Common MC1R Variants and Parkinson Disease Progression - Takeaways - MDSpire
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Common MC1R Genetic Variants and the Course of Parkinson Disease

  • By

  • Jackson G. Schumacher

  • Xinyuan Zhang

  • Jian Wang

  • Johannes M. Dijkstra

  • Hirohisa Watanabe

  • Xiang Gao

  • Marianna Cortese

  • Eric A. Macklin

  • Michael A. Schwarzschild

  • Xiqun Chen

  • October 1, 2026

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  • 1

    The study examined whether MC1R loss-of-function variants were associated with Parkinson disease progression using longitudinal PPMI data and an independent replication cohort.

  • 2

    MC1R loss-of-function variants reduce receptor function and were classified by penetrance as high-impact R variants or lower-impact r variants.

  • 3

    The primary analysis included 383 participants with sporadic Parkinson disease, including 231 MC1R variant carriers and 152 noncarriers.

  • 4

    Motor progression was assessed with MDS-UPDRS Part III over as many as 12 years, with off-state and on-state assessments analyzed separately.

  • 5

    Linear mixed-effects models estimated annual changes in motor, nonmotor, cognitive, autonomic, sleep, mood, and dopamine transporter imaging measures.

Original Source(s)

Common MC1R Variants and Parkinson Disease Progression

  • by Jackson G. Schumacher, Xinyuan Zhang, Jian Wang, Johannes M. Dijkstra, Hirohisa Watanabe, Xiang Gao, Marianna Cortese, Eric A. Macklin, Michael A. Schwarzschild, Xiqun Chen

  • October 1, 2026

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