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

共 50 条

[1] Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma
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
Nature Communications, 7
[2] Association of variations in HLA-class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma
Shiraishi, Kouya
Okada, Yukinori
Momozawa, Yukihide
Kunitoh, Hideo
Shimizu, Kimihiro
Goto, Akiteru
Goto, Koichi
Matsuda, Fumihiko
Matsuo, Keitaro
Daigo, Yataro
Kubo, Michiaki
Kohno, Takashi
CANCER SCIENCE, 2018, 109 : 402 - 402
[3] Association of variations in HLA-class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma
Shiraishi, Kouya
Okada, Yukinori
Takahashi, Atsushi
Kamatani, Yoichiro
Ashikawa, Kyota
Momozawa, Yukihide
Kunitoh, Hideo
Matsumoto, Shingo
Takano, Atsushi
Shimizu, Kimihiro
Goto, Akiteru
Tsuta, Koji
Watanabe, Shun-ichi
Ohe, Yuichiro
Watanabe, Yukio
Goto, Yasishi
Nokihara, Hiroshi
Furuta, Koh
Yoshida, Akihiko
Goto, Koichi
Hishida, Tomoyuki
Tsuboi, Masahiro
Tsuchihara, Katsuya
Miyagi, Yohei
Nakamura, Haruhiko
Yokose, Tomoyuki
Tanaka, Katsuya
Nagashima, Toshiteru
Ohtaki, Yoichi
Maeda, Daichi
Imai, Kazuhiro
Minamiya, Yoshihiro
Sakamoto, Hiromi
Saito, Akira
Shimada, Yoko
Sunami, Kuniko
Saito, Motonobu
Yoshida, Teruhiko
Yokota, Jun
Matsuda, Fumihiko
Matsuo, Keitaro
Daigo, Yataro
Kubo, Michiaki
Kohno, Takashi
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2017, 26 (05)
[4] Association of Variations in HLA-Class II and Other Loci with Susceptibility to EGFR-Mutated Lung Adenocarcinonna
Shiraishi, Kouya
Okada, Yukinori
Takahashi, Atsushi
Kamatani, Yoichiro
Ashikawa, Kyota
Momozawa, Yukihide
Kunitoh, Hideo
Matsumoto, Shingo
Takano, Atsushi
Shimizu, Kimihiro
Goto, Akiteru
Tsuta, Koji
Watanabe, Shun-Ichi
Ohe, Yuichiro
Watanabe, Yukio
Goto, Yasishi
Nokihara, Hiroshi
Furuta, Koh
Yoshida, Akihiko
Goto, Koichi
Hishida, Tomoyuki
Tsuboi, Masahiro
Tsuchihara, Katsuya
Miyagi, Yohei
Nakamura, Haruhiko
Yokose, Tomoyuki
Tanaka, Katsuya
Nagashima, Toshiteru
Ohtaki, Yoichi
Maeda, Daichi
Imai, Kazuhiro
Minamiya, Yoshihiro
Shimada, Yoko
Sunami, Kuniko
Saito, Motonobu
Yokota, Jun
Matsuda, Fumihiko
Matsuo, Keitaro
Daigo, Yataro
Kubo, Michiaki
Kohno, Takashi
JOURNAL OF THORACIC ONCOLOGY, 2017, 12 (01) : S280 - S281
[5] PATIENTS WITH EGFR-MUTATED LUNG ADENOCARCINOMA AFTER PROGRESSION
Li, Ling
Tian, Jiyuan
Sun, Haiyan
ACTA MEDICA MEDITERRANEA, 2023, 39 (03): : 707 - 713
[6] Prognostic factors of EGFR-mutated metastatic adenocarcinoma of lung
Sing, Ng Kwok
Sun, Chu King
Ting, Kung Boom
Kun, Au Yong Ting
EUROPEAN JOURNAL OF RADIOLOGY, 2020, 123
[7] EGFR signaling regulates aerobic glycolysis in EGFR-mutated lung adenocarcinoma
Makinoshima, Hideki
Takita, Masahiro
Matsumoto, Shingo
Yagishita, Atsushi
Owada, Satoshi
Esumi, Hiroyasu
Tsuchihara, Katsuya
CANCER RESEARCH, 2014, 74 (19)
[8] Mucinous lung adenocarcinoma, particularly referring to EGFR-mutated mucinous adenocarcinoma
WakejiMa, Ryo
Inamura, Kentaro
Ninomiya, Hironori
Nagano, Hiroko
Mun, Mingyon
Okumura, Sakae
Okubo, Kenichi
Ishikawa, Yuichi
PATHOLOGY INTERNATIONAL, 2020, 70 (02) : 72 - 83
[9] Combined Small and Squamous Transformation in EGFR-mutated Lung Adenocarcinoma
Hakozaki, Taiki
Kitazono, Miyako
Takamori, Mikio
Kiriu, Takahiro
INTERNAL MEDICINE, 2020, 59 (10) : 1291 - 1294
[10] EGFR-Mutated Breast Metastasis of Lung Adenocarcinoma: A Case Report
Dansin, Eric
Carnot, Aurelien
Servent, Veronique
Daussay, Dorothee
Robin, Yves-Marie
Surmei-Pintilie, Ecaterina
Lauridant, Geraldine
Descarpentries, Clothilde
Revillion, Francoise
Delattre, Claire
CASE REPORTS IN ONCOLOGY, 2015, 8 (01): : 164 - 168

← 1 2 3 4 5 →