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

  • Khan, Nighat Parveen (Biochemistry Department, University of Kashmir) ;
  • Pandith, Arshad Ahmad (Immunology and Molecular Medicine Department, University of Kashmir) ;
  • Yousuf, Adfar (Biochemistry Department, University of Kashmir) ;
  • Khan, Nuzhat Shaheen (Biochemistry Department, University of Kashmir) ;
  • Khan, Mosin Saleem (Biochemistry Department, University of Kashmir) ;
  • Bhat, Imtiyaz Ahmad (Immunology and Molecular Medicine Department, University of Kashmir) ;
  • Nazir, Zahoor Wani (Biochemistry Department, University of Kashmir) ;
  • Wani, Khursheed Alam (Surgery Department, Sher-I-Kashmir Institute of Medical Sciences, University of Kashmir) ;
  • Hussain, Mahboob Ul (Biotechnology Department, University of Kashmir) ;
  • Mudassar, Syed (Biochemistry Department, University of Kashmir)
  • Published : 2013.11.30


Background: 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. Materials and Methods: 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. Results: 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. Conclusions: 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.


X-ray cross complementing gene;SNP;DNA repair;colorectal cancer;Kashmiri population


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