<i>MC1R</i> loss-of-function is associated with accelerated Parkinson's disease motor decline.

ABSTRACT:

Background

Melanocortin 1 receptor (MC1R) is a key regulator of pigmentation. Previous studies have linked MC1R loss-of-function variants to increased risk for Parkinson's disease (PD); however, whether they are associated with PD progression remains unknown. Using data from the Parkinson's Progression Markers Initiative (PPMI) cohort, we aimed to test whether MC1R loss-of-function variants, especially those previously associated with an increased risk of PD, are associated with PD progression and phenoconversion.

Methods

We analyzed PD progression in 802 PPMI participants (n=185 sporadic PD, 220 MC1R PD (139 heterozygotes, 64 compound heterozygotes, 17 homozygotes), 84 LRRK2 PD, 43 GBA PD, 187 MC1R + LRRK2 PD, and 83 MC1R

SUBMITTER: Schumacher JG 

PROVIDER: S-EPMC12772648 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature