Results
| PMID | 22985025 |
| Gene Name | TIMP2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | 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 4219643 |
| Population size | 384 |
| Population details | 384 (201 patients, 183 controls) |
| Sex | Female |
| Associated genes | MMP-2, TIMP-2 |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2013 Jan;69(1):73-84. doi: 10.1111/aji.12020. Epub 2012 Sep Cho, Yeon Jean| Kim, Nam Hee| Jeong, Kyung-Ah| Lee, Ji Young| Moon, Hye-Sung| Kim, Hyung-Lae| Chung, Hye Won Department of Obstetrics and Gynecology, Dong-A University School of Medicine, Pusan, South Korea. 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. Mesh Terms: Adult| DNA Mutational Analysis| Disease Progression| Endometriosis/*genetics/pathology| Female| Gene Frequency| Genetic Association Studies| Genotype| Humans| Matrix Metalloproteinase 2/*genetics| Polymorphism, Genetic| Republic of Korea| Risk |
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