CYP1A1 and GSTM1 genes polymorphism and its association with endometriosis : A pilot study

ObjectiveTo study the genetic association between Cytochrome P450 family 1 (CYP1A1) T6235C polymorphism and glutathione S-transferase M1 (GSTM1) null mutations and endometriosis.MethodsA total of 121 unrelated women having complaints of pelvic pain, dysmenorrhea, dysuria, dyschezia, dysparenuia and infertility were enrolled. Out of these 71 consented for laparoscopy, 66 were diagnosed as endometriosis as per operative. Genomic DNA isolated from endometriosis patients and controls were subjected to polymerase chain reactions to determine the GSTM1 null genotypes whereas polymorphism of CYP1A1 T6235C was determined through PCR-RFLP.ResultsThe GSTM1 null genotype was found to be associated with endometriosis however there was no significant difference in the frequencies of the CYP1A1 6235 CC genotype between endometriosis patients and controls. The homozygous mutant and allele frequency of CYP1A1 T6235C differed significantly between patients having endometriosis and healthy control.ConclusionThe data of the present study clearly suggests that GSTM1 null allele and CYP1A1 C allele is a genetic risk factor for endometriosis in North Indian population.