TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia. (2nd September 2015)

• Record Type: Journal Article
• Authors: Timerbaeva, Sofia L.; Abramycheva, Natalia Yu.; Rebrova, Olga Yu.; Illarioshkin, Sergey N.
• Is Part Of: International journal of neuroscience. Volume 125:Number 9(2015:Sep.)
• Page Start: 671
• Page End: 677
• Publication Date: 2015-09-02
• Subjects: Nervous system -- Periodicals; 612.805
• Languages: English
• ISSNs: 0020-7454

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>Purpose/Aim of the study</italic>: To analyze contribution of rs3842225 and rs1182 single nucleotide polymorphisms (SNP) in <italic>TOR1A</italic> 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. <italic>Materials and methods</italic>: We analyzed associations between rs3842225 and rs1182 polymorphisms in <italic>TOR1A</italic> and focal/segmental dystonia in 254 patients from Russian population, including 218 Slavic patients and 36 patients of mixed ethnic background. <italic>Results</italic>: 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, <italic>p</italic> = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, <italic>p</italic> = 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. <italic>Conclusions</italic>: Our data in an Eastern Slavic (Russian) population correspond well to results of other studies from different countries and confirm that certain <italic>TOR1A</italic> genotypes may be regarded as factors predisposing to focal and segmental dystonia.</p> </abstract>