The XRCC1 Arg399Gln gene polymorphism and risk of colorectal cancer: a study in Kashmir

• Published in: Asian Pacific journal of cancer prevention : APJCP Vol. 14; no. 11; pp. 6779 - 6782
• Main Authors: Khan, Nighat Parveen, Pandith, Arshad Ahmad, Yousuf, Adfar, Khan, Nuzhat Shaheen, Khan, Mosin Saleem, Bhat, Imtiyaz Ahmad, Nazir, Zahoor Wani, Wani, Khursheed Alam, Hussain, Mahboob Ul, Mudassar, Syed
• Format: Journal Article
• Language: English
• Published: Thailand 01.01.2013
• Subjects: Aged; Case-Control Studies; Colorectal Neoplasms - blood; Colorectal Neoplasms - etiology; Colorectal Neoplasms - pathology; DNA - blood; DNA - genetics; DNA-Binding Proteins - genetics; Female; Follow-Up Studies; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; Neoplasm Grading; Odds Ratio; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide - genetics; Prognosis; X-ray Repair Cross Complementing Protein 1
• ISSN: 1513-7368; 2476-762X
• DOI: 10.7314/APJCP.2013.14.11.6779

The DNA repair gene XRCC1 Arg399Gln gene polymorphism has been found to be implicated in the development of various cancers, including colorectal cancer (CRC), in different populations. We aimed to determine any association of this polymorphism with the risk of CRC in Kashmir. A total of 120 confirmed cases of CRC and 146 healthy cancer free controls from the Kashmiri population were included in this study. Genotyping was carried out by the polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method. Genotype frequencies of XRCC1 Arg399Gln observed in controls were 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 significant association of Arg399Gln SNP with any clinicopathological parameters of CRC was found. We found the protective role of 399Gln allele against risk to the development of CRC. The XRCC1 heterozygote status appears to be a strong risk factor for CRC development in the Kashmiri population.