Aim: To identify the genetic variants of angiotensin II type 2 receptor (AT2R) gene in a Chinese population and to determine whether the AT2R gene polymorphisms are associated with essential hypertension (EH).
Methods: The detection of single nucleotide polymorphisms (SNPs) was performed in 19 subjects by a direct DNA sequencing. Two hundred fifty patients with EH and 250 nomortensive controls were included in the study to assess the contribution of polymorphism of AT2R gene to hypertension.
Results: We identified 9 SNPs in the promoter, intron, exons and 3' untranslated region (3'UTR) of AT2R gene; among them 5 SNPs were novel molecular variants. A case-control study using a most frequent SNP (1334T/C) in the promoter region, showed a significant increase in allele frequency of C1334 in male hypertensive subjects (17.5 % vs 10.3 % for normotensive subjects, P<0.05).
Conclusion: The catalogue of SNPs of AT2R gene in Chinese population showed ethnic difference in DNA sequence variation. A polymorphism in the promoter region (1334T/C) of AT2R gene might be involved in the development of hypertension in Chinese population.