title: Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia.
abstract: BACKGROUND
  TOR1A (torsinA, DYT1) is the leading cause of early-onset generalized dystonia, however, the associations between common TOR1A single nucleotide polymorphisms (SNPs) and primary adult-onset focal dystonia are controversial.
  
  
  METHODS
  In a cohort of 201 focal cervical dystonia (CD) patients, we genotyped rs2296793 and rs3842225 SNPs in TOR1A using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis. We also included 289 unrelated, age- and sex-matched healthy controls (HCs) from the same region.
  
  
  RESULTS
  No significant differences were found in either the genotype distributions or minor allele frequencies (MAFs) of rs2296793 and rs3842225 between CD patients and HCs. There were no significant differences between early-onset and late-onset CD patients, between patients with and without a positive family history of dystonia, or between patients with and without tremor or sensory tricks.
  
  
  CONCLUSIONS
  Our study suggests that the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in CD in a Chinese population.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Qingqing
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Yongping
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Bei
authors.initials: B
authors.lastname: Cao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Qianqian
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Ruwei
authors.initials: R
authors.lastname: Ou
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Song
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Bi
authors.initials: B
authors.lastname: Zhao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. Electronic address: hfshang2002@126.com.
authors.forename: Huifang
authors.initials: H
authors.lastname: Shang
mesh_terms: D000328:Adult; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014103:Torticollis / Q000208:ethnology / Q000235:genetics*
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human
keywords: Cervical dystonia; TOR1A; rs2296793; rs3842225