The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

TitleThe role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
Publication TypeJournal Article
Year of Publication2016
AuteursGan-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
JournalNeurobiol Aging
Date Published2016 Jul
KeywordsAdult, 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

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.

Alternate JournalNeurobiol. Aging
PubMed ID27131830
PubMed Central IDPMC4892956
Grant ListK02 NS080915 / NS / NINDS NIH HHS / United States
UL1 TR000040 / TR / NCATS NIH HHS / United States