Blood pressure and human genetic variation in the general population

Hypertension is a complex trait with multiple environmental and genetic contributors. Until recently, linkage studies of rare Mendelian disorders of hypertension and hypotension have produced the most notable progress toward understanding the heritable basis of blood pressure (BP). Association studies to identify common variants have been limited in the past by small sample sizes and most findings have lacked replication.

Recently, well powered, targeted candidate gene and genome-wide association studies have reported reproducible associations between rare and common genetic variants and BP and hypertension at the population level.

Identification of novel genes will lead to an improved understanding of BP regulation and the potential for novel therapies.