Association of MMP-2(rs7201) and MMP-9(rs17576) genetic polymorphisms with the risk of endometriosis

Introduction: Endometriosis (EMS) is a female reproductive system disease in which uterine-like cells grow in other areas of the body and outside the uterus. Matrix metalloproteinases (MMPs) play a major role in the degradation of the extracellular matrix and the pathogenesis of endometriosis. The present study is the first to investigate the possible association of MMP-2 (rs7201) and MMP-9 (rs17576) genetic variants with susceptibility to EMS in Iran. Material & Methods: This case-control study was performed on 100 healthy control women and 100 patients with EMS. The MMP-2 and MMP-9 genotypes were determined using the Tetra amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR) Technique. Data were analyzed in SPSS software. Results: There were statistically significant differences in the distribution of MMP-9 AG (OR: 4.11, 95% CI: 2.13-7.91, P<0.001) and GG (OR: 11.33, 95% CI: 4.23-30.3; P <0.001) genotypes between the control and patient groups. The MMP-9 G allele was associated with an increased risk of endometriosis (P<0.001). Moreover, a significant association was detected between MMP-2 rs7201 polymorphism and EMS. MMP-2 AC genotype had a protective effect on endometriosis (OR: 0.27. 95% CI: 0.15-49%; P<0.001), and the MMP-2 A allele was associated with decreased risk of endometriosis (P<0.001). Discussion & Conclusion: As evidenced by the results of this study, MMP-9 rs17576 and MMP-2 rs7201 polymorphisms were associated with EMS in the studied population in Iran. Further studies with larger samples of different ethnicities need to confirm these results