The Ku70 -1310C/G promoter polymorphism is associated with breast cancer susceptibility in Chinese Han population

Mol Biol Rep. 2012 Jan;39(1):577-83. doi: 10.1007/s11033-011-0773-7. Epub 2011 May 10.


Ku70 plays an important role in the DSBR (DNA double-strand breaks repair) and maintenance of genomic integrity. Genetic variations within human Ku70 have been demonstrated to be associated with increased risk of several types of cancers. In this hospital-based case-control study, we aimed to investigate whether a single nucleotide polymorphism (SNP) in the promoter region (rs2267437) of Ku70 gene is associated with susceptibility to breast cancer in Chinese Han population. A total of 293 patients with breast cancer and 301 age-matched healthy controls were enrolled in this study. The Ku70 -1310C/G polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. A significant difference in genotype distribution and allele frequency was observed between patients and controls. The CG or GG carries were at higher risk of breast cancer compared with the CC homozygotes (OR=1.43, 95% CI=1.02-2.00, P=0.038 and OR=3.53, 95% CI=1.60-7.80, P=0.002, respectively). Further stratification analysis revealed that G allele was associated with an increased risk of breast cancer among premenopausal women (OR=1.68, 95% CI=1.21-2.33, P=0.002), but not in postmenopausal women (OR=1.33, 5% CI=0.85-2.10, P=0.216). Our study suggests that the Ku70 -1310C/G promoter polymorphism may be a susceptibility factor for breast cancer in Chinese Han population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Nuclear / genetics*
  • Asian Continental Ancestry Group / genetics
  • Base Sequence
  • Breast Neoplasms / genetics*
  • DNA Breaks, Double-Stranded
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Ku Autoantigen
  • Logistic Models
  • Molecular Sequence Data
  • Odds Ratio
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide / genetics*
  • Postmenopause / genetics
  • Premenopause / genetics
  • Promoter Regions, Genetic / genetics*
  • Sequence Analysis, DNA


  • Antigens, Nuclear
  • DNA-Binding Proteins
  • Xrcc6 protein, human
  • Ku Autoantigen