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基质金属蛋白酶 2 基因多态性与韩国人群肥胖有关。

Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population.

机构信息

Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul 130-701, Korea.

出版信息

Korean J Physiol Pharmacol. 2008 Jun;12(3):125-9. doi: 10.4196/kjpp.2008.12.3.125. Epub 2008 Jun 30.

Abstract

The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of matrix metallopeptidase 2 (MMP2) are associated with obesity. MMP2 is an enzyme with proteolytic activity against matrix and nonmatrix proteins, particularly basement membrane constituents. To identify the relationship between polymorphisms of MMP2 and overweight/obese, we genotyped 5 SNPs (rs17242319, rs1053605, rs243849, rs2287074, and rs10775332) of the coding region of MMP2 using the Golden Gate assay on an Illumina BeadStation 500 GX. One hundred and forty two overweight/obese (BMI >/=23) and 145 normal (BMI 18 to <23) subjects were analyzed. SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs were used for the analysis of genetic data. A linkage disequilibrium (LD) block was discovered among the 5 SNPs selected, including rs17242319, rs1053605, rs243849, and rs2287074. Of the 5 polymorphisms, 2 synonymous SNPs [rs17242319 (Gly226Gly) and rs10775332 (Phe602Phe)] were found significant associations with overweight/obese. Recently, rs1132896 replaced rs17242319 as a new number (SNP database, BUILD 129). In haplotype analysis using Haploview, a haplotype (haplotype: CCCA) containing a meaningful polymorphism (rs17242319) was found to be significantly different. The results suggest that MMP2 may be associated with overweight/obese in Korean population.

摘要

本研究旨在确定基质金属蛋白酶 2(MMP2)的单核苷酸多态性(SNP)是否与肥胖有关。MMP2 是一种具有蛋白水解活性的酶,可针对基质和非基质蛋白,特别是基底膜成分。为了确定 MMP2 多态性与超重/肥胖的关系,我们使用 Golden Gate assay 技术在 Illumina BeadStation 500 GX 上对 MMP2 编码区的 5 个 SNP(rs17242319、rs1053605、rs243849、rs2287074 和 rs10775332)进行了基因分型。分析了 142 名超重/肥胖(BMI≥23)和 145 名正常体重(BMI 18 至<23)受试者。使用 SNPStats、Haploview、HapAnalyzer、SNPAnalyzer 和 Helixtree 程序对遗传数据进行分析。在所选的 5 个 SNP 中发现了一个连锁不平衡(LD)块,包括 rs17242319、rs1053605、rs243849 和 rs2287074。在这 5 种多态性中,发现 2 个同义 SNP [rs17242319(Gly226Gly)和 rs10775332(Phe602Phe)]与超重/肥胖显著相关。最近,rs1132896 取代 rs17242319 成为新的编号(SNP 数据库,BUILD 129)。在使用 Haploview 的单体型分析中,发现一个含有有意义多态性(rs17242319)的单体型(单体型:CCCA)存在显著差异。结果表明,MMP2 可能与韩国人群中的超重/肥胖有关。

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