The CYP1A1 and GSTM1 Genetic Polymorphisms and Susceptibility to Endometriosis in Women from South India

Background: Endometriosis is one of the most commonly encountered benign problems in gynaecology. It is frequently associated with chronic pelvic pain, dysmenorrhoea, menorrhagia and dyspareunia, which lead to infertility. We determined the possible association between CYP1A1 MspI and GSTM1 null polymorphism in the pathogenesis of endometriosis. Materials and Methods: Ninety seven cases of endometriosis diagnosed by laparoscopy and one hundred two women without endometriosis were laparoscopically confirmed. Genomic DNA of heparinised blood were collected and null gene polymorphisms in GSTM1 and CYP1A1 genes coding for detoxification enzymes were identified by the PCR-based restriction fragment length polymorphism (RFLP) method. Results: The GSTM1 null mutation showed significant association (p < 0.03) found between risk of endometriosis and GSTM1 null deletion with an odd ratio (OR) of 2.12, 95% CI: 1.04-4.31.The number of null genotype was more in stage III-IV cases compared to stage I-II. In contrast, we did not find significant association with the CYP1A1 MspI genotype. Conclusion: The study results suggest that women having high risk association with the GSTM1null polymorphism, but no association with the CYP1A1 MspI polymorphism for endometriosis in south Indian women.