title: The XRCC1 Arg399Gln gene polymorphism and risk of colorectal cancer: a study in Kashmir.
abstract: 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.
  
  
  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.
authors.affiliation: Biochemistry Department, Sher-I-Kashmir Institute of Medical Sciences, Kashmir, India E-mail : parveennighat24@gmail.com.
authors.forename: Nighat Parveen
authors.initials: NP
authors.lastname: Khan
authors.forename: Arshad Ahmad
authors.initials: AA
authors.lastname: Pandith
authors.forename: Adfar
authors.initials: A
authors.lastname: Yousuf
authors.forename: Nuzhat Shaheen
authors.initials: NS
authors.lastname: Khan
authors.forename: Mosin Saleem
authors.initials: MS
authors.lastname: Khan
authors.forename: Imtiyaz Ahmad
authors.initials: IA
authors.lastname: Bhat
authors.forename: Zahoor Wani
authors.initials: ZW
authors.lastname: Nazir
authors.forename: Khursheed Alam
authors.initials: KA
authors.lastname: Wani
authors.forename: Mahboob Ul
authors.initials: MU
authors.lastname: Hussain
authors.forename: Syed
authors.initials: S
authors.lastname: Mudassar
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000097:blood / Q000209:etiology* / Q000473:pathology; D004247:DNA / Q000097:blood / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D060787:Neoplasm Grading; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; D004247:DNA