Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk

Yafei Li, Zhifu Sun, Yanhong Wu, Dusica Babovic-Vuksanovic, Yan Li, Julie M. Cunningham, Vernon S. Pankratz, Ping Yang

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


The cystic fibrosis transmembrane conductance regulator (CFTR) holds an important role in retaining lung function, but its association with lung cancer is unclear. A case-control study was conducted to determine the possible associations of the genetic variants in the CFTR gene with lung cancer risk. Genotypes of the most common deletion ΔF508, one functional SNP, and eight tag SNPs in the CFTR gene were determined in 574 lung cancer patients and 679 controls. A logistic regression model, adjusting for known risk factors, was used to evaluate the association of each variant with lung cancer risk, as confirmation haplotype and sub-haplotype analyses were performed ΔF508 deletion and genotypes with minor alleles in one tag SNP, rs10487372, and one functional SNP, rs213950, were inversely associated with lung cancer risk. The results of haplotype and sub-haplotype analyses were consistent with single variant analysis, all pointing to deletion ΔF508 being the key variant for significant haplotypes and sub-haplotypes. Individuals with 'deletion-T' (ΔF508/rs10487372) haplotype had a 68% reduced risk for lung cancer compared to common haplotype 'no-deletion-C' (OR=0.32; 95% CI=0.15-0.68; p=0.01). Genetic variations in the CFTR gene might modulate the risk of lung cancer. This study, for the first time, provides evidence of a protective role of the CFTR deletion carrier in the etiology of lung cancer.

Original languageEnglish (US)
Pages (from-to)14-21
Number of pages8
JournalLung Cancer
Issue number1
StatePublished - Oct 2010


  • Cystic fibrosis transmembrane conductance regulator
  • Genetic variation
  • Lung cancer

ASJC Scopus subject areas

  • Oncology
  • Pulmonary and Respiratory Medicine
  • Cancer Research


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