Common Coding Variants in <i>SCN10A</i> Are Associated With the Nav1.8 Late Current and Cardiac Conduction.

ABSTRACT:

Background

Genetic variants at the SCN5A/SCN10A locus are strongly associated with electrocardiographic PR and QRS intervals. While SCN5A is the canonical cardiac sodium channel gene, the role of SCN10A in cardiac conduction is less well characterized.

Methods

We sequenced the SCN10A locus in 3699 European-ancestry individuals to identify variants associated with cardiac conduction, and replicated our findings in 21,000 individuals of European ancestry. We examined association with expression in human atrial tissue. We explored the biophysical effect of variation on channel function using cellular electrophysiology.

Results

We identified 2 intronic single nucleotide polymorphisms in high linkage disequilibrium (r  ²

SUBMITTER: Macri V 

PROVIDER: S-EPMC6377236 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature