Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations

Wei Jie Seow, Keitaro Matsuo, Chao Agnes Hsiung, Kouya Shiraishi, Minsun Song, Hee NamKim, Maria Pik Wong, Yun Chul Hong, H. Dean Hosgood, Zhaoming Wang, I. Shou Chang, Jiu Cun Wang, Nilanjan Chatterjee, Margaret Tucker, Hu Wei, Tetsuya Mitsudomi, Wei Zheng, Jin Hee Kim, Baosen Zhou, Neil E. Caporaso & 166 others Demetrius Albanes, Min Ho Shin, Lap Ping Chung, She Juan An, Yong Ping Wang, Hong Zheng, Yasushi Yatabe, Xu Chao Zhang, Young Tae Kim, Xiao Ou Shu, Young Chul Kim, Bryan A. Bassig, Jiang Chang, James Chung Man Ho, Bu Tian Ji, Michiaki Kubo, Yataro Daigo, Hidemi Ito, Yukihide Momozawa, Kyota Ashikawa, Yoichiro Kamatani, Takayuki Honda, Hiromi Sakamoto, Hideo Kunitoh, Koji Tsuta, Shun Ichi Watanabe, Hiroshi Nokihara, Yohei Miyagi, Haruhiko Nakayama, Shingo Matsumoto, Masahiro Tsuboi, Koichi Goto, Zhihua Yin, Jianxin Shi, Atsushi Takahashi, Akiteru Goto, Yoshihiro Minamiya, Kimihiro Shimizu, Kazumi Tanaka, Tangchun Wu, Fusheng Wei, Jason Y.Y. Wong, Fumihiko Matsuda, Jian Su, Yeul Hong Kim, In Jae Oh, Fengju Song, Victor Ho Fun Lee, Wu Chou Su, Yuh Min Chen, Gee Chen Chang, Kuan Yu Chen, Ming Shyan Huang, Pan Chyr Yang, Hsien Chih Lin, Yong Bing Xiang, Adeline Seow, Jae Yong Park, Sun Seog Kweon, Chien Jen Chen, Haixin Li, Yu Tang Gao, Chen Wu, Biyun Qian, Daru Lu, Jianjun Liu, Hyo Sung Jeon, Chin Fu Hsiao, Jae Sook Sung, Ying Huang Tsai, Yoo Jin Jung, Huan Guo, Zhibin Hu, Wen Chang Wang, Charles C. Chung, Charles Lawrence, Laurie Burdett, Meredith Yeager, Kevin B. Jacobs, Amy Hutchinson, Sonja I. Berndt, Xingzhou He, Wei Wu, Junwen Wang, Yuqing Li, Jin Eun Choi, Kyong Hwa Park, Sook Whan Sung, Li Liu, Chang Hyun Kang, Lingmin Hu, Chung Hsing Chen, Tsung Ying Yang, Jun Xu, Peng Guan, Wen Tan, Chih Liang Wang, Alan Dart Loon Sihoe, Ying Chen, Yi Young Choi, Jen Yu Hung, Jun Suk Kim, Ho Il Yoon, Qiuyin Cai, Chien Chung Lin, In Kyu Park, Ping Xu, Jing Dong, Christopher Kim, Qincheng He, Reury Perng Perng, Chih Yi Chen, Roel Vermeulen, Junjie Wu, Wei Yen Lim, Kun Chieh Chen, John K C Chan, Minjie Chu, Yao Jen Li, Jihua Li, Hongyan Chen, Chong Jen Yu, Li Jin, Yen Li Lo, Ying Hsiang Chen, Joseph F. Fraumeni, Jie Liu, Taiki Yamaji, Yang Yang, Belynda Hicks, Kathleen Wyatt, Shengchao A. Li, Juncheng Dai, Hongxia Ma, Guangfu Jin, Bao Song, Zhehai Wang, Sensen Cheng, Xuelian Li, Yangwu Ren, Ping Cui, Motoki Iwasaki, Taichi Shimazu, Shoichiro Tsugane, Junjie Zhu, Gening Jiang, Ke Fei, Guoping Wu, Li Hsin Chien, Hui Ling Chen, Yu Chun Su, Fang Yu Tsai, Yi Song Chen, Jinming Yu, Victoria L. Stevens, Ite A. Laird-Offringa, Crystal N. Marconett, Dongxin Lin, Kexin Chen, Yi Long Wu, Maria Teresa Landi, Hongbing Shen, Nathaniel Rothman, Takashi Kohno, Stephen J. Chanock, Qing Lan

Research output: Contribution to journalArticle

13 Citations (Scopus)

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 languageEnglish
Pages (from-to)454-465
Number of pages12
JournalHuman Molecular Genetics
Volume26
Issue number2
DOIs
Publication statusPublished - 2017

Fingerprint

Genome-Wide Association Study
Smoking
Mutation
Population
Single Nucleotide Polymorphism
Meta-Analysis
Lung Neoplasms
Genome
Adenocarcinoma of lung
Neoplasms

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations. / Seow, Wei Jie; Matsuo, Keitaro; Hsiung, Chao Agnes; Shiraishi, Kouya; Song, Minsun; NamKim, Hee; Wong, Maria Pik; Hong, Yun Chul; Dean Hosgood, H.; Wang, Zhaoming; Chang, I. Shou; Wang, Jiu Cun; Chatterjee, Nilanjan; Tucker, Margaret; Wei, Hu; Mitsudomi, Tetsuya; Zheng, Wei; Kim, Jin Hee; Zhou, Baosen; Caporaso, Neil E.; Albanes, Demetrius; Shin, Min Ho; Chung, Lap Ping; An, She Juan; Wang, Yong Ping; Zheng, Hong; Yatabe, Yasushi; Zhang, Xu Chao; Kim, Young Tae; Shu, Xiao Ou; Kim, Young Chul; Bassig, Bryan A.; Chang, Jiang; Man Ho, James Chung; Ji, Bu Tian; Kubo, Michiaki; Daigo, Yataro; Ito, Hidemi; Momozawa, Yukihide; Ashikawa, Kyota; Kamatani, Yoichiro; Honda, Takayuki; Sakamoto, Hiromi; Kunitoh, Hideo; Tsuta, Koji; Watanabe, Shun Ichi; Nokihara, Hiroshi; Miyagi, Yohei; Nakayama, Haruhiko; Matsumoto, Shingo; Tsuboi, Masahiro; Goto, Koichi; Yin, Zhihua; Shi, Jianxin; Takahashi, Atsushi; Goto, Akiteru; Minamiya, Yoshihiro; Shimizu, Kimihiro; Tanaka, Kazumi; Wu, Tangchun; Wei, Fusheng; Wong, Jason Y.Y.; Matsuda, Fumihiko; Su, Jian; Kim, Yeul Hong; Oh, In Jae; Song, Fengju; Lee, Victor Ho Fun; Su, Wu Chou; Chen, Yuh Min; Chang, Gee Chen; Chen, Kuan Yu; Huang, Ming Shyan; Yang, Pan Chyr; Lin, Hsien Chih; Xiang, Yong Bing; Seow, Adeline; Park, Jae Yong; Kweon, Sun Seog; Chen, Chien Jen; Li, Haixin; Gao, Yu Tang; Wu, Chen; Qian, Biyun; Lu, Daru; Liu, Jianjun; Jeon, Hyo Sung; Hsiao, Chin Fu; Sung, Jae Sook; Tsai, Ying Huang; Jung, Yoo Jin; Guo, Huan; Hu, Zhibin; Wang, Wen Chang; Chung, Charles C.; Lawrence, Charles; Burdett, Laurie; Yeager, Meredith; Jacobs, Kevin B.; Hutchinson, Amy; Berndt, Sonja I.; He, Xingzhou; Wu, Wei; Wang, Junwen; Li, Yuqing; Choi, Jin Eun; Park, Kyong Hwa; Sung, Sook Whan; Liu, Li; Kang, Chang Hyun; Hu, Lingmin; Chen, Chung Hsing; Yang, Tsung Ying; Xu, Jun; Guan, Peng; Tan, Wen; Wang, Chih Liang; Loon Sihoe, Alan Dart; Chen, Ying; Choi, Yi Young; Hung, Jen Yu; Kim, Jun Suk; Yoon, Ho Il; Cai, Qiuyin; Lin, Chien Chung; Park, In Kyu; Xu, Ping; Dong, Jing; Kim, Christopher; He, Qincheng; Perng, Reury Perng; Chen, Chih Yi; Vermeulen, Roel; Wu, Junjie; Lim, Wei Yen; Chen, Kun Chieh; Chan, John K C; Chu, Minjie; Li, Yao Jen; Li, Jihua; Chen, Hongyan; Yu, Chong Jen; Jin, Li; Lo, Yen Li; Chen, Ying Hsiang; Fraumeni, Joseph F.; Liu, Jie; Yamaji, Taiki; Yang, Yang; Hicks, Belynda; Wyatt, Kathleen; Li, Shengchao A.; Dai, Juncheng; Ma, Hongxia; Jin, Guangfu; Song, Bao; Wang, Zhehai; Cheng, Sensen; Li, Xuelian; Ren, Yangwu; Cui, Ping; Iwasaki, Motoki; Shimazu, Taichi; Tsugane, Shoichiro; Zhu, Junjie; Jiang, Gening; Fei, Ke; Wu, Guoping; Chien, Li Hsin; Chen, Hui Ling; Su, Yu Chun; Tsai, Fang Yu; Chen, Yi Song; Yu, Jinming; Stevens, Victoria L.; Laird-Offringa, Ite A.; Marconett, Crystal N.; Lin, Dongxin; Chen, Kexin; Wu, Yi Long; Landi, Maria Teresa; Shen, Hongbing; Rothman, Nathaniel; Kohno, Takashi; Chanock, Stephen J.; Lan, Qing.

In: Human Molecular Genetics, Vol. 26, No. 2, 2017, p. 454-465.

Research output: Contribution to journalArticle

Seow, WJ, Matsuo, K, Hsiung, CA, Shiraishi, K, Song, M, NamKim, H, Wong, MP, Hong, YC, Dean Hosgood, H, Wang, Z, Chang, IS, Wang, JC, Chatterjee, N, Tucker, M, Wei, H, Mitsudomi, T, Zheng, W, Kim, JH, Zhou, B, Caporaso, NE, Albanes, D, Shin, MH, Chung, LP, An, SJ, Wang, YP, Zheng, H, Yatabe, Y, Zhang, XC, Kim, YT, Shu, XO, Kim, YC, Bassig, BA, Chang, J, Man Ho, JC, Ji, BT, Kubo, M, Daigo, Y, Ito, H, Momozawa, Y, Ashikawa, K, Kamatani, Y, Honda, T, Sakamoto, H, Kunitoh, H, Tsuta, K, Watanabe, SI, Nokihara, H, Miyagi, Y, Nakayama, H, Matsumoto, S, Tsuboi, M, Goto, K, Yin, Z, Shi, J, Takahashi, A, Goto, A, Minamiya, Y, Shimizu, K, Tanaka, K, Wu, T, Wei, F, Wong, JYY, Matsuda, F, Su, J, Kim, YH, Oh, IJ, Song, F, Lee, VHF, Su, WC, Chen, YM, Chang, GC, Chen, KY, Huang, MS, Yang, PC, Lin, HC, Xiang, YB, Seow, A, Park, JY, Kweon, SS, Chen, CJ, Li, H, Gao, YT, Wu, C, Qian, B, Lu, D, Liu, J, Jeon, HS, Hsiao, CF, Sung, JS, Tsai, YH, Jung, YJ, Guo, H, Hu, Z, Wang, WC, Chung, CC, Lawrence, C, Burdett, L, Yeager, M, Jacobs, KB, Hutchinson, A, Berndt, SI, He, X, Wu, W, Wang, J, Li, Y, Choi, JE, Park, KH, Sung, SW, Liu, L, Kang, CH, Hu, L, Chen, CH, Yang, TY, Xu, J, Guan, P, Tan, W, Wang, CL, Loon Sihoe, AD, Chen, Y, Choi, YY, Hung, JY, Kim, JS, Yoon, HI, Cai, Q, Lin, CC, Park, IK, Xu, P, Dong, J, Kim, C, He, Q, Perng, RP, Chen, CY, Vermeulen, R, Wu, J, Lim, WY, Chen, KC, Chan, JKC, Chu, M, Li, YJ, Li, J, Chen, H, Yu, CJ, Jin, L, Lo, YL, Chen, YH, Fraumeni, JF, Liu, J, Yamaji, T, Yang, Y, Hicks, B, Wyatt, K, Li, SA, Dai, J, Ma, H, Jin, G, Song, B, Wang, Z, Cheng, S, Li, X, Ren, Y, Cui, P, Iwasaki, M, Shimazu, T, Tsugane, S, Zhu, J, Jiang, G, Fei, K, Wu, G, Chien, LH, Chen, HL, Su, YC, Tsai, FY, Chen, YS, Yu, J, Stevens, VL, Laird-Offringa, IA, Marconett, CN, Lin, D, Chen, K, Wu, YL, Landi, MT, Shen, H, Rothman, N, Kohno, T, Chanock, SJ & Lan, Q 2017, 'Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations', Human Molecular Genetics, vol. 26, no. 2, pp. 454-465. https://doi.org/10.1093/hmg/ddw414
Seow, Wei Jie ; Matsuo, Keitaro ; Hsiung, Chao Agnes ; Shiraishi, Kouya ; Song, Minsun ; NamKim, Hee ; Wong, Maria Pik ; Hong, Yun Chul ; Dean Hosgood, H. ; Wang, Zhaoming ; Chang, I. Shou ; Wang, Jiu Cun ; Chatterjee, Nilanjan ; Tucker, Margaret ; Wei, Hu ; Mitsudomi, Tetsuya ; Zheng, Wei ; Kim, Jin Hee ; Zhou, Baosen ; Caporaso, Neil E. ; Albanes, Demetrius ; Shin, Min Ho ; Chung, Lap Ping ; An, She Juan ; Wang, Yong Ping ; Zheng, Hong ; Yatabe, Yasushi ; Zhang, Xu Chao ; Kim, Young Tae ; Shu, Xiao Ou ; Kim, Young Chul ; Bassig, Bryan A. ; Chang, Jiang ; Man Ho, James Chung ; Ji, Bu Tian ; Kubo, Michiaki ; Daigo, Yataro ; Ito, Hidemi ; Momozawa, Yukihide ; Ashikawa, Kyota ; Kamatani, Yoichiro ; Honda, Takayuki ; Sakamoto, Hiromi ; Kunitoh, Hideo ; Tsuta, Koji ; Watanabe, Shun Ichi ; Nokihara, Hiroshi ; Miyagi, Yohei ; Nakayama, Haruhiko ; Matsumoto, Shingo ; Tsuboi, Masahiro ; Goto, Koichi ; Yin, Zhihua ; Shi, Jianxin ; Takahashi, Atsushi ; Goto, Akiteru ; Minamiya, Yoshihiro ; Shimizu, Kimihiro ; Tanaka, Kazumi ; Wu, Tangchun ; Wei, Fusheng ; Wong, Jason Y.Y. ; Matsuda, Fumihiko ; Su, Jian ; Kim, Yeul Hong ; Oh, In Jae ; Song, Fengju ; Lee, Victor Ho Fun ; Su, Wu Chou ; Chen, Yuh Min ; Chang, Gee Chen ; Chen, Kuan Yu ; Huang, Ming Shyan ; Yang, Pan Chyr ; Lin, Hsien Chih ; Xiang, Yong Bing ; Seow, Adeline ; Park, Jae Yong ; Kweon, Sun Seog ; Chen, Chien Jen ; Li, Haixin ; Gao, Yu Tang ; Wu, Chen ; Qian, Biyun ; Lu, Daru ; Liu, Jianjun ; Jeon, Hyo Sung ; Hsiao, Chin Fu ; Sung, Jae Sook ; Tsai, Ying Huang ; Jung, Yoo Jin ; Guo, Huan ; Hu, Zhibin ; Wang, Wen Chang ; Chung, Charles C. ; Lawrence, Charles ; Burdett, Laurie ; Yeager, Meredith ; Jacobs, Kevin B. ; Hutchinson, Amy ; Berndt, Sonja I. ; He, Xingzhou ; Wu, Wei ; Wang, Junwen ; Li, Yuqing ; Choi, Jin Eun ; Park, Kyong Hwa ; Sung, Sook Whan ; Liu, Li ; Kang, Chang Hyun ; Hu, Lingmin ; Chen, Chung Hsing ; Yang, Tsung Ying ; Xu, Jun ; Guan, Peng ; Tan, Wen ; Wang, Chih Liang ; Loon Sihoe, Alan Dart ; Chen, Ying ; Choi, Yi Young ; Hung, Jen Yu ; Kim, Jun Suk ; Yoon, Ho Il ; Cai, Qiuyin ; Lin, Chien Chung ; Park, In Kyu ; Xu, Ping ; Dong, Jing ; Kim, Christopher ; He, Qincheng ; Perng, Reury Perng ; Chen, Chih Yi ; Vermeulen, Roel ; Wu, Junjie ; Lim, Wei Yen ; Chen, Kun Chieh ; Chan, John K C ; Chu, Minjie ; Li, Yao Jen ; Li, Jihua ; Chen, Hongyan ; Yu, Chong Jen ; Jin, Li ; Lo, Yen Li ; Chen, Ying Hsiang ; Fraumeni, Joseph F. ; Liu, Jie ; Yamaji, Taiki ; Yang, Yang ; Hicks, Belynda ; Wyatt, Kathleen ; Li, Shengchao A. ; Dai, Juncheng ; Ma, Hongxia ; Jin, Guangfu ; Song, Bao ; Wang, Zhehai ; Cheng, Sensen ; Li, Xuelian ; Ren, Yangwu ; Cui, Ping ; Iwasaki, Motoki ; Shimazu, Taichi ; Tsugane, Shoichiro ; Zhu, Junjie ; Jiang, Gening ; Fei, Ke ; Wu, Guoping ; Chien, Li Hsin ; Chen, Hui Ling ; Su, Yu Chun ; Tsai, Fang Yu ; Chen, Yi Song ; Yu, Jinming ; Stevens, Victoria L. ; Laird-Offringa, Ite A. ; Marconett, Crystal N. ; Lin, Dongxin ; Chen, Kexin ; Wu, Yi Long ; Landi, Maria Teresa ; Shen, Hongbing ; Rothman, Nathaniel ; Kohno, Takashi ; Chanock, Stephen J. ; Lan, Qing. / Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations. In: Human Molecular Genetics. 2017 ; Vol. 26, No. 2. pp. 454-465.
@article{49f35823504743498b7f77530fe21706,
title = "Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations",
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.",
author = "Seow, {Wei Jie} and Keitaro Matsuo and Hsiung, {Chao Agnes} and Kouya Shiraishi and Minsun Song and Hee NamKim and Wong, {Maria Pik} and Hong, {Yun Chul} and {Dean Hosgood}, H. and Zhaoming Wang and Chang, {I. Shou} and Wang, {Jiu Cun} and Nilanjan Chatterjee and Margaret Tucker and Hu Wei and Tetsuya Mitsudomi and Wei Zheng and Kim, {Jin Hee} and Baosen Zhou and Caporaso, {Neil E.} and Demetrius Albanes and Shin, {Min Ho} and Chung, {Lap Ping} and An, {She Juan} and Wang, {Yong Ping} and Hong Zheng and Yasushi Yatabe and Zhang, {Xu Chao} and Kim, {Young Tae} and Shu, {Xiao Ou} and Kim, {Young Chul} and Bassig, {Bryan A.} and Jiang Chang and {Man Ho}, {James Chung} and Ji, {Bu Tian} and Michiaki Kubo and Yataro Daigo and Hidemi Ito and Yukihide Momozawa and Kyota Ashikawa and Yoichiro Kamatani and Takayuki Honda and Hiromi Sakamoto and Hideo Kunitoh and Koji Tsuta and Watanabe, {Shun Ichi} and Hiroshi Nokihara and Yohei Miyagi and Haruhiko Nakayama and Shingo Matsumoto and Masahiro Tsuboi and Koichi Goto and Zhihua Yin and Jianxin Shi and Atsushi Takahashi and Akiteru Goto and Yoshihiro Minamiya and Kimihiro Shimizu and Kazumi Tanaka and Tangchun Wu and Fusheng Wei and Wong, {Jason Y.Y.} and Fumihiko Matsuda and Jian Su and Kim, {Yeul Hong} and Oh, {In Jae} and Fengju Song and Lee, {Victor Ho Fun} and Su, {Wu Chou} and Chen, {Yuh Min} and Chang, {Gee Chen} and Chen, {Kuan Yu} and Huang, {Ming Shyan} and Yang, {Pan Chyr} and Lin, {Hsien Chih} and Xiang, {Yong Bing} and Adeline Seow and Park, {Jae Yong} and Kweon, {Sun Seog} and Chen, {Chien Jen} and Haixin Li and Gao, {Yu Tang} and Chen Wu and Biyun Qian and Daru Lu and Jianjun Liu and Jeon, {Hyo Sung} and Hsiao, {Chin Fu} and Sung, {Jae Sook} and Tsai, {Ying Huang} and Jung, {Yoo Jin} and Huan Guo and Zhibin Hu and Wang, {Wen Chang} and Chung, {Charles C.} and Charles Lawrence and Laurie Burdett and Meredith Yeager and Jacobs, {Kevin B.} and Amy Hutchinson and Berndt, {Sonja I.} and Xingzhou He and Wei Wu and Junwen Wang and Yuqing Li and Choi, {Jin Eun} and Park, {Kyong Hwa} and Sung, {Sook Whan} and Li Liu and Kang, {Chang Hyun} and Lingmin Hu and Chen, {Chung Hsing} and Yang, {Tsung Ying} and Jun Xu and Peng Guan and Wen Tan and Wang, {Chih Liang} and {Loon Sihoe}, {Alan Dart} and Ying Chen and Choi, {Yi Young} and Hung, {Jen Yu} and Kim, {Jun Suk} and Yoon, {Ho Il} and Qiuyin Cai and Lin, {Chien Chung} and Park, {In Kyu} and Ping Xu and Jing Dong and Christopher Kim and Qincheng He and Perng, {Reury Perng} and Chen, {Chih Yi} and Roel Vermeulen and Junjie Wu and Lim, {Wei Yen} and Chen, {Kun Chieh} and Chan, {John K C} and Minjie Chu and Li, {Yao Jen} and Jihua Li and Hongyan Chen and Yu, {Chong Jen} and Li Jin and Lo, {Yen Li} and Chen, {Ying Hsiang} and Fraumeni, {Joseph F.} and Jie Liu and Taiki Yamaji and Yang Yang and Belynda Hicks and Kathleen Wyatt and Li, {Shengchao A.} and Juncheng Dai and Hongxia Ma and Guangfu Jin and Bao Song and Zhehai Wang and Sensen Cheng and Xuelian Li and Yangwu Ren and Ping Cui and Motoki Iwasaki and Taichi Shimazu and Shoichiro Tsugane and Junjie Zhu and Gening Jiang and Ke Fei and Guoping Wu and Chien, {Li Hsin} and Chen, {Hui Ling} and Su, {Yu Chun} and Tsai, {Fang Yu} and Chen, {Yi Song} and Jinming Yu and Stevens, {Victoria L.} and Laird-Offringa, {Ite A.} and Marconett, {Crystal N.} and Dongxin Lin and Kexin Chen and Wu, {Yi Long} and Landi, {Maria Teresa} and Hongbing Shen and Nathaniel Rothman and Takashi Kohno and Chanock, {Stephen J.} and Qing Lan",
year = "2017",
doi = "10.1093/hmg/ddw414",
language = "English",
volume = "26",
pages = "454--465",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "2",

}

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, Yong 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

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

VL - 26

SP - 454

EP - 465

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 2

ER -