Genome-wide association studies of cardiac electrical phenotypes

Cardiovasc Res. 2020 Jul 15;116(9):1620-1634. doi: 10.1093/cvr/cvaa144.

Abstract

The genetic basis of cardiac electrical phenotypes has in the last 25 years been the subject of intense investigation. While in the first years, such efforts were dominated by the study of familial arrhythmia syndromes, in recent years, large consortia of investigators have successfully pursued genome-wide association studies (GWAS) for the identification of single-nucleotide polymorphisms that govern inter-individual variability in electrocardiographic parameters in the general population. We here provide a review of GWAS conducted on cardiac electrical phenotypes in the last 14 years and discuss the implications of these discoveries for our understanding of the genetic basis of disease susceptibility and variability in disease severity. Furthermore, we review functional follow-up studies that have been conducted on GWAS loci associated with cardiac electrical phenotypes and highlight the challenges and opportunities offered by such studies.

Keywords: Arrhythmias.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Action Potentials / drug effects
  • Action Potentials / genetics*
  • Age Factors
  • Animals
  • Anti-Arrhythmia Agents / therapeutic use
  • Arrhythmias, Cardiac / drug therapy
  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / physiopathology
  • Electrocardiography
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Heart Rate / drug effects
  • Heart Rate / genetics*
  • Heredity
  • Humans
  • Pharmacogenomic Variants
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Risk Assessment
  • Risk Factors

Substances

  • Anti-Arrhythmia Agents