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Polymorphisms in the matrix metalloproteinase‐2 and tissue inhibitor of metalloproteinase‐2 and the risk of human adenomyosis
Author(s) -
Kang Shan,
Zhao Xiwa,
Xing Huimin,
Wang Na,
Zhou Rongmiao,
Chen Shucheng,
Li Wansheng,
Zhao Jian,
Duan Yanan,
Sun Donglan,
Li Yan
Publication year - 2008
Publication title -
environmental and molecular mutagenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 87
eISSN - 1098-2280
pISSN - 0893-6692
DOI - 10.1002/em.20375
Subject(s) - genotype , single nucleotide polymorphism , haplotype , linkage disequilibrium , adenomyosis , restriction fragment length polymorphism , biology , allele , allele frequency , odds ratio , medicine , genetics , genotype frequency , microbiology and biotechnology , gastroenterology , gene , uterus
The matrix metalloproteinases ( MMPs ) and tissue inhibitor of metalloproteinases ( TIMPs ) may contribute to the development of adenomyosis. The aim of the present study was to investigate whether three single nucleotide polymorphisms (SNPs) in the promoter regions of MMP‐2 (−1306 C/T and −735 C/T ) and TIMP‐2 (‐ 418G/C ) genes were related to the risk of adenomyosis development. Genotypes were determined by polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) assay in 180 adenomyosis patients and 324 frequency‐matched control women in a Chinese population. There were significant differences in allele frequencies and genotype distributions of the MMP‐2 −1306 C/T polymorphism between patients and control women ( P = 0.01 and 0.04, respectively). The frequency of C allele in patients (92.2%) was significantly higher than in the controls (87.0%) ( P = 0.01). Compared with the C/T+T/T genotypes, the C/C genotype could significantly increase the risk of adenomyosis development, with an odds ratio of 1.83 (95% CI = 1.13–2.96). However, no statistically significant difference was found in allele frequencies and genotype distributions of MMP‐2 −735 C/T and TIMP‐2 −418 G/C SNPs between the two groups (all P values > 0.05). Two polymorphisms of MMP‐2 displayed linkage disequilibrium ( D ′ = 0.74). The haplotype analysis suggested no significant association of four haplotypes with the risk of adenomyosis development. Our results indicated an association of MMP‐2 −1306 C/T polymorphism with the risk of adenomyosis, suggesting a potential role in adenomyosis development in North Chinese women. Environ. Mol. Mutagen. 2008. © 2008 Wiley‐Liss, Inc.