title: Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.
abstract: To examine the association between the sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1) gene, and Parkinson's disease (PD) in Han Chinese from Central South part of Mainland China, we performed systematic genetic analysis in 502 Chinese Han patients with PD and 637 gender-, age-, and ethnicity-matched normal controls from Central South part of the Mainland China. We identified 11 single nucleotide variants and Leu-Ala (Val) repeat variants in the SMPD1 gene in our large cohort. Two novel missense variants, c.638A > C (p.H213P) and c.1673T > C (p.L558P), and a rare known missense variant, c.1805G > A (p.R602H, rs370129081), were identified in three sporadic PD cases. None of these three variants were observed in controls. Additionally, case-control analysis showed association between Leu-Ala (Val) repeat variants in SMPD1 and Chinese Han patients with PD (P = 0.015, χ (2) = 8.451). Our data provide supportive evidence that some genetic variants in SMPD1 increase the risk of PD in the Chinese Han population.
authors.affiliation: Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, China.|Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, P.R. China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Deng
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, P.R. China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, P.R. China.
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, P.R. China.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Xiu
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, P.R. China.|Department of Medical Information, Research Institute of Information Security and Big Data, Central South University, Changsha, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Guo
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Xiao
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, P.R. China. hdeng008@yahoo.com.|Department of Neurology, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, P.R. China. hdeng008@yahoo.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
chemical_list: C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase
keywords: Parkinson’s disease; Risk; The SMPD1 gene; Variant