title: Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.
abstract: Parkinson's disease (PD, OMIM 168600) is a neurodegenerative disorder featured by degeneration of melanin-positive dopaminergic neurons. Epidemiologic studies have suggested that PD and malignant melanoma (MM) might share common genetic components. Recently, the p.R160W variant in the melanocortin 1 receptor gene (MC1R, OMIM 155555), a risk factor for MM, has been identified to be associated with PD in Spanish population. To explore whether the MC1R variants are associated with sporadic PD in Chinese population, we designed a case-control comparison study and studied three variants, including rs3212366 (p.F196L), rs33932559 (p.I120T) and rs34090186 (p.R67Q), in the MC1R gene in 512 Chinese Han patients with sporadic PD and 512 age, gender and ethnicity matched normal controls. For rs3212366, only the TT genotype was identified in both PD and control cohorts. For variants rs33932559 and rs34090186, we did not identify any statistically significant difference in either genotypic distribution or allelic distribution between the PD cohort and control cohort, and in addition, we did not identify any related haplotype that would either increase the risk for PD or play a protective role against PD. Our data suggest that none of the three variants of the MC1R gene and related haplotypes be associated with sporadic form of PD in Chinese Han population from Mainland China.
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Sihan
authors.initials: S
authors.lastname: He
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Tan
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Institute of Hunan Province, Changsha, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Ni
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Institute of Hunan Province, Changsha, China. Electronic address: chenyong0008@sina.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China. Electronic address: hdeng008@yahoo.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*
chemical_list: D044102:Receptor, Melanocortin, Type 1
keywords: Chinese Han; MC1R gene; Sporadic Parkinson’s disease; rs3212366; rs33932559; rs34090186