title: Is TOR1A a risk factor in adult-onset primary torsion dystonia?
abstract: BACKGROUND
  Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.
  
  
  METHODS
  The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia.
  
  
  RESULTS
  In this Dutch cervical dystonia cohort, no significant association was found with TOR1A variants. In the meta-analysis (eight studies, 1332 adult-onset primary dystonia patients) no variant reached overall significance. However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02).
  
  
  CONCLUSIONS
  Meta-analysis does not show association with common variants in TOR1A in adult-onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases.
authors: Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors: Justus L
authors: JL
authors: Groen
authors: Katja
authors: K
authors: Ritz
authors: Michael W
authors: MW
authors: Tanck
authors: Bart P
authors: BP
authors: van de Warrenburg
authors: Jacobus J
authors: JJ
authors: van Hilten
authors: Majid
authors: M
authors: Aramideh
authors: Frank
authors: F
authors: Baas
authors: Marina A J
authors: MA
authors: Tijssen
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human