robert" last="Kraaij">Robert Kraaij</name><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G" last="Uitterlinden">André G. Uitterlinden</name><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M" last="Van Duijn">Cornelia M. Van Duijn</name><name sortKey="Van Rooij, Jeroen" sort="Van Rooij, Jeroen" uniqKey="Van Rooij J" first="Jeroen" last="Van Rooij">Jeroen Van Rooij</name></country><country name="France"><region name="Île-de-France"><name sortKey="Tesson, Christelle" sort="Tesson, Christelle" uniqKey="Tesson C" first="Christelle" last="Tesson">Christelle Tesson</name></region><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><name sortKey="Mangone, Graziella" sort="Mangone, Graziella" uniqKey="Mangone G" first="Graziella" last="Mangone">Graziella Mangone</name></country><country name="États-Unis"><region name="Texas"><name sortKey="Shulman, Joshua M" sort="Shulman, Joshua M" uniqKey="Shulman J" first="Joshua M" last="Shulman">Joshua M. Shulman</name></region><name sortKey="Nalls, Michael" sort="Nalls, Michael" uniqKey="Nalls M" first="Michael" last="Nalls">Michael Nalls</name></country><country name="Espagne"><region name="Catalogne"><name sortKey="Diez Fairen, M Nica" sort="Diez Fairen, M Nica" uniqKey="Diez Fairen M" first="M Nica" last="Díez-Fairen">M Nica Díez-Fairen</name></region><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="María José" last="Martí">María José Martí</name><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></country><country name="Portugal"><noRegion><name sortKey="Correia Guedes, Leonor" sort="Correia Guedes, Leonor" uniqKey="Correia Guedes L" first="Leonor" last="Correia-Guedes">Leonor Correia-Guedes</name></noRegion><name sortKey="Ferreira, Joaquim" sort="Ferreira, Joaquim" uniqKey="Ferreira J" first="Joaquim" last="Ferreira">Joaquim Ferreira</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.
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