Genetics of Atrial Fibrillation: Implications for Future Research Directions and Personalized Medicine

Atrial fibrillation (AF) was first described in humans approximately 100 years ago,1 and familial forms of AF were reported over 70 years ago.2,3 Within the last ten years, three critical developments have advanced our understanding of the genetic basis of AF. First, multiple epidemiological studies have demonstrated that AF is heritable. Second, rare mutations predisposing to AF have been identified in potassium and sodium channels, gap junction proteins and signaling molecules. Finally, population-based, genome-wide association studies (GWAS) have implicated novel biological pathways responsible for AF. The molecular biology of established mutations underlying AF has been well summarized.4,5 Here, we focus on the approaches employed to identify AF susceptibility loci and describe the findings from recent GWAS of AF. We also address future directions in the field of AF genetics that may improve our understanding of AF pathophysiology, risk prediction, prevention and patient management.