A functional polymorphism in CSF1R gene is a novel susceptibility marker for lung cancer among never-smoking females

Hyo Gyoung Kang, Shin Yup Lee, Hyo Sung Jeon, Yi Young Choi, Soyoun Kim, Won Kee Lee, Hyun Chul Lee, Jin Eun Choi, Eun Young Bae, Seung Soo Yoo, Jaehee Lee, Seung Ick Cha, Chang Ho Kim, Myung Hoon Lee, Young Tae Kim, Jin Hee Kim, Yun Chul Hong, Yeul Hong Kim, Jae Yong Park

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1647-1655
Number of pages9
JournalJournal of Thoracic Oncology
Issue number11
Publication statusPublished - 2014 Nov 1

Bibliographical note

Funding Information:
Supported by the National R&D Program for Cancer Control Ministry of Health & Welfare (0720550-2).

Publisher Copyright:
Copyright © 2014 by the International Association for the Study of Lung Cancer.


  • Lung cancer
  • Never-smokers
  • Polymorphism

ASJC Scopus subject areas

  • Oncology
  • Pulmonary and Respiratory Medicine


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