Objective: 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).
Methods: 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.
Results: 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.
Conclusion: 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.