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.