Arg399Gln Polymorphism of the XRCC1 Gene is Associated with Coronary Artery Disease in a Turkish Population

Abstract

Objective: Coronary artery disease, the leading cause of morbidity and mortality worldwide, is an inflammatory disease. The X-ray repair cross complementing 1 (XRCC1) gene plays the role of scaffolding protein for the base excision repair (BER) and single strand break (SSB) repair. Methods: The study population consisted of 402 participants living in the same region and classified into case group (n = 201) and control group (n = 201). Phenol-chloroform method was used to extract DNA from blood samples of the study participants. The X-ray repair cross complementing 1 genotypes were determined using polymerase chain reaction-restriction/ fragment length polymorphism (PCR/RFLP) methods. Results: No statistically significant difference was found between the study groups in terms of allele and genotype frequencies in XRCC1 Arg194Trp polymorphism. However, distribution of XRCC1 399Gln allele frequency was found to differ at a statistically significant level between the case and the control groups (p = 0.003; OR = 1.56). Regarding the Arg/Arg genotype in Arg399Gln polymorphism, a statistically significant difference was detected in the distribution of Gln/Gln genotype (p = 0.017; adj OR = 3.11). Statistically significant differences were also recorded for Arg399Gln polymorphism among the smoking male participants with hypertension (p = 0.009;p = 0.031;p = 0.032, respectively). Conclusion: The study suggests that XRCC1 399Gln/Gln genotype may be a significant risk factor for coronary artery disease.