A promoter polymorphism (-77T>C) of DNA repair gene XRCC1 is associated with risk of lung cancer in relation to tobacco smoking

Pharmacogenet Genomics. 2005 Jul;15(7):457-63. doi: 10.1097/01.fpc.0000167329.85163.0d.

Abstract

X-ray repair cross complementing group 1 (XRCC1) is one of the major DNA repair proteins involved in the base-excision repair pathway. Functional Polymorphisms in the XRCC1 gene may lead to decreased DNA repair capacity and thus confer inherited predisposition to cancer risk. In this case-control study of 710 patients with incident lung cancer and 710 cancer-free controls who were frequency matched on age, sex and residential area, we genotyped a novel T>C transition at the promoter region (-77T>C) of XRCC1 and other two common non-synonymous polymorphisms (Arg194Trp and Arg399Gln) to determine their associations with risk of lung cancer. We found that compared with the -77TT wild-type homozygote, the variant genotypes were associated with significantly increased risk of lung cancer [adjusted odds ratio (OR)=1.51; 95% confidence interval (CI)=1.17-1.94 for -77TC; OR=2.98; 95% CI=0.93-9.59 for -77CC; and OR=1.55; 95% CI=1.21-1.98 for -77TC/CC]. By contrast, no significant associations were observed between the other two exonic variants (Arg194Trp and Arg399Gln) and lung cancer risk. Furthermore, we observed a 9.82-fold increased risk (95% CI=5.66-17.02) for heavy smokers carrying the -77C variant (-77TC/CC) and a 4.07-fold increased risk (95% CI=2.85-5.81) for heavy smokers not carrying the variant. However, the interaction between the -77T>C variant and cumulative smoking was not statistically significant (P=0.1560). These findings indicate that the new XRCC1 -77T>C polymorphism may contribute to the aetiology of lung cancer. Further functional studies are warranted to elucidate the underlying molecular mechanisms of the association.

Publication types

  • Comparative Study
  • Multicenter Study

MeSH terms

  • Adenocarcinoma / genetics
  • Age Distribution
  • Alleles
  • Carcinoma, Small Cell / genetics
  • Carcinoma, Squamous Cell / genetics
  • Case-Control Studies
  • DNA Repair*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Lung Neoplasms / epidemiology
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length
  • Promoter Regions, Genetic / genetics*
  • Risk Factors
  • Smoking / epidemiology
  • Smoking / genetics*
  • X-ray Repair Cross Complementing Protein 1

Substances

  • DNA-Binding Proteins
  • X-ray Repair Cross Complementing Protein 1
  • XRCC1 protein, human