title: SNP rs11931074 of the SNCA gene may not be associated with multiple system atrophy in Chinese population.
abstract: BACKGROUND
  Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by poorly levodopa-responsive parkinsonism, cerebellar ataxia, and autonomic dysfunction. Pathogenic mechanisms remain obscure, but the neuropathological hallmark is the presence of α-synuclein-positive glial cytoplasmic inclusions. Previous studies suggested that a single nucleotide polymorphism (SNP), rs11931074, in the α-synuclein gene, SNCA, had highly significant association with an increased risk of the development of MSA in the Caucasian subjects. In contrast, a Korean study failed to identify an association with disease risk.
  
  
  METHODS
  To study the effect of rs11931074 on MSA risk in a Chinese population, we conducted a case-control study and genotyped SNP rs11931074 by Sanger sequencing in 96 Chinese patients with MSA and 120 healthy controls. Moreover, we performed a meta-analysis on the topic.
  
  
  RESULTS
  There was no statistical difference in genotypes or allele frequencies of SNP rs11931074 between MSA and control groups in our cohort. The results of meta-analysis showed that the risk allele T of rs11931074 was associated with MSA (pooled odds ratio = 1.26, 95% confidence interval = 1.07-1.49, P = 0.006).
  
  
  CONCLUSIONS
  Despite a positive result of the meta-analysis, the significant difference in frequency of allele T of rs11931074 between Asian and Caucasian subjects indicates that population heterogeneity at rs11931074 may exist.
authors.affiliation: 1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: ZhanFang
authors.initials: Z
authors.lastname: Sun
authors.forename: XiaoShuang
authors.initials: X
authors.lastname: Xiang
authors.forename: BeiSha
authors.initials: B
authors.lastname: Tang
authors.forename: Zhao
authors.initials: Z
authors.lastname: Chen
authors.forename: HuiRong
authors.initials: H
authors.lastname: Peng
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D051844:alpha-Synuclein / Q000235:genetics; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D019578:Multiple System Atrophy / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D051844:alpha-Synuclein; C497604:SNCA protein, human
keywords: SNCA gene; meta-analysis; multiple system atrophy; single nucleotide polymorphisms