rs1182

This comprehensive literature review examines the role of single-nucleotide polymorphisms (SNPs) and genetic variants in dystonia susceptibility, reviewing 43 published studies (2001-2017) across 29 genes. Key findings include associations of TOR1A variants (rs1182, rs1801968, rs35153737) with focal dystonia, BDNF rs6265 (Val66Met) with cervical dystonia and blepharospasm, and preliminary GWAS-identified variants in ARSG (rs11655081, rs61999318) and NALCN with dystonia risk. The review concludes that genetic factors confer dystonia susceptibility through multiple pathways, though many associations require validation in larger cohorts.

This association study of 263 North American patients with focal or segmental dystonia found a strong protective association between the deletion allele at the Mtdel SNP (rs3842225) in the TOR1A gene and reduced risk of dystonia (OR=0.59, p=0.007), particularly for cervical dystonia (OR=0.48, p=0.002). The D216H SNP (rs1801968) showed no significant association. The findings suggest genetic variability in the TOR1A locus contributes to focal dystonia risk, though results vary by population.

This study examined the TOR1A rs1182 polymorphism in two independent cohorts (144 Italian and 257 USA patients) with primary blepharospasm. Patients carrying the T allele (G/T or T/T) had significantly higher risk of dystonia spread compared to homozygous G carriers (Italian: adjusted HR 1.9, 95% CI 1.1-3.2, p=0.03; USA: adjusted HR 2.1, 95% CI 1.1-3.9, p=0.02), with consistent findings across both populations supporting a genetic contribution to blepharospasm spread.