Open AccessAssociation of CYP11B2 polymorphisms with metabolic syndrome patients
Author(s) -
Young Ree Kim,
Sun Hyung Kim,
Sung Ha Kang,
Hyun Ju Kim,
Mi Hee Kong,
Seung Ho Hong
Publication year - 2014
Publication title -
biomedical reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.607
H-Index - 25
eISSN - 2049-9442
pISSN - 2049-9434
DOI - 10.3892/br.2014.316
Subject(s) - aldosterone synthase , haplotype , biology , genotype , genetics , allele , medicine , metabolic syndrome , restriction fragment length polymorphism , polymorphism (computer science) , endocrinology , diabetes mellitus , gene , blood pressure , renin–angiotensin system
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.