The XRCC1 Arg399Gln Gene Polymorphism and Risk of Colorectal Cancer: a Study in Kashmir

Abstract

<b>Background:</b> The DNA repair gene XRCC1 Arg399Gln gene polymorphism has been found to be implicatedin the development of various cancers, including colorectal cancer (CRC), in different populations. We aimedto determine any association of this polymorphism with the risk of CRC in Kashmir. Materials and <br/><b>Methods</b>:A total of 120 confirmed cases of CRC and 146 healthy cancer free controls from the Kashmiri population wereincluded in this study. Genotyping was carried out by the polymerase chain reaction- restriction fragment lengthpolymorphism (PCR-RFLP) method. <br/><b>Results</b>: Genotype frequencies of XRCC1 Arg399Gln observed in controlswere 34.2%, 42.5% and 23.3% for GG (Arg/Arg), GA (Arg/Gln), AA( Gln/Gln), respectively, and 28.3%, 66.7%and 5% in cases, with an odds ratio (OR)=5.7 and 95% confidence interval (CI) =2.3-14.1 (p=0.0001). No significantassociation of Arg399Gln SNP with any clinicopathological parameters of CRC was found. <br/><b>Conclusions</b>: Wefound the protective role of 399Gln allele against risk to the development of CRC. The XRCC1 heterozygotestatus appears to be a strong risk factor for CRC development in the Kashmiri population.