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

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

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

Dong Hee Han et al. Korean J Physiol Pharmacol. 2008 Jun.

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.

Keywords: Body mass index; Linkage disequilibrium; Matrix metallopeptidase 2; Obesity; Single nucleotide polymorphism.

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Figures

Fig. 1
Fig. 1
Gene map and linkage disequilibrium (LD) in matrix metallopeptidase 2 (MMP2) gene. (A) Gene map of single nucleotide polymorphisms (SNPs) in MMP2 on chromosome 16. Exons are marked with box. The coding region is black-boxed and untranslation regions are white-boxed. Asterisk (*) indicates a significant SNP. Arrow indicates the location of each SNP. EX, exon. (B) LD coefficient (|D'|) and LD blocks among SNPs of MMP2. Block 1 consists of rs17242319, rs1053605, rs243849, and rs2287074.

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