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

Oleh:

You, Jung Han ; Han-Na, Kim

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 91 no. 06 (Jun. 2009), page 2324-2330 .
Topik: MMP-9; endometriosis; single nucleotide polymorphism; haplotype

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2009.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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