title: TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia.
abstract: OBJECTIVE
  To analyze contribution of rs3842225 and rs1182 single nucleotide polymorphisms (SNP) in TOR1A gene, the causative gene for the DYT1 form of hereditary early-onset generalized dystonia, to the development of focal and segmental dystonia in Russian patients.
  
  
  METHODS
  We analyzed associations between rs3842225 and rs1182 polymorphisms in TOR1A and focal/segmental dystonia in 254 patients from Russian population, including 218 Slavic patients and 36 patients of mixed ethnic background.
  
  
  RESULTS
  Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003). In Slavs, we also observed an overrepresentation of the homozygous genotypes, T/T (general sample of dystonia, 9.17% and focal dystonia, 10.28%) or G/G (general sample of dystonia, 60.55% and focal dystonia, 58.86%), compared to controls (T/T, 4.27% and G/G, 55.49%). In non-Slavic patients, we revealed neither significant associations, nor statistical tendencies regarding any of the clinical features.
  
  
  CONCLUSIONS
  Our data in an Eastern Slavic (Russian) population correspond well to results of other studies from different countries and confirm that certain TOR1A genotypes may be regarded as factors predisposing to focal and segmental dystonia.
authors.affiliation: 1Department of Neurogenetics , and.
authors.forename: Sofia L
authors.initials: SL
authors.lastname: Timerbaeva
authors.forename: Natalia Yu
authors.initials: NY
authors.lastname: Abramycheva
authors.forename: Olga Yu
authors.initials: OY
authors.lastname: Rebrova
authors.forename: Sergey N
authors.initials: SN
authors.lastname: Illarioshkin
mesh_terms: D000328:Adult; D017668:Age of Onset; D015331:Cohort Studies; D020821:Dystonic Disorders / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012426:Russia / Q000208:ethnology; D044465:White People / Q000208:ethnology / Q000235:genetics*
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human
keywords: Russian population; TOR1A gene; focal and segmental dystonia; genetic associations