Polymorphism of the DNA Repair Gene XRCC1 (Arg194Trp) and its role in Colorectal Cancer in Kashmiri Population: a Case Control Study


Background: Genetic polymorphisms in DNA repair genes may influence individual variation in DNArepair capacity, which may be associated with risk of developing cancer. For colorectal cancer the importanceof mutations in mismatch repair genes has been extensively documented. Materials and
Methods: In this studywe focused on the Arg194Trp polymorphism of the DNA repair gene XRCC1, involved in base excision repair(BER) and its role in colorectal cancer in Kashmiri population. A case-control study was conducted including100 cases of colorectal cancer, and 100 hospital-based age- and sex-matched healthy controls to examine the roleof XRCC1 genetic polymorphisms in the context of colorectal cancer risk for the Kashmiri population.
Results:Genotype analysis of XRCC1 Arg194Trp was conducted with a restriction fragment length polymorphism (RFLP)method. The overall association between the XRCC1 polymorphism and the CRC cases was found to be significant(p < 0.05) with both the heterozygous genotype (Arg/Trp) as well as homozygous variant genotype (Trp/Trp)being moderately associated with the elevated risk for CRC [OR=2.01 (95% CI=1.03-3.94) and OR=5.2(95%CI=1.42-19.5)] respectively.
Conclusions: Our results suggest an increased risk for CRC in individuals withXRCC1 Arg194Trp polymorphism suggesting BER repair pathway modulates the risk of developing colorectalcancer in the Kashmiri population.