Association of the K173R variant and haplotypes in the aldosterone synthase gene with essential hypertension

Aldosterone synthase plays an important role in determining the levels of aldosterone secretion. Polymorphisms of the aldosterone synthase gene (CYP11B2) are suggested to be associated with essential hypertension. In this study, we examined associations of CYP11B2 polymorphisms ?344T/C, K173R and intron 2 conversion (IC)] with Korean hypertensive patients. Three hundred and forty patients with hypertension and 515 healthy normotensive subjects were studied. CYP11B2 polymorphisms in the subjects were analyzed by polymerase chain reaction–restriction fragment length polymorphism techniques. Of the three polymorphisms studied, we observed a significant difference in the mutant genotype of K173R polymorphism between the hypertensive and normotensive groups (P = 0.03). Several haplotype frequencies composed of three polymorphisms were also associated with hypertension susceptibility. Association between the K173R polymorphism and values of BMI, HDL-cholesterol and WC was found in the hypertensive group. However, no associations of ?344T/C and IC polymorphisms were found with the risk of hypertension and clinical parameters. Based on these results, the K173R variant and haplotypes of the CYP11B2 gene might affect hypertension susceptibility.