Abstract
To evaluate associations by EGFR mutation status for lung adenocarcinoma risk among never-smoking Asian women, we conducted a meta-analysis of 11 loci previously identified in genome-wide association studies (GWAS). Genotyping in an additional 10,780 never-smoking cases and 10,938 never-smoking controls from Asia confirmed associations with eight known single nucleotide polymorphisms (SNPs). Two new signals were observed at genome-wide significance (P < 5 × 10-8), namely, rs7216064 (17q24.3, BPTF), for overall lung adenocarcinoma risk, and rs3817963 (6p21.3, BTNL2) which is specific to cases with EGFR mutations. In further sub-analyses by EGFR status, rs9387478 (ROS1/DCBLD1) and rs2179920 (HLA-DPB1) showed stronger estimated associations in EGFR-positive compared to EGFR-negative cases. Comparison of the overall associations with published results in Western populations revealed that the majority of these findings were distinct, underscoring the importance of distinct contributing factors for smoking and non-smoking lung cancer. Our results extend the catalogue of regions associated with lung adenocarcinoma in non-smoking Asian women and highlight the importance of how the germline could inform risk for specific tumour mutation patterns, which could have important translational implications.
| Original language | English |
|---|---|
| Pages (from-to) | 454-465 |
| Number of pages | 12 |
| Journal | Human molecular genetics |
| Volume | 26 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2017 |
| Externally published | Yes |
All Science Journal Classification (ASJC) codes
- Molecular Biology
- Genetics
- Genetics(clinical)
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In: Human molecular genetics, Vol. 26, No. 2, 2017, p. 454-465.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations
AU - Seow, Wei Jie
AU - Matsuo, Keitaro
AU - Hsiung, Chao Agnes
AU - Shiraishi, Kouya
AU - Song, Minsun
AU - NamKim, Hee
AU - Wong, Maria Pik
AU - Hong, Yun Chul
AU - Dean Hosgood, H.
AU - Wang, Zhaoming
AU - Chang, I. Shou
AU - Wang, Jiu Cun
AU - Chatterjee, Nilanjan
AU - Tucker, Margaret
AU - Wei, Hu
AU - Mitsudomi, Tetsuya
AU - Zheng, Wei
AU - Kim, Jin Hee
AU - Zhou, Baosen
AU - Caporaso, Neil E.
AU - Albanes, Demetrius
AU - Shin, Min Ho
AU - Chung, Lap Ping
AU - An, She Juan
AU - Wang, Ping
AU - Zheng, Hong
AU - Yatabe, Yasushi
AU - Zhang, Xu Chao
AU - Kim, Young Tae
AU - Shu, Xiao Ou
AU - Kim, Young Chul
AU - Bassig, Bryan A.
AU - Chang, Jiang
AU - Man Ho, James Chung
AU - Ji, Bu Tian
AU - Kubo, Michiaki
AU - Daigo, Yataro
AU - Ito, Hidemi
AU - Momozawa, Yukihide
AU - Ashikawa, Kyota
AU - Kamatani, Yoichiro
AU - Honda, Takayuki
AU - Sakamoto, Hiromi
AU - Kunitoh, Hideo
AU - Tsuta, Koji
AU - Watanabe, Shun Ichi
AU - Nokihara, Hiroshi
AU - Miyagi, Yohei
AU - Nakayama, Haruhiko
AU - Matsumoto, Shingo
AU - Tsuboi, Masahiro
AU - Goto, Koichi
AU - Yin, Zhihua
AU - Shi, Jianxin
AU - Takahashi, Atsushi
AU - Goto, Akiteru
AU - Minamiya, Yoshihiro
AU - Shimizu, Kimihiro
AU - Tanaka, Kazumi
AU - Wu, Tangchun
AU - Wei, Fusheng
AU - Wong, Jason Y.Y.
AU - Matsuda, Fumihiko
AU - Su, Jian
AU - Kim, Yeul Hong
AU - Oh, In Jae
AU - Song, Fengju
AU - Lee, Victor Ho Fun
AU - Su, Wu Chou
AU - Chen, Yuh Min
AU - Chang, Gee Chen
AU - Chen, Kuan Yu
AU - Huang, Ming Shyan
AU - Yang, Pan Chyr
AU - Lin, Hsien Chih
AU - Xiang, Yong Bing
AU - Seow, Adeline
AU - Park, Jae Yong
AU - Kweon, Sun Seog
AU - Chen, Chien Jen
AU - Li, Haixin
AU - Gao, Yu Tang
AU - Wu, Chen
AU - Qian, Biyun
AU - Lu, Daru
AU - Liu, Jianjun
AU - Jeon, Hyo Sung
AU - Hsiao, Chin Fu
AU - Sung, Jae Sook
AU - Tsai, Ying Huang
AU - Jung, Yoo Jin
AU - Guo, Huan
AU - Hu, Zhibin
AU - Wang, Wen Chang
AU - Chung, Charles C.
AU - Lawrence, Charles
AU - Burdett, Laurie
AU - Yeager, Meredith
AU - Jacobs, Kevin B.
AU - Hutchinson, Amy
AU - Berndt, Sonja I.
AU - He, Xingzhou
AU - Wu, Wei
AU - Wang, Junwen
AU - Li, Yuqing
AU - Choi, Jin Eun
AU - Park, Kyong Hwa
AU - Sung, Sook Whan
AU - Liu, Li
AU - Kang, Chang Hyun
AU - Hu, Lingmin
AU - Chen, Chung Hsing
AU - Yang, Tsung Ying
AU - Xu, Jun
AU - Guan, Peng
AU - Tan, Wen
AU - Wang, Chih Liang
AU - Loon Sihoe, Alan Dart
AU - Chen, Ying
AU - Choi, Yi Young
AU - Hung, Jen Yu
AU - Kim, Jun Suk
AU - Yoon, Ho Il
AU - Cai, Qiuyin
AU - Lin, Chien Chung
AU - Park, In Kyu
AU - Xu, Ping
AU - Dong, Jing
AU - Kim, Christopher
AU - He, Qincheng
AU - Perng, Reury Perng
AU - Chen, Chih Yi
AU - Vermeulen, Roel
AU - Wu, Junjie
AU - Lim, Wei Yen
AU - Chen, Kun Chieh
AU - Chan, John K.C.
AU - Chu, Minjie
AU - Li, Yao Jen
AU - Li, Jihua
AU - Chen, Hongyan
AU - Yu, Chong Jen
AU - Jin, Li
AU - Lo, Yen Li
AU - Chen, Ying Hsiang
AU - Fraumeni, Joseph F.
AU - Liu, Jie
AU - Yamaji, Taiki
AU - Yang, Yang
AU - Hicks, Belynda
AU - Wyatt, Kathleen
AU - Li, Shengchao A.
AU - Dai, Juncheng
AU - Ma, Hongxia
AU - Jin, Guangfu
AU - Song, Bao
AU - Wang, Zhehai
AU - Cheng, Sensen
AU - Li, Xuelian
AU - Ren, Yangwu
AU - Cui, Ping
AU - Iwasaki, Motoki
AU - Shimazu, Taichi
AU - Tsugane, Shoichiro
AU - Zhu, Junjie
AU - Jiang, Gening
AU - Fei, Ke
AU - Wu, Guoping
AU - Chien, Li Hsin
AU - Chen, Hui Ling
AU - Su, Yu Chun
AU - Tsai, Fang Yu
AU - Chen, Yi Song
AU - Yu, Jinming
AU - Stevens, Victoria L.
AU - Laird-Offringa, Ite A.
AU - Marconett, Crystal N.
AU - Lin, Dongxin
AU - Chen, Kexin
AU - Wu, Yi Long
AU - Landi, Maria Teresa
AU - Shen, Hongbing
AU - Rothman, Nathaniel
AU - Kohno, Takashi
AU - Chanock, Stephen J.
AU - Lan, Qing
N1 - Funding Information: This study was supported by a Grant-in-Aid for Scientific Research on Priority Areas from the Ministry of Education, Science, Sports, Culture and Technology of Japan, a Grant-in-Aid for the Third Term Comprehensive 10-Year Strategy for Cancer Control from the Ministry Health, Labor and Welfare of Japan, by Health and Labor Sciences Research Grants for Research on Applying Health Technology from the Ministry of Health, Labor and Welfare of Japan, by the National Cancer Center Research and Development Fund, the National Research Foundation of Korea (NRF) grant funded by the Korea government (MEST) (grant No. 2011-0016106), a grant of the National Project for Personalized Genomic Medicine, Ministry for Health & Welfare, Republic of Korea (A111218-11-GM04), the Program for Changjiang Scholars and Innovative Research Team in University in China (IRT_14R40 to K.C.), the National Science & Technology Pillar Program (2011BAI09B00), MOE 111 Project (B13016), the National Natural Science Foundation of China (No. 30772531, and 81272618), Guangdong Provincial Key Laboratory of Lung Cancer Translational Medicine (No. 2012A061400006), Special Fund for Research in the Public Interest from the National Health and Family Planning Commission of PRC (No. 201402031), and the Ministry of Science and Technology, Taiwan (MOST 103-2325-B-400-023 & 104-2325-B-400-012). The Japan Lung Cancer Study (JLCS) was supported in part by the Practical Research for Innovative Cancer Control from Japan Agency for Medical Research and Development (15ck0106096h0002) and the Management Expenses Grants from the Government to the National Cancer Center (26-A-1) for Biobank. BioBank Japan was supported by the Ministry of Education, Culture, Sports, Sciences and Technology of the Japanese government. The Japan Public Health Center-based prospective Study (the JPHC Study) was supported by the National Cancer Center Research and Development Fund (23-A-31[toku] and 26-A-2) (since 2011) and a Grant-in-Aid for Cancer Research from the Ministry of Health, Labour and Welfare of Japan (from 1989 to 2010). The Taiwan GELAC Study (Genetic Epidemiological Study for Lung AdenoCarcinoma) was supported by grants from the National Research Program on Genomic Medicine in Taiwan (DOH99-TD-G-111-028), the National Research Program for Biopharmaceuticals in Taiwan (MOHW 103-TDUPB-211-144003, MOST 103-2325-B-400-023) and the Bioinformatics Core Facility for Translational Medicine and Biotechnology Development (MOST 104-2319-B-400-002). This work was also supported by the Jinan Science Research Project Foundation (201102051), the National Key Scientific and Technological Project (2011ZX09307-001-04), the National Natural Science Foundation of China (No.81272293), the State Key Program of National Natural Science of China (81230067), the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIP) (No. NRF-2014R1A2A2A05003665), Sookmyung Women's University Research Grants, Korea (1-1603-2048), Agency for Science, Technology and Research (A*STAR), Singapore and the US National Institute of Health Grant (1U19CA148127-01). The overall GWAS project was supported by the intramural program of the US National Institutes of Health/National Cancer Institute. The following is a list of grants by study center: SKLCS (Y.T.K.)-National Research Foundation of Korea (NRF) grant funded by the Korea government (MEST) (2011-0016106). (J.C.)-This work was supported by a grant from the National R&D Program for Cancer Control, Ministry of Health &Welfare, Republic of Korea (grant no. 0720550-2). (J.S.S)-grant number is A010250. WLCS (T.W.)-National Key Basic Research and Development Program (2011CB503800). SLCS (B.Z.)-National Nature Science Foundation of China (81102194). Liaoning Provincial Department of Education (LS2010168). China Medical Board (00726). GDS (Y.L.W.)-Foundation of Guangdong Science and Technology Department (2006B60101010, 2007A032000002, 2011A030400010). Guangzhou Science and InformationTechnology Bureau (2011Y2-00014). Chinese Lung Cancer Research Foundation, National Natural Science Foundation of China (81101549). Natural Science Foundation of Guangdong Province (S2011010000792). TLCS (K.C., B.Q)-Program for Changjiang Scholars and Innovative Research Team in University (PCSIRT), China (IRT1076). Tianjin Cancer Institute and Hospital. National Foundation for Cancer Research (US). FLCS (J.C.W., D.R., L.J.)-Ministry of Health (201002007). Ministry of Science and Technology (2011BAI09B00). National S&T Major Special Project (2011ZX09102-010-01). China National High-Tech Research and Development Program (2012AA02A517, 2012AA02A518). National Science Foundation of China (30890034). National Basic Research Program (2012CB944600). Scientific and Technological Support Plans from Jiangsu Province (BE2010715). NLCS (H.S.)-China National High-Tech Research and Development Program Grant (2009AA022705). Priority Academic Program Development of Jiangsu Higher Education Institution. National Key Basic Research Program Grant (2011CB503805). GEL-S (A.S.)-National Medical Research Council Singapore grant (NMRC/0897/2004, NMRC/1075/2006). (J.Liu)-Agency for Science, Technology and Research (A*STAR) of Singapore. GELAC (C.A.H.)-National Research Program on Genomic Medicine in Taiwan (DOH98-TDG-111-015). National Research Program for Biopharmaceuticals in Taiwan (DOH 100-TD-PB-111-TM013). National Science Council, Taiwan (NSC 100-2319-B-400-001). YLCS (Q.L.)-Supported by the intramural program of U.S. National Institutes of Health, National Cancer Institute. SWHS (W.Z., W-H.C., N.R.)-The work was supported by a grant from the National Institutes of Health (R37 CA70867) and the National Cancer Institute intramural research program, including NCI Intramural Research Program contract (N02 CP1101066). JLCS (K.M., T.K.)-Grants-in-Aid from the Ministry of Health, Labor, and Welfare for Research on Applying Health Technology and for the 3rd-term Comprehensive 10-year Strategy for Cancer Control; by the National Cancer Center Research and Development Fund; by Grant-in-Aid for Scientific Research on Priority Areas and on Innovative Area from the Ministry of Education, Science, Sports, Culture and-Technology of Japan. (W.P.)-NCI R01-CA121210. HKS (J.W.)-General Research Fund of Research Grant Council, Hong Kong (781511M). The Environment and Genetics in Lung Cancer Etiology (EAGLE), Prostate, Lung, Colon, Ovary Screening Trial (PLCO), and Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) studies were supported by the Intramural Research Program of the National Institutes of Health, National Cancer Institute (NCI), Division of Cancer Epidemiology and Genetics. ATBC was also supported by U.S. Public Health Service contracts (N01-CN-45165, N01-RC-45035, and N01-RC-37004) from the NCI. PLCO was also supported by individual contracts from the NCI to the University of Colorado Denver (NO1-CN-25514), Georgetown University (NO1-CN-25522), the Pacific Health Research Institute (NO1-CN-25515), the Henry Ford Health System (NO1-CN-25512), the University of Minnesota, (NO1-CN-25513), Washington University (NO1-CN-25516), the University of Pittsburgh (NO1-CN-25511), the University of Utah (NO1-CN-25524), the Marshfield Clinic Research Foundation (NO1-CN-25518), the University of Alabama at Birmingham (NO1-CN-75022), Westat, Inc. (NO1-CN-25476), and the University of California, Los Angeles (NO1-CN-25404). The Cancer Prevention Study-II (CPS-II) Nutrition Cohort was supported by the American Cancer Society. The NIH Genes, Environment and Health Initiative (GEI) partly funded DNA extraction and statistical analyses (HG-06-033-NCI-01 and RO1HL091172-01), genotyping at the Johns Hopkins University Center for Inherited Disease Research. Publisher Copyright: © The Author 2016. Published by Oxford University Press. All rights reserved.
PY - 2017
Y1 - 2017
N2 - To evaluate associations by EGFR mutation status for lung adenocarcinoma risk among never-smoking Asian women, we conducted a meta-analysis of 11 loci previously identified in genome-wide association studies (GWAS). Genotyping in an additional 10,780 never-smoking cases and 10,938 never-smoking controls from Asia confirmed associations with eight known single nucleotide polymorphisms (SNPs). Two new signals were observed at genome-wide significance (P < 5 × 10-8), namely, rs7216064 (17q24.3, BPTF), for overall lung adenocarcinoma risk, and rs3817963 (6p21.3, BTNL2) which is specific to cases with EGFR mutations. In further sub-analyses by EGFR status, rs9387478 (ROS1/DCBLD1) and rs2179920 (HLA-DPB1) showed stronger estimated associations in EGFR-positive compared to EGFR-negative cases. Comparison of the overall associations with published results in Western populations revealed that the majority of these findings were distinct, underscoring the importance of distinct contributing factors for smoking and non-smoking lung cancer. Our results extend the catalogue of regions associated with lung adenocarcinoma in non-smoking Asian women and highlight the importance of how the germline could inform risk for specific tumour mutation patterns, which could have important translational implications.
AB - To evaluate associations by EGFR mutation status for lung adenocarcinoma risk among never-smoking Asian women, we conducted a meta-analysis of 11 loci previously identified in genome-wide association studies (GWAS). Genotyping in an additional 10,780 never-smoking cases and 10,938 never-smoking controls from Asia confirmed associations with eight known single nucleotide polymorphisms (SNPs). Two new signals were observed at genome-wide significance (P < 5 × 10-8), namely, rs7216064 (17q24.3, BPTF), for overall lung adenocarcinoma risk, and rs3817963 (6p21.3, BTNL2) which is specific to cases with EGFR mutations. In further sub-analyses by EGFR status, rs9387478 (ROS1/DCBLD1) and rs2179920 (HLA-DPB1) showed stronger estimated associations in EGFR-positive compared to EGFR-negative cases. Comparison of the overall associations with published results in Western populations revealed that the majority of these findings were distinct, underscoring the importance of distinct contributing factors for smoking and non-smoking lung cancer. Our results extend the catalogue of regions associated with lung adenocarcinoma in non-smoking Asian women and highlight the importance of how the germline could inform risk for specific tumour mutation patterns, which could have important translational implications.
UR - http://www.scopus.com/inward/record.url?scp=85018291744&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85018291744&partnerID=8YFLogxK
U2 - 10.1093/hmg/ddw414
DO - 10.1093/hmg/ddw414
M3 - Article
C2 - 28025329
AN - SCOPUS:85018291744
SN - 0964-6906
VL - 26
SP - 454
EP - 465
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 2
ER -