Comparison of XRCC1Arg399Gln Polymorphism in Endometriosis and Healthy Women

Aim and XRCC1encods the protein involved in base excision repair (BER) system. Because of important role of XRCC1 gene, polymorphism in this gene could increase the risk of many neoplasms in human. We conducted a research project to find out the association between endometriosis with XRCC1polymorphism. In this cross sectional study 102 cases were enrolled. DNA was isolated from peripheral blood, and then genotyping of codon 399 of XRCC1 was carried using specific primers and RFLP method. Data from102 cases in an endometriosis group (n=52) and a control group (n=50) were analyzed and led to the following. the Arg399Gln polymorphism of XRCC1 gene was 76.9% in the endometriosis group compared with 28% in the control group (P=0.0001) with OR= 2.47 and 95% CI: 1.72–4.39 (for GG vs. GA+AA) using Fisher’s exact test. Allelic Frequency on the Endometriosis group was 57.69% for G and 42.31% for A allele; these rates for the control group were 86% and 14% for G and A alleles respectively (P=0.0001). we came to the conclusion that arginine to glutamine polymorphism of XRCC1 gene codon 399 is associated with an increase in the risk of endometriosis and obtained odd’s ratio indicates that people with this polymorphism have 2.47 times the risk of developing endometriosis compared to people without polymorphism.