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 hypertension, cardiovascular disease and progressive renal failure. The angiotensin II type 1 receptor (AT(1)R) gene is an important example of this approach. Many polymorphisms of the AT(1)R gene have been identified, but the A(1166)-->C polymorphism has been the most extensively studied. The physiological significance of this polymorphism is uncertain because of its location in the 3'-untranslated region of the gene. The present review summarizes association studies of the AT(1)R gene, focusing on clinical end-points and physiological responses. Curr Opin Nephrol Hypertens 10:111-116. (C) 2001 Lippincott Williams & Wilkins.