FoxP3 genetic variants and risk of non-small cell lung cancer in the Chinese Han population

Gene. 2013 Dec 1;531(2):422-5. doi: 10.1016/j.gene.2013.08.066. Epub 2013 Sep 10.

Abstract

CD4(+)CD25(+) regulatory T cell-mediated immunosuppression is one of the crucial mechanisms that tumor cells use to evade the immune system. The forkhead box P3 (FoxP3) gene regulates regulatory T-cell development and function and may modulate the susceptibility to non-small cell lung cancer (NSCLC). Because a single nucleotide polymorphism (SNP) within the FoxP3 gene (rs3761548 in the promoter region) is associated with susceptibility to Graves' disease, this study detected rs3761548 in a hospital-based case-control study. A total of 192 NSCLC patients and 259 healthy subjects were recruited for the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of FoxP3 SNP. The data showed that the A allele of rs3761548 significantly increased NSCLC risk (P=0.000, OR=2.32, 95%CI=1.736-3.102). The AC genotype, AA genotype, and the combined A variant genotype (AA+AC) were also associated with a higher risk of NSCLC (OR [95%CI]=2.147[1.419-3.247], 4.413[2.359-8.255], and 2.563[1.746-3.761], respectively). Moreover, a significantly higher frequency of AA+AC genotype was observed in patients with stage II NSCLC (OR, 2.053; 95%CI, 1.033-4.078). In conclusion, the data from the current study demonstrated for the first time the association of the FoxP3 SNP with a risk of developing NSCLC in the Chinese Han population.

Keywords: CI; Cancer risk; FoxP3; Lung cancer; NSCLC; OR; PCR-RFLP; SCC; SNP; Single nucleotide polymorphism; Tregs; confidence intervals; forkhead box P3; non-small cell lung cancer; odds ratio; polymerase chain reaction–restriction fragment length polymorphism; regulatory T cells; single nucleotide polymorphism; squamous cell carcinoma.

MeSH terms

  • Adult
  • Aged
  • Asian People / genetics
  • Asian People / statistics & numerical data
  • Carcinoma, Non-Small-Cell Lung / epidemiology
  • Carcinoma, Non-Small-Cell Lung / ethnology
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Case-Control Studies
  • Cohort Studies
  • Female
  • Forkhead Transcription Factors / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Humans
  • Lung Neoplasms / epidemiology
  • Lung Neoplasms / ethnology
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • FOXP3 protein, human
  • Forkhead Transcription Factors