Title |
Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma
|
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Published in |
Nature Communications, August 2016
|
DOI | 10.1038/ncomms12451 |
Pubmed ID | |
Authors |
Kouya Shiraishi, Yukinori Okada, Atsushi Takahashi, Yoichiro Kamatani, Yukihide Momozawa, Kyota Ashikawa, Hideo Kunitoh, Shingo Matsumoto, Atsushi Takano, Kimihiro Shimizu, Akiteru Goto, Koji Tsuta, Shun-ichi Watanabe, Yuichiro Ohe, Yukio Watanabe, Yasushi Goto, Hiroshi Nokihara, Koh Furuta, Akihiko Yoshida, Koichi Goto, Tomoyuki Hishida, Masahiro Tsuboi, Katsuya Tsuchihara, Yohei Miyagi, Haruhiko Nakayama, Tomoyuki Yokose, Kazumi Tanaka, Toshiteru Nagashima, Yoichi Ohtaki, Daichi Maeda, Kazuhiro Imai, Yoshihiro Minamiya, Hiromi Sakamoto, Akira Saito, Yoko Shimada, Kuniko Sunami, Motonobu Saito, Johji Inazawa, Yusuke Nakamura, Teruhiko Yoshida, Jun Yokota, Fumihiko Matsuda, Keitaro Matsuo, Yataro Daigo, Michiaki Kubo, Takashi Kohno |
Abstract |
Lung adenocarcinoma driven by somatic EGFR mutations is more prevalent in East Asians (30-50%) than in European/Americans (10-20%). Here we investigate genetic factors underlying the risk of this disease by conducting a genome-wide association study, followed by two validation studies, in 3,173 Japanese patients with EGFR mutation-positive lung adenocarcinoma and 15,158 controls. Four loci, 5p15.33 (TERT), 6p21.3 (BTNL2), 3q28 (TP63) and 17q24.2 (BPTF), previously shown to be strongly associated with overall lung adenocarcinoma risk in East Asians, were re-discovered as loci associated with a higher susceptibility to EGFR mutation-positive lung adenocarcinoma. In addition, two additional loci, HLA class II at 6p21.32 (rs2179920; P =5.1 × 10(-17), per-allele OR=1.36) and 6p21.1 (FOXP4) (rs2495239; P=3.9 × 10(-9), per-allele OR=1.19) were newly identified as loci associated with EGFR mutation-positive lung adenocarcinoma. This study indicates that multiple genetic factors underlie the risk of lung adenocarcinomas with EGFR mutations. |
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Geographical breakdown
Country | Count | As % |
---|---|---|
Switzerland | 3 | 27% |
Greece | 1 | 9% |
France | 1 | 9% |
United Kingdom | 1 | 9% |
Unknown | 5 | 45% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 9 | 82% |
Scientists | 1 | 9% |
Practitioners (doctors, other healthcare professionals) | 1 | 9% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 56 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 12 | 21% |
Other | 6 | 11% |
Student > Ph. D. Student | 5 | 9% |
Student > Bachelor | 4 | 7% |
Professor | 3 | 5% |
Other | 9 | 16% |
Unknown | 17 | 30% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 14 | 25% |
Medicine and Dentistry | 10 | 18% |
Biochemistry, Genetics and Molecular Biology | 5 | 9% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 5% |
Mathematics | 2 | 4% |
Other | 3 | 5% |
Unknown | 19 | 34% |