Complex cardiovascular diseases: the genetics of arterial hypertension

Abstract

Arterial hypertension appears as two genetic types: primary hypertension is to a substantial extent determined by a large number of genetic risk variants, whereas rare patients with a familial hypertensive syndrome have a single gene defect that drives the elevated blood pressure. The familial hypertensive syndromes have been instrumental in highlighting blood pressure-regulating pathways that almost exclusively cluster in the kidney and in the mineralocorticoid pathways. Conversely, hundreds or more genetic variants cause the genetic component of primary hypertension and each risk variant causes a small blood pressure increase. The blood vessels appear to be one tissue in which these variants principally act and surprisingly there is little overlap with pathways of kidney and hormone pathways. Genetic testing is useful for the rare familial hypertensive syndrome, but in primary hypertension cardiovascular risk prediction can currently not be improved by genotyping.