Common genetic variants in 53BP1 associated with nonsmall-cell lung cancer risk in Han Chinese

Arch Med Res. 2014 Jan;45(1):84-9. doi: 10.1016/j.arcmed.2013.10.011. Epub 2013 Dec 6.

Abstract

Background and aims: The study investigated several common SNPs in the tumor protein p53 binding protein 1 gene and tumor protein p53 gene in 640 lung cancer cases and 685 controls in Han Chinese to determine if these single nucleotide polymorphisms (SNPs) were associated with lung cancer risk. Several studies indicated that SNPs in the 53BP1 and TP53 gene are associated with cancer risk. We investigated the association between common SNP variants in the 53BP1, TP53 gene and lung cancer risk.

Methods: We used real-time PCR method to investigate the genotypic frequencies of rs2602141, rs560191 and rs689647 in 53BP1 and rs1042522 in TP53 in 640 cases of lung cancer and 685 controls.

Results: SNPs rs2602141, rs560191 and rs689647 in 53BP1 were in complete linkage disequilibrium in Han Chinese. The frequencies of the G/G, G/T and T/T genotypes of rs2602141 were 17.5, 50.3 and 32.2% in cases and 21.0, 49.3 and 29.6% in controls, respectively and distributions were not significantly different (p = 0.236). The rs2602141 T/T genotype increased NSCLC risk (OR = 1.56, 95% CI = 1.10-2.21).

Conclusions: The genotype distribution frequency of rs1042522 does not demonstrate significant differences between cases and control group. 53BP1 and TP53 gene interactions were not associated with lung cancer risk.

Keywords: 53BP1; Disease susceptibility; Lung cancer; Single nucleotide polymorphism; TP53.

MeSH terms

  • Adult
  • Aged
  • Asian People*
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Case-Control Studies
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Linkage Disequilibrium
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Risk
  • Tumor Suppressor Protein p53 / genetics*
  • Tumor Suppressor p53-Binding Protein 1

Substances

  • Intracellular Signaling Peptides and Proteins
  • TP53 protein, human
  • TP53BP1 protein, human
  • Tumor Suppressor Protein p53
  • Tumor Suppressor p53-Binding Protein 1