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 (AT1R) gene is an important example of this approach. Many polymorphisms of the AT1R gene have been identified, but the A1166-->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 AT1R gene, focusing on clinical end-points and physiological responses.
Duncan
J A
JA
Department of Medicine, University of Toronto, Canada.
Scholey
J W
JW
Miller
J A
JA
D002318:Cardiovascular Diseases / Q000235:genetics; D003928:Diabetic Nephropathies / Q000503:physiopathology; D005838:Genotype; D006439:Hemodynamics / Q000502:physiology; D006801:Humans; D006973:Hypertension / Q000235:genetics; D011110:Polymorphism, Genetic; D044140:Receptor, Angiotensin, Type 1; D044139:Receptor, Angiotensin, Type 2; D011945:Receptors, Angiotensin / Q000235:genetics*
D044140:Receptor, Angiotensin, Type 1; D044139:Receptor, Angiotensin, Type 2; D011945:Receptors, Angiotensin