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.
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