The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
Identifieur interne : 000019 ( France/Analysis ); précédent : 000018; suivant : 000020The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
Auteurs : Ziv Gan-Or [Canada] ; Noreen Mohsin [Canada] ; Simon L. Girard [Canada] ; Jacques Y. Montplaisir [Canada] ; Amirthagowri Ambalavanan [Canada] ; Stephanie Strong [Canada] ; Victoria Mallett [Canada] ; Sandra B. Laurent [Canada] ; Cynthia V. Bourassa [Canada] ; Michel Boivin [Russie] ; Melanie Langlois [Canada] ; Isabelle Arnulf [France] ; Birgit Högl [Autriche] ; Birgit Frauscher [Autriche] ; Christelle Monaca [France] ; Alex Desautels [Canada] ; Jean-François Gagnon [Canada] ; Ronald B. Postuma [Canada] ; Patrick A. Dion [Canada] ; Yves Dauvilliers [France] ; Nicolas Dupre [Canada] ; Roy N. Alcalay [États-Unis] ; Guy A. Rouleau [Canada]Source :
- Neurobiology of aging [ 1558-1497 ] ; 2016.
Abstract
The MC1R gene, suggested to be involved in Parkinson disease (PD) and melanoma, was sequenced in PD patients (n = 539) and controls (n = 265) from New York, and PD patients (n = 551), rapid eye movement sleep behavior disorder (RBD) patients (n = 351), and controls (n = 956) of European ancestry. Sixty-eight MC1R variants were identified, including 7 common variants with frequency > 0.01. None of the common variants was associated with PD or RBD in the different regression models. In a meta-analysis with fixed-effect model, the p.R160W variant was associated with an increased risk for PD (odds ratio = 1.22, 95% confidence interval = 1.02-1.47, p = 0.03) but with significant heterogeneity (p = 0.048). Removing one study that introduced the heterogeneity resulted in nonsignificant association (odds ratio = 1.11, 95% confidence interval, 0.92-1.35, p = 0.27, heterogeneity p = 0.57). Rare variants had similar frequencies in patients and controls (10.54% and 10.15%, respectively, p = 0.75), and no cumulative effect of carrying more than one MC1R variant was found. The present study does not support a role for the MC1R p.R160W and other variants in susceptibility for PD or RBD.
DOI: 10.1016/j.neurobiolaging.2016.03.029
PubMed: 27131830
Affiliations:
- Autriche, Canada, France, Russie, États-Unis
- Hauts-de-France, Languedoc-Roussillon, Nord-Pas-de-Calais, Occitanie (région administrative), Québec, Tyrol (Land), État de New York, Île-de-France
- Innsbruck, Lille, Montpellier, Montréal, New York, Paris
- Université Columbia, Université McGill, Université de médecine d'Innsbruck, Université du Québec à Montréal
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pubmed:27131830Le document en format XML
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Department of Neurosciences, Université de Montréal, Montréal, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Neurosciences, Université de Montréal, Montréal</wicri:regionArea><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Gagnon, Jean Francois" sort="Gagnon, Jean Francois" uniqKey="Gagnon J" first="Jean-François" last="Gagnon">Jean-François Gagnon</name><affiliation wicri:level="4"><nlm:affiliation>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Département de Psychologie, Université du Québec à Montréal, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; 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Postuma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Montreal General Hospital, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurology, Montreal General Hospital, Montréal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name><affiliation wicri:level="3"><nlm:affiliation>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupre">Nicolas Dupre</name><affiliation wicri:level="1"><nlm:affiliation>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address: guy.rouleau@mcgill.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27131830</idno><idno type="pmid">27131830</idno><idno type="doi">10.1016/j.neurobiolaging.2016.03.029</idno><idno type="wicri:Area/PubMed/Corpus">000212</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000212</idno><idno type="wicri:Area/PubMed/Curation">000212</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000212</idno><idno type="wicri:Area/PubMed/Checkpoint">000212</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000212</idno><idno type="wicri:Area/Ncbi/Merge">001F60</idno><idno type="wicri:Area/Ncbi/Curation">001F60</idno><idno type="wicri:Area/Ncbi/Checkpoint">001F60</idno><idno type="wicri:Area/Main/Merge">000161</idno><idno type="wicri:Area/Main/Curation">000161</idno><idno type="wicri:Area/Main/Exploration">000161</idno><idno type="wicri:Area/France/Extraction">000019</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.</title><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address: ziv.gan-or@mail.mcgill.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Mohsin, Noreen" sort="Mohsin, Noreen" uniqKey="Mohsin N" first="Noreen" last="Mohsin">Noreen Mohsin</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Girard, Simon L" sort="Girard, Simon L" uniqKey="Girard S" first="Simon L" last="Girard">Simon L. Girard</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Montplaisir, Jacques Y" sort="Montplaisir, Jacques Y" uniqKey="Montplaisir J" first="Jacques Y" last="Montplaisir">Jacques Y. Montplaisir</name><affiliation wicri:level="1"><nlm:affiliation>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Psychiatry, Université de Montréal, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Psychiatry, Université de Montréal, Montréal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Ambalavanan, Amirthagowri" sort="Ambalavanan, Amirthagowri" uniqKey="Ambalavanan A" first="Amirthagowri" last="Ambalavanan">Amirthagowri Ambalavanan</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Strong, Stephanie" sort="Strong, Stephanie" uniqKey="Strong S" first="Stephanie" last="Strong">Stephanie Strong</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Mallett, Victoria" sort="Mallett, Victoria" uniqKey="Mallett V" first="Victoria" last="Mallett">Victoria Mallett</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Laurent, Sandra B" sort="Laurent, Sandra B" uniqKey="Laurent S" first="Sandra B" last="Laurent">Sandra B. Laurent</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Bourassa, Cynthia V" sort="Bourassa, Cynthia V" uniqKey="Bourassa C" first="Cynthia V" last="Bourassa">Cynthia V. Bourassa</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Boivin, Michel" sort="Boivin, Michel" uniqKey="Boivin M" first="Michel" last="Boivin">Michel Boivin</name><affiliation wicri:level="1"><nlm:affiliation>GRIP, École de Psychologie, Université Laval, Québec City, Quebec, Canada; Institute of Genetics, Neurobiological and Social Foundations of Child Development, Tomsk State University, Tomsk, Russia.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>GRIP, École de Psychologie, Université Laval, Québec City, Quebec, Canada; Institute of Genetics, Neurobiological and Social Foundations of Child Development, Tomsk State University, Tomsk</wicri:regionArea><wicri:noRegion>Tomsk</wicri:noRegion></affiliation></author><author><name sortKey="Langlois, Melanie" sort="Langlois, Melanie" uniqKey="Langlois M" first="Melanie" last="Langlois">Melanie Langlois</name><affiliation wicri:level="1"><nlm:affiliation>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name><affiliation wicri:level="3"><nlm:affiliation>Sleep Disorders Unit, Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière and Sorbonne Universities, UPMC Paris 6 univ, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sleep Disorders Unit, Pitié Salpêtrière Hospital, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière and Sorbonne Universities, UPMC Paris 6 univ, 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="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name><affiliation wicri:level="4"><nlm:affiliation>Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck</wicri:regionArea><orgName type="university">Université de médecine d'Innsbruck</orgName><placeName><settlement type="city">Innsbruck</settlement><region nuts="2" type="region">Tyrol (Land)</region></placeName></affiliation></author><author><name sortKey="Frauscher, Birgit" sort="Frauscher, Birgit" uniqKey="Frauscher B" first="Birgit" last="Frauscher">Birgit Frauscher</name><affiliation wicri:level="4"><nlm:affiliation>Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck</wicri:regionArea><orgName type="university">Université de médecine d'Innsbruck</orgName><placeName><settlement type="city">Innsbruck</settlement><region nuts="2" type="region">Tyrol (Land)</region></placeName></affiliation></author><author><name sortKey="Monaca, Christelle" sort="Monaca, Christelle" uniqKey="Monaca C" first="Christelle" last="Monaca">Christelle Monaca</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Neurophysiology and Sleep Center, CHU Lille, University Lille North of France, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Clinical Neurophysiology and Sleep Center, CHU Lille, University Lille North of France, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Desautels, Alex" sort="Desautels, Alex" uniqKey="Desautels A" first="Alex" last="Desautels">Alex Desautels</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Neurosciences, Université de Montréal, Montréal, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Department of Neurosciences, Université de Montréal, Montréal</wicri:regionArea><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Gagnon, Jean Francois" sort="Gagnon, Jean Francois" uniqKey="Gagnon J" first="Jean-François" last="Gagnon">Jean-François Gagnon</name><affiliation wicri:level="4"><nlm:affiliation>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Département de Psychologie, Université du Québec à Montréal, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-Cœur de Montréal, Montréal, Quebec, Canada; Département de Psychologie, Université du Québec à Montréal, Montréal, Quebec</wicri:regionArea><orgName type="university">Université du Québec à Montréal</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Postuma, Ronald B" sort="Postuma, Ronald B" uniqKey="Postuma R" first="Ronald B" last="Postuma">Ronald B. Postuma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Montreal General Hospital, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurology, Montreal General Hospital, Montréal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name><affiliation wicri:level="3"><nlm:affiliation>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupre">Nicolas Dupre</name><affiliation wicri:level="1"><nlm:affiliation>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address: guy.rouleau@mcgill.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The MC1R gene, suggested to be involved in Parkinson disease (PD) and melanoma, was sequenced in PD patients (n = 539) and controls (n = 265) from New York, and PD patients (n = 551), rapid eye movement sleep behavior disorder (RBD) patients (n = 351), and controls (n = 956) of European ancestry. Sixty-eight MC1R variants were identified, including 7 common variants with frequency > 0.01. None of the common variants was associated with PD or RBD in the different regression models. In a meta-analysis with fixed-effect model, the p.R160W variant was associated with an increased risk for PD (odds ratio = 1.22, 95% confidence interval = 1.02-1.47, p = 0.03) but with significant heterogeneity (p = 0.048). Removing one study that introduced the heterogeneity resulted in nonsignificant association (odds ratio = 1.11, 95% confidence interval, 0.92-1.35, p = 0.27, heterogeneity p = 0.57). Rare variants had similar frequencies in patients and controls (10.54% and 10.15%, respectively, p = 0.75), and no cumulative effect of carrying more than one MC1R variant was found. The present study does not support a role for the MC1R p.R160W and other variants in susceptibility for PD or RBD.</div></front></TEI><affiliations><list><country><li>Autriche</li><li>Canada</li><li>France</li><li>Russie</li><li>États-Unis</li></country><region><li>Hauts-de-France</li><li>Languedoc-Roussillon</li><li>Nord-Pas-de-Calais</li><li>Occitanie (région administrative)</li><li>Québec</li><li>Tyrol (Land)</li><li>État de New York</li><li>Île-de-France</li></region><settlement><li>Innsbruck</li><li>Lille</li><li>Montpellier</li><li>Montréal</li><li>New York</li><li>Paris</li></settlement><orgName><li>Université Columbia</li><li>Université McGill</li><li>Université de médecine d'Innsbruck</li><li>Université du Québec à Montréal</li></orgName></list><tree><country name="Canada"><region name="Québec"><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name></region><name sortKey="Ambalavanan, Amirthagowri" sort="Ambalavanan, Amirthagowri" uniqKey="Ambalavanan A" first="Amirthagowri" last="Ambalavanan">Amirthagowri Ambalavanan</name><name sortKey="Bourassa, Cynthia V" sort="Bourassa, Cynthia V" uniqKey="Bourassa C" first="Cynthia V" last="Bourassa">Cynthia V. Bourassa</name><name sortKey="Desautels, Alex" sort="Desautels, Alex" uniqKey="Desautels A" first="Alex" last="Desautels">Alex Desautels</name><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupre">Nicolas Dupre</name><name sortKey="Gagnon, Jean Francois" sort="Gagnon, Jean Francois" uniqKey="Gagnon J" first="Jean-François" last="Gagnon">Jean-François Gagnon</name><name sortKey="Girard, Simon L" sort="Girard, Simon L" uniqKey="Girard S" first="Simon L" last="Girard">Simon L. Girard</name><name sortKey="Langlois, Melanie" sort="Langlois, Melanie" uniqKey="Langlois M" first="Melanie" last="Langlois">Melanie Langlois</name><name sortKey="Laurent, Sandra B" sort="Laurent, Sandra B" uniqKey="Laurent S" first="Sandra B" last="Laurent">Sandra B. Laurent</name><name sortKey="Mallett, Victoria" sort="Mallett, Victoria" uniqKey="Mallett V" first="Victoria" last="Mallett">Victoria Mallett</name><name sortKey="Mohsin, Noreen" sort="Mohsin, Noreen" uniqKey="Mohsin N" first="Noreen" last="Mohsin">Noreen Mohsin</name><name sortKey="Montplaisir, Jacques Y" sort="Montplaisir, Jacques Y" uniqKey="Montplaisir J" first="Jacques Y" last="Montplaisir">Jacques Y. Montplaisir</name><name sortKey="Postuma, Ronald B" sort="Postuma, Ronald B" uniqKey="Postuma R" first="Ronald B" last="Postuma">Ronald B. Postuma</name><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><name sortKey="Strong, Stephanie" sort="Strong, Stephanie" uniqKey="Strong S" first="Stephanie" last="Strong">Stephanie Strong</name></country><country name="Russie"><noRegion><name sortKey="Boivin, Michel" sort="Boivin, Michel" uniqKey="Boivin M" first="Michel" last="Boivin">Michel Boivin</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name></region><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name><name sortKey="Monaca, Christelle" sort="Monaca, Christelle" uniqKey="Monaca C" first="Christelle" last="Monaca">Christelle Monaca</name></country><country name="Autriche"><region name="Tyrol (Land)"><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name></region><name sortKey="Frauscher, Birgit" sort="Frauscher, Birgit" uniqKey="Frauscher B" first="Birgit" last="Frauscher">Birgit Frauscher</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. 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