Angiotensin II type 1 receptor gene polymorphisms in humans: physiology and pathophysiology of the genotypes

Many studies have attempted to relate genetic variants of components of the renin-angiotensin system to complex diseases such as essential hypertensio n, cardiovascular disease and progressive renal failure. The angiotensin II type 1 receptor (AT(1)R) gene is an important example of this approach. Ma ny polymorphisms of the AT(1)R gene have been identified, but the A(1166)-- >C polymorphism has been the most extensively studied. The physiological si gnificance of this polymorphism is uncertain because of its location in the 3'-untranslated region of the gene. The present review summarizes associat ion studies of the AT(1)R gene, focusing on clinical end-points and physiol ogical responses. Curr Opin Nephrol Hypertens 10:111-116. (C) 2001 Lippinco tt Williams & Wilkins.