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*†‡

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Abstract

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 International Association for the Study of Lung Cancer

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