Common MC1R Variants and Parkinson Disease Progression

Are common melanocortin 1 receptor (MC1R) loss-of-function variants associated with accelerated progression in Parkinson disease (PD)? In this cohort study of 383 participants with sporadic PD and 12 years of follow-up, MC1R loss-of-function carriers exhibited faster motor decline than noncarriers, and these findings were independently replicated in a pooled cohort of 587 participants from 3 clinical trials. In addition, MC1R loss-of-function carriers showed an increased risk of phenoconversion to PD in a prodromal cohort. These findings suggest that MC1R loss-of-function variants may define a large and readily genotypable patient subgroup with accelerated motor decline.

Corresponding Author: Xiqun Chen, MD, PhD, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129 (xchen17@mgh.harvard.edu).

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