Present status of genetic mechanisms in hypertension

Abstract

Studies on Mendelian hypertension have provided great insight into mechanisms causing hypertension. Mineralocorticoid synthesis and degradation, the mineralocorticoid receptor, sodium channel resorptive mechanisms, and regulation of the thiazide-sensitive sodium-chloride cotransporter have been shown to cause hypertension. Aberrant regulation of peripheral vascular resistance and circulatory regulation have not yet been proved but have been strongly implicated in Mendelian hypertension with brachydactyly. Hypertension as a complex genetic trait has proved more difficult because many genes are involved and the genes have much smaller effects. Association studies, linkage analyses, single nucleotide polymorphism analyses, synteny in animal models, and gene expression studies are the current tools and steady progress is being made.