Variant Intronic Enhancer Controls <i>SCN10A-short</i> Expression and Heart Conduction

Abstract

Genetic variants in and around <i>SCN10A</i> modulate enhancer function and expression of a cardiac-specific <i>SCN10A-short</i> transcript. We propose that noncoding genetic variation modulates transcriptional regulation of a functional C-terminal portion of Na_V1.8 in cardiomyocytes that impacts on Na_V1.5 function, cardiac conduction velocities, and arrhythmia susceptibility.