Exploring associations between estrogen and gene candidates identified by coronary artery disease genome-wide association studies

Abstract

Introduction Coronary artery disease (CAD) is the leading cause of death around the world, with well-described epidemiological sex and gender differences in prevalence, pathophysiology and management outcomes. It has been hypothesized that sex steroids, like estrogen, may contribute to these sex differences. There is a relatively large genetic component to developing CAD, with heritability estimates ranging between 40-60%. In the last two decades, the computational methods, capabilities and scalability of genome-wide association studies (GWAS) have contributed substantially to advancing the understanding of which genetic candidates contribute to CAD. The aim of this study was to determine if genes discovered in CAD GWASs are affected by estrogen by means of direct modulation or indirect down-stream targets.