Investigating the effect of MMP-۱ gene and its rs۱۷۹۹۷۵۰ polymorphisms on endometriosis disease in an Iranian women population

Backgrounds: Endometriosis is clinically defined as the presence of endometrial-like tissuefound outside the uterus, resulting in a chronic, inflammatory reaction. It is a complex diseasethat is influenced by genetic and environmental factors. Recently several candidate genes haveimplicated in the pathogenesis of endometriosis, including genes involved in inflammation, cellcycle regulation and adhesion molecules. Matrix metalloproteinases (MMP) are a family ofproteolytic enzymes that can degrade extracellular matrix Components. Importantly, thesegroups of enzymes have been also implicated in the pathogenesis and diffusion of endometriosis.Materials and Methods: One hundred endometriosis patients and ۱۰۰ healthy controls wereenrolled in this study. DNA was extracted from whole blood samples. PCR-RFLP technique wasused to investigate the relationship between endometriosis and rs۱۷۹۹۷۵۰ [-/G] polymorphismon MMP-۱ gene in Iranian population.Results: Distribution of genotypes was not significantly different between case and controlgroups (p = ۰.۶۱۸). Frequencies of the --, -G and GG genotypes were ۳۲.۶%, ۴۴.۲%, ۲۳.۲% inpatients and ۳۵.۸%, ۴۶.۷%, ۱۷.۵% in controls, respectively.Conclusion: Our results provide no evidence of a relationship between the rs۱۷۹۹۷۵۰polymorphism and susceptibility to endometriosis in Iranian patients. However, these findingsshould be confirmed in studies with larger sample sizes.

کلیدواژه ها:

MMP-۱ gene ، rs۱۷۹۹۷۵۰ ، Endometriosis ، Polymorphism