folder

Molecular genetics of human hypertension

Authors

  • F.C. Luft

Journal

  • Current Opinion in Cardiology

Citation

  • Curr Opin Cardiol

Abstract

  • PURPOSE OF REVIEW: Genetic variance on blood pressure was shown about 100 years ago; a Mendelian inheritance was initially presumed. Platt and Pickering conducted a lively debate, whether blood pressure was inherited in a Mendelian fashion or whether the condition was polygenic. Genetic-hypertension research has appropriately followed both pathways. RECENT FINDINGS: Genome-wide association studies, Pickering model, have identified more than 500 blood-pressure loci, the targets of which are waiting to be evaluated. Then, come the 'dark-horses' of hypertension, namely 'secondary' causes. These conditions have been remarkably elucidative including pheochromocytoma, primary aldosteronism, Cushing's syndrome, and even renovascular hypertension. All these conditions feature genetic causes. Finally, arrive the Platt followers. A plethora of Mendelian conditions located within the kidney are established. These syndromes involve increased sodium (as chloride) absorption in the distal nephron. Finally, nonsalt-dependent Mendelian forms involving the vascular directly have been described. Mechanistically, Mendelian forms have large effects on blood pressure and offer effective treatment targets. SUMMARY: Which genetic models will bring us improved therapies? Ongoing studies will answer that question. It behooves the clinician to follow this dynamic area of research.


DOI

doi:10.1097/HCO.0000000000000722