GWAS contribution to atrial fibrillation and atrial fibrillation-related stroke: pathophysiological implications

Pharmacogenomics. 2019 Jul;20(10):765-780. doi: 10.2217/pgs-2019-0054. Epub 2019 Aug 1.

Abstract

Atrial fibrillation (AF) and stroke are included in a group of complex traits that have been approached regarding of their study by susceptibility genetic determinants. Since 2007, several genome-wide association studies (GWAS) aiming to identify genetic variants modulating AF risk have been conducted. Thus, 11 GWAS have identified 26 SNPs (p < 5 × 10-2), of which 19 reached genome-wide significance (p < 5 × 10-8). From those variants, seven were also associated with cardioembolic stroke and three reached genome-wide significance in stroke GWAS. These associations may shed a light on putative shared etiologic mechanisms between AF and cardioembolic stroke. Additionally, some of these identified variants have been incorporated in genetic risk scores in order to elucidate new approaches of stroke prediction, prevention and treatment.

Keywords: AF-related stroke; GWAS; atrial fibrillation; genetic risk scores; genetic variants.

Publication types

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

MeSH terms

  • Animals
  • Atrial Fibrillation / genetics*
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study / methods
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • Risk Factors
  • Stroke / genetics*