Evaluation of -1575 G/A and -735 C/T variants of matrix metalloproteinase-2 (MMP-2) gene in Iranian women with endometriosis

Background: Endometriosis is an estrogen-dependent inflammatory benign gynecological disease. Endometriosis has wide range of symptoms from asymptomatic to infertility. Pathogenesis of endometriosis is not clearly understood but there are some more accepted theories including retrograde menstruation, altered immunity, coelomic metaplasia and metastatic spread. Matrix metalloproteinases are zinc dependent proteolytic enzymes in which clear extracellular matrix. MMPs have controlling effects in major normal cellular functions and in tumor metastasis and invasion. Some MMPs level shows significant increase in endometriosis patients when compared with normal individuals. Overexpression of MMPs due to genetic polymorphisms in promoter region may be increase chance of endometriosis.Methods: In this study, relation of -735 C/T (rs2285053) and -1575 G/A (rs243866) variants of MMP-2 gene with relevance of endometriosis were investigated for the first time. The PCR-RFLP method was used for investigation of these variants in 100 endometriosis patients and 200 non-endometriosis samples from Iranian women. Total genomic DNA was extracted from blood samples and related DNA fragments were amplified using designated specific primers. Enzymatic digestion was performed using PagI and HinfI restriction enzymes for mentioned variants, respectively. Statistical analysis was ascertained using SPSS 16 software.Result: According to the results, in the 95% of confidence level (pConclusion: MMP-2 C-735T genotype may be associated with endometriosis in the Iranian population.

کلیدواژه ها:

Matrix metalloproteinase ، MMP-2 ، PCR-RFLP ، Polymorphism ، Endometriosis