Skip Navigation LinksHome > November 2014 - Volume 9 - Issue 11 > A Functional Polymorphism in CSF1R Gene Is a Novel Susceptib...
Journal of Thoracic Oncology:
doi: 10.1097/JTO.0000000000000310
Original Articles

A Functional Polymorphism in CSF1R Gene Is a Novel Susceptibility Marker for Lung Cancer among Never-Smoking Females

Kang, Hyo-Gyoung PhD*; Lee, Shin Yup MD, PhD†‡; Jeon, Hyo-Sung PhD*; Choi, Yi Young PhD*; Kim, Soyoun PhD*; Lee, Won Kee PhD§; Lee, Hyun Chul MSc; Choi, Jin Eun PhD*; Bae, Eun Young MSc*; Yoo, Seung Soo MD, PhD†‡; Lee, Jaehee MD; Cha, Seung Ick MD; Kim, Chang Ho MD; Lee, Myung Hoon PhD; Kim, Young Tae MD¶#; Kim, Jin Hee PhD**; Hong, Yun-Chul MD††; Kim, Yeul Hong MD‡‡§§; Park, Jae Yong MD, PhD*†‡

Collapse Box


Introduction: It has been estimated that the proportion of never-smokers among females with lung cancer is 53% worldwide and 75% in Korea. We conducted a two-stage study to identify genetic factors responsible for lung cancer susceptibility in female never-smokers.

Materials and Methods: In a discovery set, 1969 potentially functional single nucleotide polymorphisms (SNPs) of 1151 genes, which were related to cancer development and progression, were evaluated using the Affymetrix custom-made GeneChip in 181 female never-smokers with lung cancer and 179 controls. A replication study was performed on an independent cohort of 596 cases and 1194 healthy controls.

Results: Sixteen SNPs with p < 0.05 for genotype distribution in the discovery set were enrolled in the replication study. Among 16 SNPs, three SNPs (colony-stimulating factor 1 receptor [CSF1R] rs10079250A>G, tumor protein p63 [TP63] rs7631358G>A, and corepressor interacting with RBPJ 1 [CIR1] rs13009079T>C) were found to be significantly associated with lung cancer in the same direction as the discovery set. Homology-based model for CSF1R indicated that the rs10079250A>G leads to increased positive charge of CSF-binding region of CSF1R, thereby increasing the chance of binding between CSF and CSF1R. In addition, this SNP was found to increase the phosphorylation of a mitogen-activated protein kinase, JNK.

Conclusions: Our results suggest that the three SNPs, particularly CSF1R rs10079250, may contribute to lung cancer susceptibility in never-smoking females.

Copyright © 2014 by the European Lung Cancer Conference and the International Association for the Study of Lung Cancer.


Article Tools


Search for Similar Articles
You may search for similar articles that contain these same keywords or you may modify the keyword list to augment your search.

Other Ways to Connect



Visit on your smartphone. Scan this code (QR reader app required) with your phone and be taken directly to the site.

 For additional oncology content, visit LWW Oncology Journals on Facebook.