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

Neurobiol Aging. 2016 Jul;43:180.e7-180.e13. doi: 10.1016/j.neurobiolaging.2016.03.029. Epub 2016 Apr 6.

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.

Keywords: Genetics; MC1R; Melanoma; Parkinson disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation*
  • Humans
  • Male
  • Melanoma / genetics*
  • Middle Aged
  • Parkinson Disease / genetics*
  • REM Sleep Behavior Disorder / genetics*
  • Receptor, Melanocortin, Type 1 / genetics*
  • Young Adult

Substances

  • Receptor, Melanocortin, Type 1