The MC1R melanoma risk variant p.R160W is associated with Parkinson disease

• DOI: 10.1002/ana.24373
• Publication Date: 2015-01-29T06:31:05Z
• Authors: Gemma Tell‐Marti; Joan Anton Puig‐B...; Miriam Potrony; Celia Badenas; Montserrat Milà; Josep Malvehy; María José Martí; Mario Ezquerra; Rubén Fernández‐S...; Susana Puig
• Keywords: Adult; Male; Molecular Sequence Data; Genetic Variation; Parkinson Disease; Middle Aged; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Spain; Case-Control Studies; Humans; Female; Genetic Predisposition to Disease; Amino Acid Sequence; Melanoma; Receptor, Melanocortin, Type 1; Genetic Association Studies; Aged

Epidemiological studies have reported the co‐occurrence of Parkinson disease (PD) and melanoma. Common genetic variants in the MC1R (melanocortin 1 receptor) gene, which determines skin and hair color, are associated with melanoma. Here we investigated whether genetic variants in MC1R modulate the risk of PD by sequencing the entire gene in 870 PD patients and 736 controls ascertained from Spain. We found that the MC1R variant p.R160W (rs1805008) is marginally associated with PD (odds ratio = 2.10, gender‐ and age‐adjusted p = 0.009, Bonferroni‐corrected p = 0.063). Our results suggest that MC1R genetic variants modulate the risk of PD disease in the Spanish population. Ann Neurol 2015;77:889–894