Association of functional polymorphisms on MMP-12 and MMP-13 gene promoter region with epithelial ovarian carcinoma / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate whether the functional polymorphisms in the promoter region of MMP-12 (-82A/G) and MMP-13(-77A/G) are associated with epithelial ovarian carcinoma (EOC).</p><p><b>METHODS</b>The MMP-12 -82A/G and MMP-13 -77A/G were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 300 epithelial ovarian carcinoma patients and 300 control women.</p><p><b>RESULTS</b>The A/G genotype frequency of the MMP-12 gene was significantly higher in the patients than in the controls (P= 0.003); similarly, the frequency of MMP-12 -82G allele was higher in the patient group (P= 0.004). Compared with the A/A genotype, the A/G genotype carriers significantly increased the risk of EOC development (OR= 2.81, 95%CI 1.38-5.74). No overall association between the MMP-13 -77A/G polymorphism and EOC(P= 0.15) was observed. However, the A/A genotype carriers in the MMP-13 -77A/G locus had significantly higher risk of developing serous-papillary and mucinous ovarian cancer (OR= 1.93, 95% CI 1.05-3.53; OR= 5.16, 95% CI 1.62-16.44, respectively), comparing with the G/G genotype carriers. Combining the two SNPs, the haplotype distributions in patients were not significantly different from that in control women (P= 0.06).</p><p><b>CONCLUSION</b>These results suggested that individuals with MMP-12 -82A/G and MMP-13 -77A/A might have higher risk of overall or special histological type of EOC development.</p>