Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension

Abstract

We conducted the present study to determine whether the angiotensin II type 1 receptor (AT1) gene might be implicated in human essential hypertension by using case-control and linkage studies. The entire coding and 3' untranslated regions of the AT1 receptor gene (2.2 kb) were amplified by polymerase chain reaction and submitted to single-strand conformation polymorphism in 60 hypertensive subjects with a familial susceptibility. We identified five polymorphisms (T573→C, A1062→G, A1166→C, G1517→T, and A1878→G). However, no mutations that alter the encoded amino acid sequence were detected. A case-control study performed on white hypertensive (n=206; blood pressure, 168±16/103±9 mm Hg) and normotensive (n=298; blood pressure, 122±10/75±9 mm Hg) subjects using three of five polymorphisms showed a significant increase in allelic frequency of C1166 in hypertensive subjects (0.36 versus 0.28 for normotensive subjects, χ2=6.8, P