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7 septembre 2018
- handle: 10670/1.30a2qs
- doi: 10.1016/j.neurobiolaging.2016.03.029
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Genetics MC1R Melanoma Parkinson diseaseSujets proches
Paralysis agitans Shaking palsy Palsy, Shaking Parkinson disease Parkinsonism Melanocytic tumor Malignant melanomaCiter ce document
Ziv Gan-Or et al., « The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder », Papyrus : le dépôt institutionnel de l'Université de Montréal, ID : 10.1016/j.neurobiolaging.2016.03.029
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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 nonsignificant 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.