Comparative study of Arg399Gln polymorphism of XRCC1 gene in Endometriosis and healthy women

Background &Aims: X-ray repair cross complementing group 1 (XRCC1) is the protein, thatencodes protein involved in base excision repair (BER) system. Because of important role ofXRCC1 gene in base excision repair pathway, polymorphism in this gene could increase therisk of many neoplasms in human. We conducted a research project to find out theassociation between endometriosis with XRCC1 polymorphism among Sarem hospitalpatients.Methods: In this cross sectional study; 120 cases were enrolled. DNA was isolated fromblood and tissue samples and then genotyping of codon 399 of XRCC1 with using specificprimers and restriction enzyme length polymorphism (RFLP) method was carried out.Results: Data from102 cases in endometriosis (n=52) and control (n=50) groups wereanalyzed & led to this results that; theArg399Gln polymorphism of XRCC1 gene (A/A andG/A genotype that have polymorphism in 399 codon of this gene) was 76.9% inendometriosis group compared with 14% in control group (P=0.0001), with OR= 2.47, 95%CI: 1.72–4.39 (for GG vs. GA+AA) by Fisher’s exact test. Allelic Frequency onEndometriosis group was 57.69% for G & 42.31% for A allel; this rates for the controlgroup was 86% & 14% for G & A allels respectively (P=0.0001).

کلیدواژه ها:

XRCC1 ، Arg399Gln polymorphism ، Endometriosis ، PCR-RFLP