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).
Ann Neurol. 2015 May;77(5):889-94. doi: 10.1002/ana.24373. Epub 2015 Mar 13.
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.
流行病学研究报告称帕金森病（PD）和黑色素瘤同时存在。MC1R（黑色素皮质激素 1 受体）基因中的常见遗传变异决定了皮肤和头发的颜色，与黑色素瘤有关。在这里，我们通过对 870 名 PD 患者和 736 名来自西班牙的对照者进行整个基因测序，研究了 MC1R 基因中的遗传变异是否会调节 PD 的风险。我们发现 MC1R 变体 p.R160W（rs1805008）与 PD 呈轻微相关（比值比=2.10，性别和年龄调整后的 p=0.009，Bonferroni 校正后的 p=0.063）。我们的研究结果表明，MC1R 基因的遗传变异在西班牙人群中调节 PD 的发病风险。
