TY - JOUR
T1 - Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk
AU - Li, Yafei
AU - Sun, Zhifu
AU - Wu, Yanhong
AU - Babovic-Vuksanovic, Dusica
AU - Li, Yan
AU - Cunningham, Julie M.
AU - Pankratz, Vernon S.
AU - Yang, Ping
N1 - Funding Information:
We thank Susan Ernst M.A., for her technical assistance with the manuscript. We thank W Edward Highsmith and Stephen N. Thibodeau for their helpful comments at various stages of this work. This study was supported by grants NIH-CA 77118, NIH-CA 80127, and NIH-CA 84354 and Mayo Foundation funds.
PY - 2010/10
Y1 - 2010/10
N2 - 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.
AB - 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.
KW - Cystic fibrosis transmembrane conductance regulator
KW - Genetic variation
KW - Lung cancer
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U2 - 10.1016/j.lungcan.2010.01.005
DO - 10.1016/j.lungcan.2010.01.005
M3 - Article
C2 - 20116881
AN - SCOPUS:77956190340
SN - 0169-5002
VL - 70
SP - 14
EP - 21
JO - Lung Cancer
JF - Lung Cancer
IS - 1
ER -