Genetic epidemiology of essential hypertension

Abstract

This review article is intended to introduce the unini- tiated clinician to the basic concepts, aims and early findings of the genetic epidemiology of hypertension. It separates the rare monogenic ‘Mendelian’ hypertensive disorders from the vast majority of patients with essential hypertension, which is a complex, polygenic, multifactorial disorder resulting from interaction of several genes with each other and with the environment. It highlights some clinical strategies used to enhance searches for ‘candidates genes’, such as subgrouping of populations into relatively homogenous groups or ‘intermediate phenotypes’ according to presumably heritable anthropometric, clinical or biochemical characteristics; and some applications of genetic epi- demiologic techniques, such as linkage and association studies of certain gene polymorphisms with hypertension using affected sibling pairs and large sibships or wide genomic screens comparing affected and unaffected populations. Although so far there is no genotypic variation proven to be causally related to essential hypertension, its intermediate phenotypes or any of its complications, it is hoped that new, more efficient methods of genetic analysis will yield clinically meaningful information.