Objective: To explore the association of single nucleotide polymorphisms (SNPs) of three candidate genes, including T869C of transforming growth factor beta1 (TGF-beta1), -344T/C of aldosterone synthase (CYP11B2) and Gly460Trp of alpha-Adducin with essential hypertension in Chinese Han population.
Methods: Three hundred ninety six hypertensive patients and 214 normotensive subjects were genotyped for T869C, -344T/C and Gly460Trp polymorphisms with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and mutagenically separated PCR (MS-PCR), respectively.
Results: In single-gene analysis, no association was observed between either CYP11B2 -344T/C or alpha-Adducin Gly460Trp polymorphism and essential hypertension. For female, there were significant difference in genotype distribution and allele frequency of T869C polymorphism (P < 0.02), as compared with subjects with T allele. CC homozygosity had a higher relative risk of hypertension (OR = 2.97, 95% CI, 1.38 to 6.32, P = 0.004), whereas we failed to detect any association between T869C polymorphism and essential hypertension in male. In multiple-gene analysis, the incidence of hypertension was higher in CYP11B2 TT homozygosity than in other CYP11B2 genotypes (OR = 1.99, 95% CI, 1.01 to 3.74, P = 0.03) in the presence of TGF-beta1 CC genotype.
Conclusions: Our results indicated that T869C polymorphism of TGF-beta1 gene might be associated with essential hypertension in female, furthermore, the TGF-beta1 T869C and CYP11B2-344T/C polymorphisms appeared to interact in hypertensive population.