机构：[1]State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China[2]Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA[3]Cancer Genome Research Laboratory, Division of Cancer Epidemiology and Genetics, Advanced Technology Program, SAIC-Frederick, Inc., NCI-Frederick, Frederick, Maryland, USA[4]Department of Pathology, Cancer Research Center, Basic Medical College, Xinxiang Medical University, Xinxiang, China[5]Henan Key Laboratory for Esophageal Cancer Research of The First Affiliated Hospital, Zhengzhou University, Zhengzhou, China[6]Department of Oncology, Pathology, Clinical Laboratory and Respiratory Medicine, The First Affiliated Hospital, Henan University of Science and Technology, Luoyang, China[7]Department of Thoracic Surgery, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China[8]Key Laboratory of Dermatology, Anhui Medical University, Anhui, China[9]Department of Epidemiology and Biostatistics, Cancer Center, Nanjing Medical University, Nanjing, China[10]Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University School of Oncology, Beijing Cancer Hospital and Institute, Beijing, China[11]State Key Laboratory of Oncology in Southern China, Sun Yat-Sen University Cancer Center, Guangzhou, China[12]Department of Experimental Research, Sun Yat-Sen University Cancer Center, Guangzhou, China[13]Laboratory of Cancer Molecular Genetics, Medical College of Soochow University, Suzhou, China[14]Department of Medicine, Vanderbilt University, Nashville, Tennessee, USA[15]Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, Tennessee, USA[16]University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania, USA[17]Anyang Tumor Hospital, Anyang, China[18]Department of Basic Oncology and Pathology at the College of Medicine, Zhengzhou University, Zhengzhou, China[19]Center for Cancer Research, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA[20]Shanxi Cancer Hospital, Taiyuan, China[21]Department of Epidemiology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China[22]Shanghai Cancer Institute, Shanghai, China[23]Duke–National University of Singapore Graduate Medical School, Singapore[24]Key Laboratory for Environment and Health (Ministry of Education), School of Public Health, Huazhong University of Sciences and Technology, Wuhan, China[25]Information Management Services, Inc.,Silver Spring, Maryland, USA[26]Department of Medical Oncology, Tumor Hospital of Linzhou, Linzhou, China[27]Department of Pathology and Thoracic Surgery, Centre for Health Screening and Endoscopy, Cixian Hospital, Cixian, China[28]Department of Gastroenterology, Henan Provincial People’s Hospital, Zhengzhou, China[29]Department of Hematology, Henan Provincial People’s Hospital, Zhengzhou, China[30]Central Laboratory, Henan Provincial People’s Hospital, Zhengzhou, China[31]Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA[32]Department of Basic Oncology, Pathology and Gastroenterology, The Second Affiliated Hospital, Zhengzhou University, Zhengzhou, China[33]Department of Oncology, The Second Affiliated Hospital of Nanyang Medical College, Nanyang, China[34]Department of Radiotherapy, Pathology and Pediatrics, Central Hospital of Xinxiang, Xinxiang, China[35]Department of Thoracic Surgery, Provincial Hospital affiliated to Shandong University, Jinan, China[36]Department of Thoracic Surgery and Radiotherapy, Cancer Hospital of Henan Province, Zhengzhou, China河南省肿瘤医院[37]Department of Internal Mongolia Medicine, The Affiliated Hospital, Inner Mongolia Medical College, Hohhot, China[38]Department of Biotechnology, Ningxia Medical University, Yinchuan, China[39]Department of Thoracic Surgery, Tumor Hospital of Shaanxi Province, Xi’an, China[40]Department of Thoracic and Cardiovascular Surgery, West China Hospital, Sichuan University, Chengdu, China四川大学华西医院[41]Department of Oncologic Pathology, Medical College of Shantou University, Shantou, China[42]Department of Biochemistry and Molecular Biology, Medical College of Shantou University, Shantou, China[43]Department of Oncology, Puyang City Oil Field General Hospital, Puyang, China[44]Department of Pathology and Thoracic Surgery, Linzhou Esophageal Cancer Hospital, Linzhou, China[45]Department of Gastroenterology and Thoracic Surgery, The First People’s Hospital of Shangqiu, Shangqiu, China[46]Department of Gastroenterology, Beijing Tongren Hospital affiliated to Capital Medical University, Beijing, China首都医科大学附属同仁医院[47]Department of Oncology, Xinyang Central Hospital, Xinyang, China[48]State Key Laboratory of Genetic Resource and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China[49]Department of Pathology, Shihezi University School of Medicine, Shihezi, China[50]Department of Thoracic Surgery, The First Affiliated Hospital, Xinjiang Medical University, Urumqi, China[51]Medical Research Center, The First Affiliated Hospital, Xinjiang Medical University, Urumqi, China[52]Institute of Hematologic Disease, Changzhi Medical University, Changzhi, China[53]Department of Pathology, Changzhi Medical University, Changzhi, China[54]Department of Surgery, Hebi Dahejian Hospital, Hebi, China[55]Anyang District Hospital, Anyang, China[56]Surgical Department of the Shanghai Public Health Clinical Center, Fudan University, Shanghai, China[57]Department of Anatomy, the Second Military Medical University of the Chinese People’s Liberation Army, Shanghai, China[58]Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China[59]Medical College of Wisconsin, Cancer Research Center, Milwaukee, Wisconsin, USA[60]National Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences, Beijing, China[61]College of Pharmaceutical Sciences, Zhejiang University, Hangzhou, China[62]Department of Environmental and Occupational Health, University of Medicine and Dentistry of New Jersey, Newark, New Jersey, USA
We conducted a joint (pooled) analysis of three genome-wide association studies (GWAS) of esophageal squamous cell carcinoma (ESCC) in individuals of Chinese ancestry (5,337 ESCC cases and 5,787 controls) with 9,654 ESCC cases and 10,058 controls for follow-up. In a logistic regression model adjusted for age, sex, study and two eigenvectors, two new loci achieved genome-wide significance, marked by rs7447927 at 5q31.2 (per-allele odds ratio (OR) = 0.85, 95% confidence interval (CI) = 0.82-0.88; P = 7.72 × 10(-20)) and rs1642764 at 17p13.1 (per-allele OR = 0.88, 95% CI = 0.85-0.91; P = 3.10 × 10(-13)). rs7447927 is a synonymous SNP in TMEM173, and rs1642764 is an intronic SNP in ATP1B2, near TP53. Furthermore, a locus in the HLA class II region at 6p21.32 (rs35597309) achieved genome-wide significance in the two populations at highest risk for ESSC (OR = 1.33, 95% CI = 1.22-1.46; P = 1.99 × 10(-10)). Our joint analysis identifies new ESCC susceptibility loci overall as well as a new locus unique to the population in the Taihang Mountain region at high risk of ESCC.
基金：
National High-Tech Research and Development Program of China (2009AA022706 to D.L.), the National Basic Research Program of China (2011CB504303 to D.L. and W.T.) and the National Natural Science Foundation of China (30721001 to D.L., Q.Z. and Z.L.).
第一作者机构：[1]State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
共同第一作者：
通讯作者：
通讯机构：[4]Department of Pathology, Cancer Research Center, Basic Medical College, Xinxiang Medical University, Xinxiang, China[5]Henan Key Laboratory for Esophageal Cancer Research of The First Affiliated Hospital, Zhengzhou University, Zhengzhou, China
推荐引用方式(GB/T 7714)：
Chen Wu,Zhaoming Wang,Xin Song,et al.Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.[J].NATURE GENETICS.2014,46(9):1001-+.doi:10.1038/ng.3064.
APA：
Chen Wu,Zhaoming Wang,Xin Song,Xiao-Shan Feng,Christian C Abnet...&Stephen J Chanock.(2014).Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations..NATURE GENETICS,46,(9)
MLA：
Chen Wu,et al."Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.".NATURE GENETICS 46..9(2014):1001-+
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