title: Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort.
abstract: BACKGROUND
  The D216H single-nucleotide polymorphism (SNP) (rs1801968) in DYT1 exon 4 has been suggested to be a genetic modifier in primary dystonia.
  
  
  METHODS
  To further explore this question, we assessed rs1801968 variations in a cohort of 210 Chinese patients with primary dystonia devoid of DYT1 mutations.
  
  
  RESULTS
  We found that focal dystonia, specifically cervical dystonia, was the most common form of dystonia, with 8.1% of all the patients having a positive family history of dystonia. No association of the D216H SNP with primary dystonia was identified. In a subsequent subgroup analysis, the 216H allele was found to occur more frequently in patients with writer's cramp, but no correlation was found between the allele and other forms of dystonia or age of onset.
  
  
  CONCLUSIONS
  Our findings do not confirm that the allele contributes to the risk of D216H SNP primary dystonia.
authors: Department of Neurology, SiChuan University, Chengdu, Sichuan, China.
authors: Y
authors: Y
authors: Chen
authors: J-M
authors: JM
authors: Burgunder
authors: W
authors: W
authors: Song
authors: R
authors: R
authors: Huang
authors: H-F
authors: HF
authors: Shang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001216:Asparagine / Q000235:genetics*; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human; D006639:Histidine; D001216:Asparagine