Genetic screening in arterial hypertension

Studies involving adoptive families and twins have demonstrated the genetic basis of hypertension and shown that genetic factors account for about 40% of the variance in blood pressure among individuals. Arterial hypertension is genetically complex: multiple genes influence the blood pressure phenotype through allelic effects from single genes and gene-gene interactions. Moreover, environmental factors also modify the blood pressure phenotype. This complexity explains why the identification of the underlying genes has not been as successful in hypertension as in other diseases (such as type 1 and type 2 diabetes mellitus). The identification of the genetic determinants of hypertension has been most successful in endocrine forms of hypertension, which have well-defined phenotypes that permit a precise patient stratification into homogeneous cohorts. A promising area for the application of genetic testing to personalized medicine is the prediction of responses and adverse reactions to antihypertensive drugs. The identification of genetic markers of drug response will enable the design of randomized controlled trials in much smaller series of patients than is currently possible, decreasing the costs and times from drug design to clinical use and ultimately providing patients and doctors with a larger number of tools to combat hypertension, the most important risk factor for cardiovascular disease. This Review focuses on the rapidly developing field of genetic testing in patients with arterial hypertension.