title: The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
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.
authors.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.
authors.forename: Ziv
authors.initials: Z
authors.lastname: Gan-Or
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
authors.forename: Noreen
authors.initials: N
authors.lastname: Mohsin
authors.affiliation: Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
authors.forename: Simon L
authors.initials: SL
authors.lastname: Girard
authors.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.
authors.forename: Jacques Y
authors.initials: JY
authors.lastname: Montplaisir
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
authors.forename: Amirthagowri
authors.initials: A
authors.lastname: Ambalavanan
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Strong
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
authors.forename: Victoria
authors.initials: V
authors.lastname: Mallett
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
authors.forename: Sandra B
authors.initials: SB
authors.lastname: Laurent
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
authors.forename: Cynthia V
authors.initials: CV
authors.lastname: Bourassa
authors.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.
authors.forename: Michel
authors.initials: M
authors.lastname: Boivin
authors.affiliation: Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec, Canada.
authors.forename: Melanie
authors.initials: M
authors.lastname: Langlois
authors.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.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Arnulf
authors.affiliation: Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Birgit
authors.initials: B
authors.lastname: Högl
authors.affiliation: Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Birgit
authors.initials: B
authors.lastname: Frauscher
authors.affiliation: Department of Clinical Neurophysiology and Sleep Center, CHU Lille, University Lille North of France, Lille, France.
authors.forename: Christelle
authors.initials: C
authors.lastname: Monaca
authors.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.
authors.forename: Alex
authors.initials: A
authors.lastname: Desautels
authors.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.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Gagnon
authors.affiliation: Department of Neurology, Montreal General Hospital, Montréal, Quebec, Canada.
authors.forename: Ronald B
authors.initials: RB
authors.lastname: Postuma
authors.affiliation: Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.affiliation: Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac, CHU Montpellier, INSERM U1061, Montpellier, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Dauvilliers
authors.affiliation: Faculté de Médecine, Université Laval, CHU de Québec (Enfant-Jésus), Québec, Quebec, Canada.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupre
authors.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.
authors.forename: Roy N
authors.initials: RN
authors.lastname: Alcalay
authors.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.
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020187:REM Sleep Behavior Disorder / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D055815:Young Adult
chemical_list: D044102:Receptor, Melanocortin, Type 1
keywords: Genetics; MC1R; Melanoma; Parkinson disease