The genetic architecture of blood pressure variation

Abstract

High blood pressure affects over 1 billion people worldwide and is responsible for 50% of all cardio vascular deaths. Despite numerous candidate gene and linkage studies, no susceptibility loci for hypertension have been robustly validated except for rare monogenic disorders. Recent large meta-analyses of genome-wide association scans, however, have changed the situation. Thirteen new hypertension loci have now been described, many of which have strong biological candidates. All associated variants have common allele frequencies and exert modest to small effects on disease risk. Rare and low frequency variants with larger effect sizes in genes causing monogenic disorders have also been found, suggesting blood pressure heritability may be explained in part by a combination of both common and rare genetic variants. It is hoped these new findings will pave the way for a better understanding of blood pressure regulation and offer the potential to develop new treatments that may prevent heart disease and stroke.