Association of angiotensin II receptor type 1 gene single nucleotide polymorphism with Chinese essential hypertension complicated with coronary heart disease / 中华心血管病杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the genetic variants of angiotensin II type 1 receptor (AT1) gene in a population of Han ethnicity in east China and to determine whether the AT1 gene polymorphisms are associated with essential hypertension (EH) and coronary heart disease (CHD).</p><p><b>METHODS</b>The detection of single nucleotide polymorphisms (SNPs) was performed in 20 subjects by a direct DNA sequencing. All 213 EH patients, 171 patients of EH with CHD and 200 controls were genotyped by three detected SNPs.</p><p><b>RESULTS</b>Eight positive SNPs were detected in the promoter, exon and 3' untranslated region (3'UTR) of AT1 gene. A case-control study by using a frequent SNP (A-153G) in the promoter region, showed a significant increase in allele frequency of G-153 in the subjects of EH complicated with CHD (17.8% vs 11.5% for normal controls, P < 0.05). The SNP A1166C, which has been widely studied, manifested no difference in the three groups.</p><p><b>CONCLUSION</b>A polymorphism in the promoter region (A-153G) of AT1 gene might be involved in the development of EH and CHD in Han ethnicity population in east China.</p>