GENETIC APPROACH TO DIAGNOSTIC AND THERAPEUTIC DECISIONS IN HUMAN HYPERTENSION

In the most exciting genetic advances in the diagnosis of essential hy pertension, genes responsible for three distinct forms of low-renin hy pertension have been identified. Two of these forms are dominant: gluc ocorticoid remediable hypertension (a new gene created by the fusion o f the 11 beta-hydroxylase and aldosterone synthase genes) and Liddle's syndrome (a defect in the epithelial sodium channel). One of the form s is recessive: the syndrome of apparent mineralocorticoid excess (a d efect in renal 11 beta-hydroxysteroid dehydrogenase). The role of more than 20 other genes in causing hypertension has been assessed with va riable findings. The most convincing evidence supports a role for the angiotensinogen gene, where linkage has been documented and an associa tion with an intermediate phenotype of hypertension (nonmodulation) ha s been reported.