Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma

被引：44

作者：

Shiraishi, Kouya ^{[1
]}

Okada, Yukinori ^{[2
,3
,4
]}

Takahashi, Atsushi ^{[4
,5
]}

Kamatani, Yoichiro ^{[4
]}

Momozawa, Yukihide ^{[6
]}

Ashikawa, Kyota ^{[6
]}

Kunitoh, Hideo ^{[7
]}

Matsumoto, Shingo ^{[8
]}

Takano, Atsushi ^{[9
,10
,11
]}

Shimizu, Kimihiro ^{[12
]}

Goto, Akiteru ^{[13
]}

Tsuta, Koji ^{[14
,15
]}

Watanabe, Shun-ichi

Ohe, Yuichiro ^{[16
]}

Watanabe, Yukio

Goto, Yasushi ^{[16
]}

Nokihara, Hiroshi ^{[16
]}

Furuta, Koh ^{[17
,18
]}

Yoshida, Akihiko ^{[14
]}

Goto, Koichi ^{[19
]}

Hishida, Tomoyuki ^{[20
]}

Tsuboi, Masahiro ^{[20
]}

Tsuchihara, Katsuya ^{[8
]}

Miyagi, Yohei ^{[21
]}

Nakayama, Haruhiko ^{[22
]}

Yokose, Tomoyuki ^{[23
]}

Tanaka, Kazumi

Nagashima, Toshiteru ^{[12
]}

Ohtaki, Yoichi

Maeda, Daichi ^{[13
]}

Imai, Kazuhiro ^{[24
]}

Minamiya, Yoshihiro ^{[24
]}

Sakamoto, Hiromi ^{[25
]}

Saito, Akira ^{[26
]}

Shimada, Yoko ^{[1
]}

Sunami, Kuniko ^{[17
]}

Saito, Motonobu ^{[1
]}

Inazawa, Johji ^{[27
,28
,29
]}

Nakamura, Yusuke ^{[30
,31
]}

Yoshida, Teruhiko ^{[25
]}

Yokota, Jun ^{[32
]}

Matsuda, Fumihiko ^{[33
]}

Matsuo, Keitaro ^{[34
]}

Daigo, Yataro ^{[9
,11
]}

Kubo, Michiaki ^{[6
]}

Kohno, Takashi ^{[1
]}

机构：

[1] Natl Canc Ctr, Div Genome Biol, Tokyo 1040045, Japan

[2] Tokyo Med & Dent Univ, Dept Human Genet & Dis Div, Grad Sch Med & Dent Sci, Tokyo 1138510, Japan

[3] Osaka Univ, Grad Sch ofMedicine, Dept Stat Genet, Yokohama, Kanagawa 2300045, Japan

[4] RIKEN, Ctr Integrat Med Sci, Lab Stat Anal, Yokohama, Kanagawa 2300045, Japan

[5] Natl Cerebral & Cardiovasc Ctr, Omics Res Ctr, Osaka 5658565, Japan

[6] RIKEN, Ctr Integrat Med Sci, Lab Genotyping Dev, Yokohama, Kanagawa 1138510, Japan

[7] Japanese Red Cross Med Ctr, Dept Med Oncol, Tokyo 1500012, Japan

[8] Natl Canc Ctr Res Inst, Div Translat Res, Exploratory Oncol Res & Clin Trial CtrPOC, Kashiwa, Chiba 2770882, Japan

[9] Univ Tokyo, Ctr Antibody & Vaccine Therapy, Res Hosp, Inst Med Sci, Tokyo 1080071, Japan

[10] Shiga Univ Med Sci, Dept Med Oncol, Otsu, Shiga 5202121, Japan

[11] Shiga Univ Med Sci, Ctr Canc, Otsu, Shiga 5202121, Japan

[12] Gunma Univ Hosp, Dept Integrat Ctr Gen Surg, Gunma 3718511, Japan

[13] Akita Univ, Dept Cellular & Organ Pathol, Grad Sch Med, Akita 0108543, Japan

[14] Natl Canc Ctr, Dept Pathol, Tokyo 1040045, Japan

[15] Kansai Med Univ, Dept Pathol & Lab Med, Osaka 5731010, Japan

[16] Natl Canc Ctr, Div Thorac Surg, Tokyo 1040045, Japan

[17] Natl Canc Ctr, Dept Clin Labs, Tokyo 1040045, Japan

[18] Kanagawa Canc Ctr, Div Clin Lab, Yokohama, Kanagawa 2410815, Japan

[19] Natl Canc Ctr Hosp East, Dept Thorac Oncol, Kashiwa, Chiba 2770882, Japan

[20] Natl Canc Ctr Hosp East, Dept Thorac Surg, Kashiwa, Chiba 2770882, Japan

[21] Kanagawa Canc Ctr, Mol Pathol & Genet Div, Yokohama, Kanagawa 2410815, Japan

[22] Kanagawa Canc Ctr, Dept Thorac Surg, Yokohama, Kanagawa 2410815, Japan

[23] Kanagawa Canc Ctr, Dept Pathol, Yokohama, Kanagawa 2410815, Japan

[24] Akita Univ, Grad Sch Med, Dept Thorac Surg, Akita 0108543, Japan

[25] Natl Canc Ctr, Div Genet, Tokyo 1040045, Japan

[26] StaGen Co Ltd, Tokyo 1110051, Japan

[27] Tokyo Med & Dent Univ, Med Res Inst, Dept Mol Cytogenet, Tokyo 1138510, Japan

[28] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Tokyo 1138510, Japan

[29] Tokyo Med & Dent Univ, Bioresource Res Ctr, Tokyo 1138510, Japan

[30] Univ Chicago, Dept Med, Ctr Personalized Therapeut, 5841 S Maryland Ave, Chicago, IL 60637 USA

[31] Univ Chicago, Dept Surg, Ctr Personalized Therapeut, 5841 S Maryland Ave, Chicago, IL 60637 USA

[32] Inst Predict & Personalized Med Canc IMPPC, Genom & Epigen Canc Predict Program, Badalona 08916, Spain

[33] Kyoto Univ, Grad Sch Med, Ctr Genom Med, Kyoto 6068501, Japan

[34] Aichi Canc Ctr Res Inst, Div Div Mol Med, Chikusa Ku, Nagoya, Aichi 4648681, Japan

来源：

NATURE COMMUNICATIONS | 2016年 / 7卷

基金：

日本学术振兴会;

关键词：

GENOME-WIDE ASSOCIATION; NEVER SMOKERS; CANCER; RISK; MUTATIONS; JAPANESE; SMOKING; POLYMORPHISM; VARIANTS; FUSIONS;

D O I：

10.1038/ncomms12451

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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 x 10(-17), per-allele OR = 1.36) and 6p21.1 (FOXP4) (rs2495239; P = 3.9 x 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.

引用

页数：7

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