title: Association between MMP-2 and TIMP-2 gene polymorphisms and advanced-stage endometriosis in Korean women.
abstract: OBJECTIVE
  To characterize the genetic variation across the MMP-2 and TIMP-2 gene with the risk of advanced-stage endometriosis.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Dong-A University School of Medicine, Pusan, South Korea.
authors.forename: Yeon Jean
authors.initials: YJ
authors.lastname: Cho
authors.forename: Nam Hee
authors.initials: NH
authors.lastname: Kim
authors.forename: Kyung-Ah
authors.initials: KA
authors.lastname: Jeong
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Hye-Sung
authors.initials: HS
authors.lastname: Moon
authors.forename: Hyung-Lae
authors.initials: HL
authors.lastname: Kim
authors.forename: Hye Won
authors.initials: HW
authors.lastname: Chung
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004715:Endometriosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D011110:Polymorphism, Genetic; D056910:Republic of Korea; D012306:Risk; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*
chemical_list: D019716:Tissue Inhibitor of Metalloproteinase-2; D020778:Matrix Metalloproteinase 2