title: MC1R variants in Chinese Han patients with sporadic Parkinson's disease.
abstract: Recently, a variant p.R160W in the MC1R gene was identified that increased the risk of Parkinson's disease (PD) in Spanish population. To explore whether the MC1R gene variants are associated with sporadic PD in Chinese population, we performed a case-control comparison study for comprehensive MC1R variant screening in 510 Chinese Han patients and 495 healthy controls as ethnically matched controls. We identify 5 nonsynonymous variants, including rs34090186 (p.R67Q), rs2228479 (p.V92M), rs33932559 (p.I120T), rs885479 (p.R163Q), and rs372152373 (p.R223W). However, variants mentioned previously did not show association with PD. Our results suggest that variants in MC1R do not play a major role in PD in the Chinese population.
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Chang-He
authors.initials: CH
authors.lastname: Shi
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Institute of Clinical Medicine, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Institute of Clinical Medicine, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Cheng-Yuan
authors.initials: CY
authors.lastname: Mao
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Song
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Yu-Tao
authors.initials: YT
authors.lastname: Liu
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Zhi-Hua
authors.initials: ZH
authors.lastname: Yang
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Institute of Clinical Medicine, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Hai-Yang
authors.initials: HY
authors.lastname: Luo
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; Institute of Clinical Medicine, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Shu-Yu
authors.initials: SY
authors.lastname: Zhang
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China. Electronic address: xuyuming@zzu.edu.cn.
authors.forename: Yu-Ming
authors.initials: YM
authors.lastname: Xu
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012306:Risk
chemical_list: D044102:Receptor, Melanocortin, Type 1
keywords: Association; Chinese population; MC1R; Parkinson's disease; Variant