rs10483639

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 review examines polymorphisms in six genes (SCN9A, KCNS1, GCH1, COMT, OPRM1, OPRK1) involved in nociception and their associations with chronic post-surgical pain (CPSP). Key findings include rs4680 in COMT associated with higher pain risk (OR 3.42 in knee replacement patients), rs734784 in KCNS1 explaining ~5% of pain variance in lumbar discectomy patients, and rs6746030 in SCN9A conferring increased pain sensitivity. The paper reviews conflicting evidence across multiple surgical populations and discusses potential clinical applications of genetic testing for CPSP risk stratification.