Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4-subunit SCN4B with atrial fibrillation.

ABSTRACT: Atrial fibrillation (AF) affects 33.5 million individuals worldwide. It accounts for 15% of strokes and increases risk of heart failure and sudden death. The voltage-gated cardiac sodium channel complex is responsible for the generation and conduction of the cardiac action potential, and composed of the main pore-forming α-subunit Na_v 1.5 (encoded by the SCN5A gene) and one or more auxiliary β-subunits, including Na_v β1 to Na_v β4 encoded by SCN1B to SCN4B, respectively. We and others identified loss-of-function mutations in SCN1B and SCN2B and dominant-negative mutations in SCN3B in patients with AF. Three missense variants in SCN4B were identified in sporadic AF patients and small nuclear families; however, the association between SCN4B variants and AF rem

SUBMITTER: Xiong H 

PROVIDER: S-EPMC6815221 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature