@article{oai:kanazawa-u.repo.nii.ac.jp:00056420, author = {前田, 大地 and Shiraishi, Kouya and Okada, Yukinori and Takahashi, Atsushi and Kamatani, Yoichiro and Momozawa, Yukihide and Ashikawa, Kyota and Kunitoh, Hideo and Matsumoto, Shingo and Takano, Atsushi and Shimizu, Kimihiro and Goto, Akiteru and Tsuta, Koji and Watanabe, Shun-ichi and Ohe, Yuichiro and Watanabe, Yukio and Goto, Yasushi and Nokihara, Hiroshi and Furuta, Koh and Yoshida, Akihiko and Goto, Koichi and Hishida, Tomoyuki and Tsuboi, Masahiro and Tsuchihara, Katsuya and Miyagi, Yohei and Tanaka, Kazumi and Nakayama, Haruhiko and Yokose, Tomoyuki and Nagashima, Toshiteru and Ohtaki, Yoichi and Maeda, Daichi and Imai, Kazuhiro and Minamiya, Yoshihiro and Sakamoto, Hiromi and Saito, Akira and Shimada, Yoko and Sunami, Kuniko and Saito, Motonobu and Inazawa, Johji and Nakamura, Yusuke and Yoshida, Teruhiko and Yokota, Jun and Matsuda, Fumihiko and Matsuo, Keitaro and Daigo, Yataro and Kubo, Michiaki and Kohno, Takashi}, journal = {Nature Research}, month = {Aug}, note = {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., 金沢大学医薬保健研究域医学系}, title = {Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma}, volume = {7}, year = {2016} }