Polymorphisms in the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 and the risk of human adenomyosis

Shan Kang, Kang S, Xiwa Zhao, Zhao X, Xing H, Huimin Xing, Wang N, Na Wang, Zhou R, Rong‐Miao Zhou, Rongmiao Zhou, Shu‐Cheng Chen, Chen S, Shucheng Chen, Li W, Wansheng Li, Jian Zhao, Zhao J, Yanan Duan, Duan Y, Dong‐Lan Sun, Sun D, Donglan Sun, Dong-lan Sun, Yan Li, Li Y
Environmental and molecular mutagenesis · 2008 · vol. 49(3) , pp. 226–231 · doi:10.1002/em.20375 · PMID:18288718 · W2171924465
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The MMP-2 -1306C/T polymorphism, but not MMP-2 -735C/T or TIMP-2 -418G/C, was associated with an increased risk of adenomyosis development in a Chinese population.

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Abstract

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 (-1306C/T and -735C/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 -1306C/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 -735C/T and TIMP-2 -418G/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 -1306C/T polymorphism with the risk of adenomyosis, suggesting a potential role in adenomyosis development in North Chinese women.

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Condition tags

endometriosisadenomyosis

MeSH descriptors

Endometriosis Matrix Metalloproteinase 2 Tissue Inhibitor of Metalloproteinase-2 Uterine Diseases Adult Adult Asian People Asian People Asian People Case-Control Studies Case-Control Studies China China China Endometriosis Endometriosis Endometriosis Female Female Genotype

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