title: The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
abstract: 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.
authors: Dermatology, Department, Melanoma Unit, Hospital Clínic and August Pi i Sunyer Biomedical Research Institute (IDIBAPS); Center for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute (ISCIII).
authors: Gemma
authors: G
authors: Tell-Marti
authors: Joan Anton
authors: JA
authors: Puig-Butille
authors: Miriam
authors: M
authors: Potrony
authors: Celia
authors: C
authors: Badenas
authors: Montserrat
authors: M
authors: Milà
authors: Josep
authors: J
authors: Malvehy
authors: María José
authors: MJ
authors: Martí
authors: Mario
authors: M
authors: Ezquerra
authors: Rubén
authors: R
authors: Fernández-Santiago
authors: Susana
authors: S
authors: Puig
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010300:Parkinson Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
chemical_list: D044102:Receptor, Melanocortin, Type 1