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Association Between MMP‐2 and TIMP‐2 Gene Polymorphisms and Advanced‐Stage Endometriosis in K orean Women
Author(s) -
Cho Yeon Jean,
Kim Nam Hee,
Jeong KyungAh,
Lee Ji Young,
Moon HyeSung,
Kim HyungLae,
Chung Hye Won
Publication year - 2013
Publication title -
american journal of reproductive immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.071
H-Index - 97
eISSN - 1600-0897
pISSN - 1046-7408
DOI - 10.1111/aji.12020
Subject(s) - haplotype , single nucleotide polymorphism , genotype , medicine , biology , microbiology and biotechnology , endocrinology , gene , genetics
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 ( SNP s) and haplotype associations between MMP‐2 (9082 A > G , 9152 A > G , 105330 C > T , 14931 T > C , 15918 T > C , 18796 G > A , 19033 G > A , 19218 A > G , 25190 A > G , and 28542 C > T ) and TMIP‐2 gene (42138327 C > T , 42141169 G > A , 42144611 A > G , 42152781 C > T , 42155855 G > A , 42175617 C > T , 42181597 G > A , 42183387 T > C , 42196041 G > C , and 42196430 T > C ) were examined in 201 patients and 183 controls. Results In MMP‐2 , G / A haplotype of 9082 A > G and 9152 A > 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 42196430 T > C and C / C haplotype of 42196041 G > 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 42183387 T > C and the C / G / C haplotype of 42175617 C > T /42181597 G >A/42183387 T > 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.