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Association of mitochondrial haplogroup D and risk of esophageal cancer in Taihang Mountain and Chaoshan areas in China
Authors:Xiao-Yun Li  Yu-Bai Guo  Min Su  Lu Cheng  Zu-Hong Lu  Dong-Ping Tian
Institution:1. Department of Pathology, The Key Immunopathology Laboratory of Guangdong Province, Shantou University Medical College, Shantou, Guangdong Province 515031, China;2. State Key Laboratory of Bioelectronics, Southeast University, Nanjing, Jiangsu Province 210096, China;3. Department of Pathology, The First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong Province 515031, China;1. Division of Urology, Ann and Robert H. Lurie Children’s Hospital, Chicago, Illinois;2. Department of Radiology, Ann and Robert H. Lurie Children’s Hospital, Chicago, Illinois;3. Biostatistics Research Core, Stanley Manne Research Institute, Chicago, Illinois;1. Department of Urology, State University of New York Upstate Medical University, Syracuse, New York;2. Department of Pathology, State University of New York Upstate Medical University, Syracuse, New York;3. Department of Urology, University of Rochester, Rochester, New York;4. Department of Obstetrics and Gynecology, University of Rochester, Rochester, New York;1. Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610041, China;2. The Institute of Forensic Science and Technology, Henan Provincial Public Security Bureau, Zhengzhou 450003, China;3. Beijing Police College, Beijing 102202, China;4. Department of Forensic genetics, Brain Hospital of Hunan Province, Hunan University of Chinese Medicine, Changsha 410007, China;5. Criminal Detection Unit of Qingxiu District Public Security Sub-bureau in Nanning, Nanning 530000, China;6. Department of Forensic Science, Zhejiang Police College, Hangzhou 310053, China;7. Forensic Science Institute of Zhejiang Di’an Diagnosis Technology Co., Ltd, Hangzhou 310012, China;8. Forensic Science Center Zhongding Guangdong, Zhanjiang 524000, China;9. Beijing Tongda Shoucheng Institute of Forensic Science, Beijing 100085, China;1. Endoscopy Division, National Cancer Center Hospital, Tokyo, Japan;2. Pathology Division, National Cancer Center Hospital, Tokyo, Japan;3. Esophageal Surgery Division, National Cancer Center Hospital, Tokyo, Japan
Abstract:Both the Taihang Mountain area in north-central China and Chaoshan area in the southeastern littoral of China are areas with high risk of esophageal cancer (EC). Our previous study confirmed that populations from the two areas might share similar matrilineal backgrounds and found that mitochondrial DNA (mtDNA) haplogroup D, especially subhaplogroups D4a and D5a, might be genetic background markers of EC in Chaoshan area. Here, to further determine whether D4a, D5a, and D might be susceptibility markers for EC in the two high-risk areas, we performed a case–control study with larger samples and analyzed the distributions of these three haplogroups in subjects (controls n = 898] and patients n = 768]) from the two areas. D4a haplogroup was significantly associated with increased risk of EC in Taihang Mountain subjects, especially women. D5 haplogroup was associated with EC at the general population level in the Taihang Mountain area and in subjects ≤ 60 years, especially women ≤ 60 years, in the Chaoshan area. D haplogroup was associated with EC only in subjects ≤ 60 years, especially men ≤ 60 years, in the Chaoshan area. D4a and D5 showing positive association with EC in the Taihang Mountain area became the predominant subhaplogroups of D in Chaoshan controls. In conclusion, D, D4a, and D5 haplogroups might be susceptibility markers for EC in the two high-risk areas in China, particularly D4a and D5 for the Taihang Mountain area and D and D5 for the Chaoshan area.
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