Association of <i>MMP7</i> (−181A &gt; G) promoter polymorphism with endometriosis in Eastern Indian women

Introduction: Matrix metalloproteinase-7 (MMP7) regulates pathogenesis of endometriosis by promoting cellular invasion and extracellular matrix remodeling. The present study aimed to understand whether single nucleotide polymorphism (SNP) of MMP7 promoter region at −181A/G can be a risk factor for development of endometriosis in eastern Indian population. Methods: The case-control cohort included 130 women with endometriosis and 130 women without endometriosis from East Indian population. Polymorphism of MMP7 (rs11568818) at −181A/G was genotyped by polymerase chain reaction-restriction enzyme length polymorphism. Results: Our study did not identify MMP7 −181A &gt; G promoter polymorphism as a risk factor for increased incidences of endometriosis. However, endometriosis patients having AG and AG + GG (pooled) genotypes showed increased susceptibility for developing severe endometriosis ( p = 0.0485, OR: 2.864, 95% CI: 0.979–8.372 and p = 0.0428 OR: 2.848, 95% CI: 1.010–8.031 respectively) as compared to AA genotype. Endometriosis patients with GG genotype have faster disease development (5.65 ± 4.40 years, p = 0.0215) as compared to the endometriosis patients with AA genotype (8.71 ± 5.25 years). Conclusions: Promoter polymorphism of MMP7 (−181A &gt; G) is not a risk factor for increased incidences of endometriosis in eastern Indian women. However, endometriosis patients with MMP7 -181G genotypes are susceptible to faster disease progression and developing severe endometriosis.