Association of CYP11B2 polymorphisms with metabolic syndrome patients.

Aldosterone synthase is a key enzyme in aldosterone production. Polymorphisms of the aldosterone synthase gene, CYP11B2, have been suggested to be involved in the pathogenesis of diabetes mellitus (DM), hypertension and cardiovascular diseases. In the light of these findings, we hypothesized that CYP11B2 genetic polymorphisms play a role in metabolic syndrome (MetS). Therefore, we investigated the associations of three CYP11B2 polymorphisms [-344T>C, K173R and intron 2 conversion (IC)] with Korean MetS patients. In total, 640 subjects comprising 320 cases and 320 control individuals) were included in the present study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques were used to assess CYP11B2 polymorphisms. The CYP11B2 -344T>C, K173R and IC polymorphisms did not exhibit a significant difference in the genotype and allele frequencies between the MetS and control groups. However, the -344T>C polymorphism in males and haplotypes comprising the three polymorphisms were associated with susceptibility to MetS. Thus, the pattern of haplotype associations was gender-specific. Based on these results, the -344T>C polymorphism in males and haplotypes of the CYP11B2 gene potentially affect MetS susceptibility. These findings remain to be confirmed in various ethnic populations with a larger sample size.