The Genetic Basis of Hypertension

Abstract

Hypertension (HTN) is one of the major risk factors for almost all cardiovascular diseases including coronary artery disease, stroke, heart failure and renal failure. Nonetheless , blood pressure (BP) regulation is insufficient due to its multifactorial nature involving interactions among genetic, environmental, mechanistic and neuroendocrine factors. Essential hypertension is the most frequent diagnosis indicating that a monocausal etiology has not been identified. The identification of causal genetic determinants has been unfulfilling. Analyses of rare monogenic syndromes of HTN focusing on renal sodium handling and steroid hormone metabolism have proved the well-defined genetic frame of hypertension though they do not affect the normal distribution of BP in the general population. Genome-wide association studies (GWAS) have revealed genetic variants that are associated with BP with small effect size which cumulatively explain to a very small extend the variability of BP. New large-scale studies in the genomic arena will clarify the polygenic determinants of BP and open a perspective on translation of the progression in BP genetics to clinical use.