Association of Arg194Trp, Arg280His and Arg399Gln polymorphisms in X-ray repair cross-complementing group 1 gene and risk of differentiated thyroid carcinoma in Iran

Iran Biomed J. 2011;15(3):73-8.


Background: X-ray repair cross-complementing group 1 (XRCC1) gene is a DNA repair gene and its non-synonymous single nucleotide polymorphisms (SNP) may influence DNA repair capacity which has been considered as a modifying risk factor for cancer development.

Methods: A case-control study was conducted to investigate impact of three frequently studied polymorphisms (Arg194Trp, Arg280His and Arg399Gln) on developing differentiated thyroid carcinoma (DTC).

Results: Increased risks for DTC were shown in homozygous (odds ratio [OR]: 3.66, 95% confidence interval [CI]: 0.38-35.60) and in dominant trait (OR: 1.22, 95% CI: 1.64-2.32) of Arg194Trp genotype. Also, for Arg280His genotype, an increased risk for DTC was shown in dominant trait (OR: 1.42, 95% confidence interval [CI]: 0.76-2.68), while a mildly reduction of risk for DTC (OR: 0.77, 95% [CI]: 0.50-1.17) was estimated in dominant Gln genotype of Arg399Gln. Considering combinatory effects of Arg194Trp and Arg280His genotypes on DTC, the calculated OR and 95% CI for being heterozygous for one of Arg194Trp or Arg280His genotypes were 1.57 and 0.90-2.74, respectively.

Conclusion: Genotyping of codons 194, 280 and 399 in XRCC1 gene may use in risk assessment of DTC.

Keywords: Endocrine related cancer; DNA repair gene; X-ray repair cross-complementing group 1; Differentiated thyroid carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine / genetics
  • Base Sequence
  • Case-Control Studies
  • Cell Differentiation*
  • DNA Primers
  • Female
  • Genetic Complementation Test*
  • Glycine / genetics
  • Histidine / genetics
  • Humans
  • Iran / epidemiology
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Thyroid Neoplasms / epidemiology*
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / pathology
  • Tryptophan / genetics


  • DNA Primers
  • Histidine
  • Tryptophan
  • Arginine
  • Glycine