The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
Identifieur interne : 000212 ( PubMed/Curation ); précédent : 000211; suivant : 000213The 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
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Laurent</name><affiliation wicri:level="1"><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></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="1"><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></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></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></affiliation></author><author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Frauscher, Birgit" sort="Frauscher, Birgit" uniqKey="Frauscher B" first="Birgit" last="Frauscher">Birgit Frauscher</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Monaca, Christelle" sort="Monaca, Christelle" uniqKey="Monaca C" first="Christelle" last="Monaca">Christelle Monaca</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Desautels, Alex" sort="Desautels, Alex" uniqKey="Desautels A" first="Alex" last="Desautels">Alex Desautels</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 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></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="1"><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></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></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="1"><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></affiliation></author><author><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name><affiliation wicri:level="1"><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></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></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="1"><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></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="1"><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></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></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="1"><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></affiliation></author><author><name sortKey="Mohsin, Noreen" sort="Mohsin, Noreen" uniqKey="Mohsin N" first="Noreen" last="Mohsin">Noreen Mohsin</name><affiliation wicri:level="1"><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></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="1"><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></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></affiliation></author><author><name sortKey="Ambalavanan, Amirthagowri" sort="Ambalavanan, Amirthagowri" uniqKey="Ambalavanan A" first="Amirthagowri" last="Ambalavanan">Amirthagowri Ambalavanan</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Strong, Stephanie" sort="Strong, Stephanie" uniqKey="Strong S" first="Stephanie" last="Strong">Stephanie Strong</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Mallett, Victoria" sort="Mallett, Victoria" uniqKey="Mallett V" first="Victoria" last="Mallett">Victoria Mallett</name><affiliation wicri:level="1"><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></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="1"><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></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="1"><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></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></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></affiliation></author><author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Frauscher, Birgit" sort="Frauscher, Birgit" uniqKey="Frauscher B" first="Birgit" last="Frauscher">Birgit Frauscher</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Monaca, Christelle" sort="Monaca, Christelle" uniqKey="Monaca C" first="Christelle" last="Monaca">Christelle Monaca</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Desautels, Alex" sort="Desautels, Alex" uniqKey="Desautels A" first="Alex" last="Desautels">Alex Desautels</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 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></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="1"><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></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></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="1"><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></affiliation></author><author><name sortKey="Dauvilliers, Yves" sort="Dauvilliers, Yves" uniqKey="Dauvilliers Y" first="Yves" last="Dauvilliers">Yves Dauvilliers</name><affiliation wicri:level="1"><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></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></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="1"><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></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="1"><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></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><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27131830</PMID><DateCreated><Year>2016</Year><Month>06</Month><Day>03</Day></DateCreated><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1558-1497</ISSN><JournalIssue CitedMedium="Internet"><Volume>43</Volume><PubDate><Year>2016</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Neurobiology of aging</Title><ISOAbbreviation>Neurobiol. Aging</ISOAbbreviation></Journal><ArticleTitle>The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.</ArticleTitle><Pagination><MedlinePgn>180.e7-180.e13</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.neurobiolaging.2016.03.029</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S0197-4580(16)30021-5</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>Copyright © 2016 Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gan-Or</LastName><ForeName>Ziv</ForeName><Initials>Z</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mohsin</LastName><ForeName>Noreen</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Girard</LastName><ForeName>Simon L</ForeName><Initials>SL</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, McGill University, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Montplaisir</LastName><ForeName>Jacques Y</ForeName><Initials>JY</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ambalavanan</LastName><ForeName>Amirthagowri</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Strong</LastName><ForeName>Stephanie</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mallett</LastName><ForeName>Victoria</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laurent</LastName><ForeName>Sandra B</ForeName><Initials>SB</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bourassa</LastName><ForeName>Cynthia V</ForeName><Initials>CV</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boivin</LastName><ForeName>Michel</ForeName><Initials>M</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Langlois</LastName><ForeName>Melanie</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Arnulf</LastName><ForeName>Isabelle</ForeName><Initials>I</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Högl</LastName><ForeName>Birgit</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frauscher</LastName><ForeName>Birgit</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Monaca</LastName><ForeName>Christelle</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Clinical Neurophysiology and Sleep Center, CHU Lille, University Lille North of France, Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Desautels</LastName><ForeName>Alex</ForeName><Initials>A</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gagnon</LastName><ForeName>Jean-François</ForeName><Initials>JF</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Postuma</LastName><ForeName>Ronald B</ForeName><Initials>RB</Initials><AffiliationInfo><Affiliation>Department of Neurology, Montreal General Hospital, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dion</LastName><ForeName>Patrick A</ForeName><Initials>PA</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dauvilliers</LastName><ForeName>Yves</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dupre</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Alcalay</LastName><ForeName>Roy N</ForeName><Initials>RN</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rouleau</LastName><ForeName>Guy A</ForeName><Initials>GA</Initials><AffiliationInfo><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. 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