Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia

Neurosci Lett. 2016 Jan 26:612:185-188. doi: 10.1016/j.neulet.2015.12.030. Epub 2015 Dec 15.

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.

Result: 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.

Conclusion: Our study suggests that the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in CD in a Chinese population.

Keywords: Cervical dystonia; TOR1A; rs2296793; rs3842225.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People
  • Case-Control Studies
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Middle Aged
  • Molecular Chaperones / genetics*
  • Polymorphism, Single Nucleotide
  • Torticollis / ethnology
  • Torticollis / genetics*

Substances

  • Molecular Chaperones
  • TOR1A protein, human