Association between MMP-2 and TIMP-2 gene polymorphisms and advanced-stage endometriosis in Korean women

Cho YJ, Yeon Jean Cho, Nam Hee Kim, Kim NH, Kyung-Ah Jeong, Jeong KA, Kyungah Jeong, Lee JY, Ji Young Lee, Hye-Sung Moon, Hye‐Sung Moon, Moon HS, Kim HL, Hyung-Lae Kim, Hyung‐Lae Kim, Hye Won Chung, Chung HW
American journal of reproductive immunology (New York, N.Y. : 1989) · 2012 · vol. 69(1) , pp. 73–84 · doi:10.1111/aji.12020 · PMID:22985025 · W2080235768
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This study examined MMP-2 and TIMP-2 gene polymorphisms in Korean women and found specific haplotypes and genotypes associated with either increased or reduced risk of advanced-stage endometriosis.

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Abstract

PROBLEM: To characterize the genetic variation across the MMP-2 and TIMP-2 gene with the risk of advanced-stage endometriosis. METHOD OF STUDY: Ten single-nucleotide polymorphisms (SNPs) and haplotype associations between MMP-2 (9082A>G, 9152A>G, 105330C>T, 14931T>C, 15918T>C, 18796G>A, 19033G>A, 19218A>G, 25190A>G, and 28542C>T) and TMIP-2 gene (42138327C>T, 42141169G>A, 42144611A>G, 42152781C>T, 42155855G>A, 42175617C>T, 42181597G>A, 42183387T>C, 42196041G>C, and 42196430T>C) were examined in 201 patients and 183 controls. RESULTS: In MMP-2, G/A haplotype of 9082A>G and 9152A>G in intron 2 was associated with a reduced risk of endometriosis (OR 0.7, 95% CI 0.5-1.0, P = 0.04). In TIMP-2, the CC genotype of 42196430T>C and C/C haplotype of 42196041G>C/42196430T>C in the promoter region showed an increased risk of endometriosis (OR 3.0, 95% CI 1.2-8.0, P = 0.02; OR 1.6, 95% CI 1.1-2.4, P = 0.02), and the CC genotype of 42183387T>C and the C/G/C haplotype of 42175617C>T/42181597G>A/42183387T>C in intron 1 were associated with a reduced risk (OR 0.5, 95% CI 0.3-0.97, P = 0.04; OR 0.6, 95% CI 0.4-0.95, P = 0.03). CONCLUSION: The MMP-2 and TIMP-2 polymorphisms are associated with advanced-stage endometriosis. Especially, the risk of endometriosis was different according to the genetic position in the TIMP-2 gene.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Matrix Metalloproteinase 2 Tissue Inhibitor of Metalloproteinase-2 Adult Adult Disease Progression Disease Progression DNA Mutational Analysis DNA Mutational Analysis Endometriosis Endometriosis Endometriosis Female Female Gene Frequency Gene Frequency Genetic Association Studies Genetic Association Studies Genotype Genotype

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