A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese

被引：323

作者：

Hu, Zhibin ^{[1
,2
,3
]}

Wu, Chen ^{[4
,5
,6
]}

Shi, Yongyong ^{[7
,8
]}

Guo, Huan ^{[9
,10
]}

Zhao, Xueying ^{[11
,12
]}

Yin, Zhihua ^{[13
]}

Yang, Lei ^{[14
]}

Dai, Juncheng ^{[1
]}

Hu, Lingmin ^{[1
]}

Tan, Wen ^{[4
,5
,6
]}

Li, Zhiqiang ^{[7
,8
]}

Deng, Qifei ^{[9
,10
]}

Wang, Jiucun ^{[11
,12
]}

Wu, Wei ^{[13
]}

Jin, Guangfu ^{[1
,2
]}

Jiang, Yue ^{[1
]}

Yu, Dianke ^{[4
,5
,6
]}

Zhou, Guoquan ^{[7
,8
]}

Chen, Hongyan ^{[11
,12
]}

Guan, Peng ^{[13
]}

Chen, Yijiang ^{[15
,16
]}

Shu, Yongqian ^{[15
,16
]}

Xu, Lin ^{[17
]}

Liu, Xiangyang ^{[6
,18
]}

Liu, Li ^{[19
]}

Xu, Ping ^{[20
]}

Han, Baohui ^{[21
]}

Bai, Chunxue ^{[22
]}

Zhao, Yuxia ^{[23
]}

Zhang, Haibo ^{[24
]}

Yan, Ying ^{[24
]}

Ma, Hongxia ^{[1
]}

Chen, Jiaping ^{[1
,2
]}

Chu, Mingjie ^{[1
]}

Lu, Feng ^{[1
]}

Zhang, Zhengdong ^{[1
]}

Chen, Feng ^{[1
]}

Wang, Xinru ^{[1
,3
]}

Jin, Li ^{[11
,12
]}

Lu, Jiachun ^{[14
]}

Zhou, Baosen ^{[13
]}

Lu, Daru ^{[11
,12
]}

Wu, Tangchun ^{[9
,10
]}

Lin, Dongxin ^{[4
,5
,6
]}

Shen, Hongbing ^{[1
,2
,3
]}

机构：

[1] Nanjing Med Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Minist Educ,Key Lab Modern Toxicol, Nanjing, Peoples R China

[2] Nanjing Med Univ, Clin Epidemiol Sect, Jiangsu Key Lab Canc Biomarkers Prevent & Treatme, Ctr Canc, Nanjing, Peoples R China

[3] Nanjing Med Univ, State Key Lab Reprod Med, Nanjing, Peoples R China

[4] Chinese Acad Med Sci, Canc Inst & Hosp, State Key Lab Mol Oncol, Beijing 100730, Peoples R China

[5] Chinese Acad Med Sci, Canc Inst & Hosp, Dept Etiol & Carcinogenesis, Beijing 100730, Peoples R China

[6] Peking Union Med Coll, Beijing 100021, Peoples R China

[7] Shanghai Jiao Tong Univ, Bio X Ctr, Shanghai 200030, Peoples R China

[8] Shanghai Jiao Tong Univ, Affiliated Changning Mental Hlth Ctr, Minist Educ, Key Lab Genet Dev & Neuropsychiat Disorders, Shanghai 200030, Peoples R China

[9] Huazhong Univ Sci & Technol, Tongji Med Coll, Sch Publ Hlth, Inst Occupat Med, Wuhan 430074, Peoples R China

[10] Huazhong Univ Sci & Technol, Tongji Med Coll, Sch Publ Hlth, Minist Educ,Key Lab Environm & Hlth, Wuhan 430074, Peoples R China

[11] Fudan Univ, State Key Lab Genet Engn, Ctr Fudan VARI Genet Epidemiol, Shanghai 200433, Peoples R China

[12] Fudan Univ, MOE, Key Lab Contemporary Anthropol, Sch Life Sci, Shanghai 200433, Peoples R China

[13] China Med Univ, Dept Epidemiol, Sch Publ Hlth, Shenyang, Peoples R China

[14] Guangzhou Med Coll, State Key Lab Resp Dis, Inst Chem Carcinogenesis, Guangzhou, Guangdong, Peoples R China

[15] Nanjing Med Univ, Affiliated Hosp 1, Dept Thorac Surg, Nanjing, Peoples R China

[16] Nanjing Med Univ, Affiliated Hosp 1, Dept Oncol, Nanjing, Peoples R China

[17] Nanjing Med Univ, Jiangsu Canc Hosp, Affiliated Canc Hosp, Dept Thorac Surg, Nanjing, Peoples R China

[18] Chinese Acad Med Sci, Canc Hosp, Dept Thorac Surg, Beijing 100730, Peoples R China

[19] Huazhong Univ Sci & Technol, Tongji Med Coll, Union Hosp, Ctr Canc, Wuhan 430074, Peoples R China

[20] Corp Staff Worker Hosp, Wuhan Iron & Steel Grp, Dept Oncol, Wuhan, Peoples R China

[21] Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Resp Dis, Shanghai 200030, Peoples R China

[22] Fudan Univ, Zhongshan Hosp, Dept Resp Dis, Shanghai 200433, Peoples R China

[23] China Med Univ, Affiliated Hosp 1, Dept Radiat Oncol, Shenyang, Peoples R China

[24] Shenyang No Hosp, Dept Radiotherapy, Shenyang, Peoples R China

来源：

NATURE GENETICS | 2011年 / 43卷 / 08期

基金：

中国国家自然科学基金;

关键词：

RISK; VARIANT; 15Q25; INFLAMMATION; POPULATIONS; 5P15.33; IMPACT; CELLS; STAT3; MAPS;

D O I：

10.1038/ng.875

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Lung cancer is the leading cause of cancer-related deaths worldwide. To identify genetic factors that modify the risk of lung cancer in individuals of Chinese ancestry, we performed a genome-wide association scan in 5,408 subjects (2,331 individuals with lung cancer (cases) and 3,077 controls) followed by a two-stage validation among 12,722 subjects (6,313 cases and 6,409 controls). The combined analyses identified six well-replicated SNPs with independent effects and significant lung cancer associations (P < 5.0 x 10(-8)) located in TP63 (rs4488809 at 3q28, P = 7.2 x 10(-26)), TERT-CLPTM1L (rs465498 and rs2736100 at 5p15.33, P = 1.2 x 10(-20) and P = 1.0 x 10(-27), respectively), MIPEP-TNFRSF19 (rs753955 at 13q12.12, P = 1.5 x 10(-12)) and MTMR3-HORMAD2-LIF (rs17728461 and rs36600 at 22q12.2, P = 1.1 x 10(-11) and P = 6.2 x 10(-13), respectively). Two of these loci (13q12.12 and 22q12.2) were newly identified in the Chinese population. These results suggest that genetic variants in 3q28, 5p15.33, 13q12.12 and 22q12.2 may contribute to the susceptibility of lung cancer in Han Chinese.

引用

页码：792 / U103

页数：7

共 28 条

[1] Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1 [J].

Amos, Christopher I. ;

Wu, Xifeng ;

Broderick, Peter ;

Gorlov, Ivan P. ;

Gu, Jian ;

Eisen, Timothy ;

Dong, Qiong ;

Zhang, Qing ;

Gu, Xiangjun ;

Vijayakrishnan, Jayaram ;

Sullivan, Kate ;

Matakidou, Athena ;

Wang, Yufei ;

Mills, Gordon ;

Doheny, Kimberly ;

Tsai, Ya-Yu ;

Chen, Wei Vivien ;

Shete, Sanjay ;

Spitz, Margaret R. ;

Houlston, Richard S. .

NATURE GENETICS, 2008, 40 (05) :616-622

[2] Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[3] A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci [J].

Bei, Jin-Xin ;

Li, Yi ;

Jia, Wei-Hua ;

Feng, Bing-Jian ;

Zhou, Gangqiao ;

Chen, Li-Zhen ;

Feng, Qi-Sheng ;

Low, Hui-Qi ;

Zhang, Hongxing ;

He, Fuchu ;

Tai, E. Shyong ;

Kang, Tiebang ;

Liu, Edison T. ;

Liu, Jianjun ;

Zeng, Yi-Xin .

NATURE GENETICS, 2010, 42 (07) :599-U173

[4] Deciphering the Impact of Common Genetic Variation on Lung Cancer Risk: A Genome-Wide Association Study [J].

Broderick, Peter ;

Wang, Yufei ;

Vijayakrishnan, Jayaram ;

Matakidou, Athena ;

Spitz, Margaret R. ;

Eisen, Timothy ;

Amos, Christopher I. ;

Houlston, Richard S. .

CANCER RESEARCH, 2009, 69 (16) :6633-6641

[5] Gprc5a Deletion Enhances the Transformed Phenotype in Normal and Malignant Lung Epithelial Cells by Eliciting Persistent Stat3 Signaling Induced by Autocrine Leukemia Inhibitory Factor [J].

Chen, Yulong ;

Deng, Jiong ;

Fujimoto, Junya ;

Kadara, Humam ;

Men, Taoyan ;

Lotan, Dafna ;

Lotan, Reuben .

CANCER RESEARCH, 2010, 70 (21) :8917-8926

[6] Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin [J].

Chew, A ;

Sirugo, G ;

Alsobrook, JP ;

Isaya, G .

GENOMICS, 2000, 65 (02) :104-112

[7] TAJ, a novel member of the tumor necrosis factor receptor family, activates the c-Jun N-terminal kinase pathway and mediates caspase-independent cell death [J].

Eby, MT ;

Jasmin, A ;

Kumar, A ;

Sharma, K ;

Chaudhary, PM .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (20) :15336-15342

[8] Functional Promoter-1271G>C Variant of HSPB1 Predicts Lung Cancer Risk and Survival [J].

Guo, Huan ;

Bai, Yun ;

Xu, Ping ;

Hu, Zhibin ;

Liu, Li ;

Wang, Fang ;

Jin, Guangfu ;

Wang, Feng ;

Deng, Qifei ;

Tu, Yixiao ;

Feng, Maohui ;

Lu, Daru ;

Shen, Hongbing ;

Wu, Tangchun .

JOURNAL OF CLINICAL ONCOLOGY, 2010, 28 (11) :1928-1935

[9] A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25 [J].

Hung, Rayjean J. ;

Mckay, James D. ;

Gaborieau, Valerie ;

Boffetta, Paolo ;

Hashibe, Mia ;

Zaridze, David ;

Mukeria, Anush ;

Szeszenia-Dabrowska, Neonilia ;

Lissowska, Jolanta ;

Rudnai, Peter ;

Fabianova, Eleonora ;

Mates, Dana ;

Bencko, Vladimir ;

Foretova, Lenka ;

Janout, Vladimir ;

Chen, Chu ;

Goodman, Gary ;

Field, John K. ;

Liloglou, Triantafillos ;

Xinarianos, George ;

Cassidy, Adrian ;

McLaughlin, John ;

Liu, Geoffrey ;

Narod, Steven ;

Krokan, Hans E. ;

Skorpen, Frank ;

Elvestad, Maiken Bratt ;

Hveem, Kristian ;

Vatten, Lars ;

Linseisen, Jakob ;

Clavel-Chapelon, Francoise ;

Vineis, Paolo ;

Bueno-de-Mesquita, H. Bas ;

Lund, Eiliv ;

Martinez, Carmen ;

Bingham, Sheila ;

Rasmuson, Torgny ;

Hainaut, Pierre ;

Riboli, Elio ;

Ahrens, Wolfgang ;

Benhamou, Simone ;

Lagiou, Pagona ;

Trichopoulos, Dimitrios ;

Holcatova, Ivana ;

Merletti, Franco ;

Kjaerheim, Kristina ;

Agudo, Antonio ;

Macfarlane, Gary ;

Talamini, Renato ;

Simonato, Lorenzo .

NATURE, 2008, 452 (7187) :633-637

[10] A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma [J].

Landi, Maria Teresa ;

Chatterjee, Nilanjan ;

Yu, Kai ;

Goldin, Lynn R. ;

Goldstein, Alisa M. ;

Rotunno, Melissa ;

Mirabello, Lisa ;

Jacobs, Kevin ;

Wheeler, William ;

Yeager, Meredith ;

Bergen, Andrew W. ;

Li, Qizhai ;

Consonni, Dario ;

Pesatori, Angela C. ;

Wacholder, Sholom ;

Thun, Michael ;

Diver, Ryan ;

Oken, Martin ;

Virtamo, Jarmo ;

Albanes, Demetrius ;

Wang, Zhaoming ;

Burdette, Laurie ;

Doheny, Kimberly F. ;

Pugh, Elizabeth W. ;

Laurie, Cathy ;

Brennan, Paul ;

Hung, Rayjean ;

Gaborieau, Valerie ;

McKay, James D. ;

Lathrop, Mark ;

McLaughlin, John ;

Wang, Ying ;

Tsao, Ming-Sound ;

Spitz, Margaret R. ;

Wang, Yufei ;

Krokan, Hans ;

Vatten, Lars ;

Skorpen, Frank ;

Arnesen, Egil ;

Benhamou, Simone ;

Bouchard, Christine ;

Metsapalu, Andres ;

Vooder, Tonu ;

Nelis, Mari ;

Vaelk, Kristian ;

Field, John K. ;

Chen, Chu ;

Goodman, Gary ;

Sulem, Patrick ;

Thorleifsson, Gudmar .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (05) :679-691

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