title: Association ofCYP11B2polymorphisms with metabolic syndrome patients.
abstract: 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 thatCYP11B2genetic polymorphisms play a role in metabolic syndrome (MetS). Therefore, we investigated the associations of threeCYP11B2polymorphisms [-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 assessCYP11B2polymorphisms. TheCYP11B2-344T>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 theCYP11B2gene potentially affect MetS susceptibility. These findings remain to be confirmed in various ethnic populations with a larger sample size.
authors: Department of Laboratory Medicine, School of Medicine, Jeju National University, Jeju 690-756, Republic of Korea.
authors: Young Ree
authors: YR
authors: Kim
authors: Department of Laboratory Medicine, School of Medicine, Jeju National University, Jeju 690-756, Republic of Korea.
authors: Sun Hyung
authors: SH
authors: Kim
authors: Department of Laboratory Medicine, School of Medicine, Jeju National University, Jeju 690-756, Republic of Korea.
authors: Sung Ha
authors: SH
authors: Kang
authors: Department of Family Medicine, School of Medicine, Jeju National University, Jeju 690-756, Republic of Korea.
authors: Hyun Ju
authors: HJ
authors: Kim
authors: Department of Family Medicine, School of Medicine, Jeju National University, Jeju 690-756, Republic of Korea.
authors: Mi Hee
authors: MH
authors: Kong
authors: Department of Science Education, Teachers College, Jeju National University, Jeju 690-781, Republic of Korea.
authors: Seung Ho
authors: SH
authors: Hong
keywords: CYP11B2; metabolic syndrome; polymorphism