Role of XPG Gene Polymorphism towards Colorectal Cancer Susceptibility: A Case Control Study

XPG protein is a crucial component of the nucleotide excision repair pathway. Various single nucleotide polymorphisms of XPG gene have been reported to modulate colorectal cancer susceptibility. Therefore, this case control study evaluated the association of XPG (rs1 047 768 T>C) polymorphism with risk of colorectal cancer. In this study total 175 individuals comprising of age matched one hundred pathologically confirmed colorectal cancer cases and seventy-five controls were genotyped for XPG (rs1 047 768 T>C) polymorphism. Genotyping was accomplished with “Tetra amplification-refractory mutation system (ARMS) PCR” and PCR products were electrophoretically resolved on agarose gel. To validate the results 10% samples were re-analysed for XPG genotyping. Demographic factors were represented by mean ± SD. Multivariate logistic regression analysis was applied to compute odds ratio and confidence interval considering association between genotypes, demographic factors and colorectal cancer risk. Results were computed by MedCalc and SPSS version 24. Results showed significant association of XPG rs1 047 768—T>C genotype (OR: 7.51, CI: 1.63–35.02) and increased risk of colorectal cancer. Additionally, smoking and family history were significant contributors in colorectal cancer development. In summary, XPG (rs1 047 768 T>C) polymorphism is a low susceptibility penetrance gene for colorectal cancer and has never been screened before in Pakistani population.