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

Objective Coroner artery disease, the leading cause of morbidity and mortality worldwide, is an inflammatory disease. XRCC1 gene is playing 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, 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. XRCC1 genotypes were determined using 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 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.