The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
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DOI：
10.1016/j.neurobiolaging.2016.03.029
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发表时间：
2016-07
影响因子：
4.2
通讯作者：
Rouleau GA
中科院分区：
文献类型：
--
作者：
Gan-Or 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 JF;Postuma RB;Dion PA;Dauvilliers Y;Dupre N;Alcalay RN;Rouleau GA
MC1R基因被认为与帕金森病（PD）和黑色素瘤有关，研究人员对来自纽约的PD患者（n=539）和对照（n=265）、PD患者（n=551）、快速眼动睡眠行为障碍（RBD）患者（n=351）和对照（n=956）进行了测序。共鉴定出68个MC1R变异，其中7个为常见变异，频率为>0.01。在不同的回归模型中，没有任何常见变异与PD或RBD相关。在固定效应模型的荟萃分析中，p.R160W变异与PD风险增加相关（OR=1.22, 95%CI 1.02-1.47, p=0.03），但存在显著异质性（p=0.048）。排除一项引入异质性的研究导致无显著相关性（OR=1.11, 95%CI 0.92-1.35, p=0.27，异质性p=0.57）。罕见变异在患者和对照组中有相似的频率（分别为10.54%和10.15%,p=0.75），并且没有发现携带一个以上MC1R变异的累积效应。目前的研究不支持MC1R p.R160W和其他变异在PD或RBD易感性中的作用。
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 (OR=1.22, 95%CI 1.02-1.47, p=0.03) but with significant heterogeneity (p=0.048). Removing one study that introduced the heterogeneity resulted in non-significant association (OR=1.11, 95%CI 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 current study does not support a role for the MC1R p.R160W and other variants in susceptibility for PD or RBD.