Title | The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Auteurs | Gan-Or, iv, Z, Mohsin, N, Girard, SL, Montplaisir, JY, Ambalavanan, A, Strong, S, Mallett, V, Laurent, SB, Bourassa, CV, Boivin, M, Langlois, M, Arnulf, I, Högl, B, Frauscher, B, Monaca, C, Desautels, A, Gagnon, J-F, Postuma, RB, Dion, PA, Dauvilliers, Y, Dupré, N, Alcalay, RN, Rouleau, GA |
Journal | Neurobiol Aging |
Volume | 43 |
Pagination | 180.e7-180.e13 |
Date Published | 2016 Jul |
ISSN | 1558-1497 |
Keywords | Adult, Aged, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Melanoma, Middle Aged, Parkinson Disease, Receptor, Melanocortin, Type 1, REM Sleep Behavior Disorder, Young Adult |
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 |
Alternate Journal | Neurobiol. Aging |
PubMed ID | 27131830 |
PubMed Central ID | PMC4892956 |
Grant List | K02 NS080915 / NS / NINDS NIH HHS / United States UL1 TR000040 / TR / NCATS NIH HHS / United States |