title: Association study between SMPD1 p.L302P and sporadic Parkinson's disease in ethnic Chinese population.
abstract: OBJECTIVE
  The protein encoded by sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1) is a lysosomal acid sphingomyelinase. While there are increasing evidences to suggest that lysosomal enzyme defects and Parkinson's disease (PD) have strong associations, and recently, SMPD1 p.L302P (c.T911C, NM_000543) was found to be a risk factor for PD in Ashkenazi Jewish ancestry population, we try to investigate the possible association between SMPD1 p.L302P and sporadic PD in ethnic Chinese population.
  
  
  METHODS
  455 sporadic PD and 476 health controls were included in our study. SMPD1 p.L302P (c.T911C) was genotyped by matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF MS) and the results were confirmed by Sanger sequencing.
  
  
  RESULTS
  Our results showed that none of 455 sporadic PD and 476 health controls carried p.L302P. All of the 931 subjects' genotypes were wild type TT. Our data indicated that in an ethnic Chinese population, p.L302P did not appear to be enriched in sporadic PD, and p.L302P may not be a risk factor for Chinese sporadic PD. And combine our data with the results from previous studies, we found that all of the 2,268 participants of Chinese population carrying no p.L302P.
  
  
  CONCLUSIONS
  We could make a conclusion that p.L302P may not be common events for Chinese population. Sequencing of SMPD1 gene to find additional novel rare variants in the SMPD1 gene in diverse populations is needed.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Kai
authors.initials: K
authors.lastname: Li
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China ; State Key Laboratory of Medical Genetics Changsha, 410008 Hunan, People's Republic of China ; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University Changsha, 410008 Hunan, People's Republic of China ; Neurodegenerative Disorders Research Center, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Nan-Nan
authors.initials: NN
authors.lastname: Yang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Ji-Feng
authors.initials: JF
authors.lastname: Kang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Zhen-Hua
authors.initials: ZH
authors.lastname: Liu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Rui-Qi
authors.initials: RQ
authors.lastname: Liu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China ; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University Changsha, 410008 Hunan, People's Republic of China ; Neurodegenerative Disorders Research Center, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Xin-Xiang
authors.initials: XX
authors.lastname: Yan
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China ; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University Changsha, 410008 Hunan, People's Republic of China ; Neurodegenerative Disorders Research Center, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, 410008 Hunan, People's Republic of China ; State Key Laboratory of Medical Genetics Changsha, 410008 Hunan, People's Republic of China ; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University Changsha, 410008 Hunan, People's Republic of China ; Neurodegenerative Disorders Research Center, Central South University Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Ji-Feng
authors.initials: JF
authors.lastname: Guo
keywords: Parkinson’s disease; SMPD1; SNP; ethnic Chinese population; p.L302P