Why the study?
Are common and rare SCN10A variants associated with early onset atrial fibrillation?
Are common and rare SCN10A variants associated with early onset atrial fibrillation?
The study investigates the genetic association and functional impact of SCN10A variants on the risk of early-onset atrial fibrillation.
Answers are grounded in this paper and cite their sources.
SCN10A variants may contribute to lone AF susceptibility; leaves open causal role and need for replication before any clinical use.
Background-Genome-wide association studies (GWAS) have shown that the common single nucleotide polymorphism (SNP) rs6800541 located in SCN10A, encoding the voltage-gated Na v 1.8 sodium channel, is associated with PR-interval prolongation and atrial fibrillation (AF).SNP rs6800541 is in high linkage disequilibrium with the non-synonymous variant in SCN10A, rs6795970 (V1073A, r 2 =0.933).We therefore sought to determine whether common and rare SCN10A variants are associated with early onset AF.Methods and Results-SCN10A was sequenced in 225 AF patients in whom there was no evidence of other cardiovascular disease or dysfunction (lone AF).In an association study of the rs6795970 SNP variant, we included 515 AF patients, and two control cohorts of 730 individuals free of AF and 6,161 randomly sampled individuals.Functional characterization of SCN10A variants was performed by whole-cell patch-clamping.
No takes yet. Share an insight, caveat, or question.
Jabbari et al. (2015) studied this question.
Synapse has enriched 10 related papers. Consider them for comparative context: