Abstract

Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the loci and genes underlying phenotypic traits, highlighted genetic correlations across traits and diseases and are beginning to demonstrate clinical utility by identifying individuals at increased risk for common diseases. GWAS have been widely utilised across cardiovascular diseases and associated phenotypic traits, with insights facilitated by multi-centre registry studies and large biobank datasets. In this review, we describe how GWAS have informed the genetic architecture of cardiovascular diseases and the insights they have provided into disease pathophysiology, using archetypal conditions for both common and rare disease. We also describe how biobank datasets can complement disease-specific studies - particularly for rarer cardiovascular diseases - and how findings from GWAS have the potential to impact on clinical care. Finally, we discuss the outstanding challenges facing research in this field and how they can be addressed.