Results
| PMID | 18554596 |
| Gene Name | MMP9 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | MMP-9 (-1562C>T, R279Q, P574R, and R668Q) |
| Population size | 423 |
| Population details | 423 (225 patients with endometriosis stage III/IV, 198 controls) |
| Sex | Female |
| Associated genes | MMP-9 |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2009 Jun;91(6):2324-30. doi: 10.1016/j.fertnstert.2008.03.047. Han, You Jung| Kim, Han-Na| Yoon, Jin-Kook| Yi, Sun Young| Moon, Hye-Sung| Ahn, Jung Ja| Kim, Hyung-Lae| Chung, Hye Won Department of Obstetrics and Gynecology, School of Medicine, Ewha Womans University, Seoul, South Korea. OBJECTIVE: To investigate whether the -1562C>T, R279Q, P574R, and R668Q polymorphisms of the matrix metalloproteinase-9 (MMP-9) gene are related to endometriosis. DESIGN: Case-control study. SETTING: University-based hospital in Korea. PATIENT(S): Patients with endometriosis stage III/IV (n = 225) who underwent pelvic surgery and controls (n = 198) with no endometriosis in a Korean population. INTERVENTION(S): Peripheral blood samples were collected by venipuncture. MAIN OUTCOME MEASURE(S): Frequencies of genotypes and haplotypes were compared with the risk of endometriosis including -1562C>T, R279Q, P574R, and R668Q polymorphisms of MMP-9. RESULT(S): In the two-locus haplotype analyses using the four single nucleotide polymorphisms (SNPs), an increase in the distribution of the R279Q/P574R (2678G>A/4859C>G) (AC haplotype: odds ratio [OR] = 3.180, 95% confidence interval [CI] = 1.956-5.170; GG haplotype: OR = 4.374, 95% CI = 2.376-8.053) and -1562C>T/R668Q (-1562C>T/5546G>A) (CA haplotype: OR = 3.280, 95% CI = 1.406-7.653) haplotypes was significantly associated with endometriosis. By contrast, the risk of endometriosis was not associated with the individual SNPs studied. CONCLUSION(S): These findings suggest that haplotype analysis was more informative than SNP analysis. The haplotypes in the MMP-9 gene may correlate with the progression of endometriosis, and further study of these variations might improve our understanding of the pathogenesis of endometriosis. Mesh Terms: Amino Acid Substitution| DNA Primers| Endometriosis/enzymology/*genetics/pathology/surgery| Endometrium/enzymology| Female| Gene Frequency| *Haplotypes| Humans| Matrix Metalloproteinase 9/*genetics| Polymerase Chain Reaction| *Polymorphism, Sing |
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