Association Between MMP-2 and TIMP-2 Gene Polymorphisms and Advanced-Stage Endometriosis in Korean Women

作者：Cho Yeon Jean; Kim Nam Hee; Jeong Kyung Ah; Lee Ji Young; Moon Hye Sung; Kim Hyung Lae; Chung Hye Won^*

来源：American Journal of Reproductive Immunology, 2013, 69(1): 73-84.

DOI：10.1111/aji.12020

• Endometriosis
• haplotype
• MMP-2
• single-nucleotide polymorphism
• TIMP-2

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%26gt;G, 9152A%26gt;G, 105330C%26gt;T, 14931T%26gt;C, 15918T%26gt;C, 18796G%26gt;A, 19033G%26gt;A, 19218A%26gt;G, 25190A%26gt;G, and 28542C%26gt;T) and TMIP-2 gene (42138327C%26gt;T, 42141169G%26gt;A, 42144611A%26gt;G, 42152781C%26gt;T, 42155855G%26gt;A, 42175617C%26gt;T, 42181597G%26gt;A, 42183387T%26gt;C, 42196041G%26gt;C, and 42196430T%26gt;C) were examined in 201 patients and 183 controls. Results In MMP-2, G/A haplotype of 9082A%26gt;G and 9152A%26gt;G in intron 2 was associated with a reduced risk of endometriosis (OR 0.7, 95% CI 0.51.0, P = 0.04). In TIMP-2, the CC genotype of 42196430T%26gt;C and C/C haplotype of 42196041G%26gt;C/42196430T%26gt;C in the promoter region showed an increased risk of endometriosis (OR 3.0, 95% CI 1.28.0, P = 0.02; OR 1.6, 95% CI 1.12.4, P = 0.02), and the CC genotype of 42183387T%26gt;C and the C/G/C haplotype of 42175617C%26gt;T/42181597G%26gt;A/42183387T%26gt;C in intron 1 were associated with a reduced risk (OR 0.5, 95% CI 0.30.97, P = 0.04; OR 0.6, 95% CI 0.40.95, 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.

• 出版日期2013-1