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Haplotype analysis of the matrix metalloproteinase-9 gene associated with advanced-stage endometriosis

Title
Haplotype analysis of the matrix metalloproteinase-9 gene associated with advanced-stage endometriosis
Authors
Han Y.J.Kim H.-N.Yoon J.-K.Yi S.Y.Moon H.-S.Ahn J.J.Kim H.-L.Chung H.W.
Ewha Authors
김형래안정자정혜원이선영문혜성
SCOPUS Author ID
김형래scopus; 안정자scopus; 정혜원scopus; 이선영scopus; 문혜성scopus
Issue Date
2009
Journal Title
Fertility and Sterility
ISSN
0015-0282JCR Link
Citation
vol. 91, no. 6, pp. 2324 - 2330
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
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. © 2009 American Society for Reproductive Medicine.
DOI
10.1016/j.fertnstert.2008.03.047
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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