Angiotensin II type 2 receptor gene polymorphisms and essential hypertension.
OBJECTIVE
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).


CONCLUSIONS
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.
Zhang
Yi
Y
Ruijin Hospital, Shanghai Institute of Hypertension, State Key Laboratory of Medical Genomics, Shanghai Second Medical University, Shanghai 200025, China.
Zhang
Kui-Xing
KX
Wang
Gu-Liang
GL
Huang
Wei
W
Zhu
Ding-Liang
DL
D000368:Aged; D044466:Asian People; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D044139:Receptor, Angiotensin, Type 2 / Q000235:genetics*
D044139:Receptor, Angiotensin, Type 2