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

Authors: Gan-Or, Ziv; Mohsin, Noreen; Girard, Simon L.; Montplaisir, Jacques Y.; Ambalavanan, Amirthagowri; Strong, Stephanie; Mallett, Victoria; Laurent, Sandra B.; Bourassa, Cynthia V.; Boivin, MichelLanglois, Mélanie; Arnulf, Isabelle; Högl, Birgit; Frauscher, Birgit; Monaca, Christelle; Desautels, Alex; Gagnon, Jean-François; Postuma, Ronald B.; Dion, Patrick A.; Dauvilliers, Yves; Dupré, Nicolas; Alcalay, Roy N.; Rouleau, Guy A.
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.
Document Type: Article de recherche
Issue Date: 5 April 2016
Open Access Date: 5 April 2017
Document version: AM
This document was published in: Neurobiology of Aging, Vol. 43, 180.e7–180.e13 (2016)
Alternative version: 10.1016/j.neurobiolaging.2016.03.029
Collection:Articles publiés dans des revues avec comité de lecture

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