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| DOI | 10.1038/s41467-019-12608-5 |
| A genome-wide association study identifies six novel risk loci for primary biliary cholangitis | |
| Qiu, Fang1; Tang, Ruqi2; Zuo, Xianbo3; Shi, Xingjuan1; Wei, Yiran2; Zheng, Xiaodong3; Dai, Yaping4; Gong, Yuhua5; Wang, Lan6; Xu, Ping7; Zhu, Xiang7; Wu, Jian8; Han, Chongxu9; Gao, Yueqiu10; Zhang, Kui11; Jiang, Yuzhang12; Zhou, Jianbo13; Shao, Youlin14; Hu, Zhigang15; Tian, Ye16; Zhang, Haiyan2; Dai, Na17; Liu, Lei18; Wu, Xudong19; Zhao, Weifeng8; Zhang, Xiaomin20; Zang, Zhidong21; Nie, Jinshan22; Sun, Weihao23; Zhao, Yi24; Mao, Yuan25; Jiang, Po26; Ji, Hualiang27; Dong, Qing28; Li, Junming29; Li, Zhenzhong30; Bai, Xinli30; Li, Li31; Lin, Maosong32; Dong, Ming1; Li, Jinxin1; Zhu, Ping1; Wang, Chan1; Zhang, Yanqiu1; Jiang, Peng1; Wang, Yujue1; Jawed, Rohil1; Xu, Jing1; Zhang, Yu1; Wang, Qixia2; Yang, Yue2; Yang, Fan2; Lian, Min2; Jiang, Xiang2; Xiao, Xiao2; Li, Yanmei2; Fang, Jingyuan2; Qiu, Dekai2; Zhu, Zhen14; Qiu, Hong6; Zhang, Jianqiong1; Tian, Wenyan8; Chen, Sufang7; Jiang, Ling8; Ji, Bing6; Li, Ping6; Chen, Guochang18; Wu, Tianxue9; Sun, Yan9; Yu, Jianjiang13,33; Tang, Huijun13; He, Michun8; Xia, Min15; Pei, Hao4; Huang, Lihua4; Qing, Zhuye25; Wu, Jianfang; Huang, Qinghai1; Han, Junhai1; Xie, Wei1; Sun, Zhongsheng34; Guo, Jian35; He, Gengsheng36; Gershwin, M. Eric37; Lian, Zhexiong38; Liu, Xiang39; Seldin, Michael F.37; Liu, Xiangdong1; Chen, Weichang8; Ma, Xiong2 | |
| 2019-10-17 | |
| 发表期刊 | NATURE COMMUNICATIONS
 |
| ISSN | 2041-1723 |
| 出版年 | 2017 |
| 卷号 | 8 |
| 文章类型 | Article |
| 语种 | 英语 |
| 国家 | Peoples R China; USA |
| 英文摘要 | Primary biliary cholangitis (PBC) is an autoimmune liver disease with a strong hereditary component. Here, we report a genome-wide association study that included 1,122 PBC cases and 4,036 controls of Han Chinese descent, with subsequent replication in a separate cohort of 907 PBC cases and 2,127 controls. Our results show genome-wide association of 14 PBC risk loci including previously identified 6p21 (HLA-DRA and DPB1), 17q12 (ORMDL3), 3q13.33 (CD80), 2q32.3 (STAT1/STAT4), 3q25.33 (IL12A), 4q24 (NF-kappa B) and 22q13.1 (RPL3/SYNGR1). We also identified variants in IL21, IL21R, CD28/CTLA4/ICOS, CD58, ARID3A and IL16 as novel PBC risk loci. These new findings and histochemical studies showing enhanced expression of IL21 and IL21R in PBC livers (particularly in the hepatic portal tracks) support a disease mechanism in which the deregulation of the IL21 signalling pathway, in addition to CD4 T-cell activation and T-cell co-stimulation are critical components in the development of PBC. |
| 领域 | 资源环境 |
| 收录类别 | SCI-E |
| WOS记录号 | WOS:000399580300001 |
| WOS关键词 | SUSCEPTIBILITY LOCI ; GENETIC-VARIANTS ; CIRRHOSIS ; EXPRESSION ; TNFSF15 ; INTERLEUKIN-16 ; VISUALIZATION ; CELLS |
| WOS类目 | Multidisciplinary Sciences |
| WOS研究方向 | Science & Technology - Other Topics |
| URL | 查看原文 |
| 引用统计 | |
| 文献类型 | 期刊论文 |
| 条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/204596 |
| 专题 | 资源环境科学 |
| 作者单位 | 1.Southeast Univ, Key Lab Dev Genes & Human Dis, Inst Life Sci, Nanjing 210096, Jiangsu, Peoples R China; 2.Shanghai Jiao Tong Univ, Dept Gastroenterol & Hepatol, Renji Hosp, Sch Med,Shanghai Inst Digest Dis, Shanghai 200001, Peoples R China; 3.Anhui Med Univ, Dept Dermatol, Hosp 1, Inst Dermatol, Hefei 230022, Anhui, Peoples R China; 4.Fifth Peoples Hosp Wuxi, Dept Lab Med, Wuxi 214005, Jiangsu, Peoples R China; 5.Third Peoples Hosp Zhenjiang, Dept Lab Med, Zhenjiang 212005, Jiangsu, Peoples R China; 6.81th Hosp PLA, Dept Lab Med, Nanjing 210002, Jiangsu, Peoples R China; 7.Soochow Univ, Peoples Hosp Suzhou 5, Dept Lab Med, Suzhou 215007, Jiangsu, Peoples R China; 8.Soochow Univ, Dept Rheumatol, Dept Gastroenterol, Affiliated Hosp 1, Suzhou 215006, Jiangsu, Peoples R China; 9.Yangzhou Univ, Dept Lab Med, Subei Peoples Hosp, Clin Med Coll, Yangzhou 225001, Jiangsu, Peoples R China; 10.Shanghai Univ Tradit Chinese Med, Dept Hepatol, Shuguang Hosp, Shanghai 200021, Peoples R China; 11.Nanjing Univ, Med Sch, Dept Lab Med, Nanjing Drum Tower Hosp,Affiliated Hosp, Nanjing 210008, Jiangsu, Peoples R China; 12.Nanjing Med Univ, Dept Lab Med, Huaian Peoples Hosp 1, Huaian 223300, Jiangsu, Peoples R China; 13.Southeast Univ, Dept Lab Med, Jiangyin Peoples Hosp, Jiangyin 214400, Jiangsu, Peoples R China; 14.Third Peoples Hosp Changzhou, Dept Lab Med, Changzhou 213000, Jiangsu, Peoples R China; 15.Nanjing Med Univ, Dept Lab Med, Affiliated Wuxi Peoples Hosp, Wuxi 214023, Jiangsu, Peoples R China; 16.Soochow Univ, Dept Radiol, Affiliated Hosp 2, Suzhou 215004, Jiangsu, Peoples R China; 17.Jiangsu Univ, Affiliated Kunshan Hosp, Dept Gastroenterol, Kunshan 215300, Jiangsu, Peoples R China; 18.Yixing Peoples Hosp, Dept Gastroenterol, Yixing 214200, Jiangsu, Peoples R China; 19.Yancheng First Peoples Hosp, Dept Gastroenterol, Yancheng 224005, Jiangsu, Peoples R China; 20.Southeast Univ, Dept Lab Med, Univ Hosp, Nanjing 210096, Jiangsu, Peoples R China; 21.Southeast Univ, Dept Hepatol, Hosp Nanjing 2, Nanjing 210003, Jiangsu, Peoples R China; 22.Soochow Univ, Dept Gastroenterol, Taicang Peoples Hosp 1, Taicang 215400, Jiangsu, Peoples R China; 23.Nanjing Med Univ, Dept Gastroenterol, Affiliated Hosp 1, Nanjing 210029, Jiangsu, Peoples R China; 24.Eastern Hepatobiliary Surg Hosp, Dept Gastroenterol, Shanghai 201805, Peoples R China; 25.Nanjing Kingmed Clin Lab Co Ltd, Dept Immunol, Nanjing 210042, Jiangsu, Peoples R China; 26.Second Peoples Hosp Jingjiang, Dept Hepatol, Jingjiang 214500, Jiangsu, Peoples R China; 27.Nantong Univ, Med Sch, Dept Gastroenterol, Haian Peoples Hosp, Haian 226600, Jiangsu, Peoples R China; 28.Suzhou Hosp Tradit Chinese Med, Dept Lab Med, Suzhou 215009, Jiangsu, Peoples R China; 29.Nanchang Univ, Dept Lab Med, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China; 30.Hebei Med Univ, Dept Paediat, Hosp 2, Shijiazhuang 050000, Herts, Peoples R China; 31.Southeast Univ, Dept Lab Med, Zhongda Hosp, Sch Med, Nanjing 210009, Jiangsu, Peoples R China; 32.Taizhou Peoples Hosp, Dept Gastroenterol, Taizhou 225300, Jiangsu, Peoples R China; 33.Tradit Chinese Med Hosp Kunshan, Dept Hepatol, Kunshan 215300, Peoples R China; 34.Chinese Acad Sci, Dept Gen & Epigen, Beijing Inst Life Sci, Beijing 100101, Peoples R China; 35.Beijing Hosp, Dept Gerontol, Beijing 100730, Peoples R China; 36.Fudan Univ, Dept Nutr & Hlth, Sch Publ Hlth, Shanghai 200032, Peoples R China; 37.Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Rowe Program Genet, Davis, CA 95616 USA; 38.Univ Sci & Technol, Dept Immunol, Sch Life Sci, Hefei 230027, Anhui, Peoples R China; 39.Hainan Med Univ, Dept Stomatol, Affiliated Hosp 1, Haikou 571199, Hainan, Peoples R China |
| 推荐引用方式 GB/T 7714 | Qiu, Fang,Tang, Ruqi,Zuo, Xianbo,et al. A genome-wide association study identifies six novel risk loci for primary biliary cholangitis[J]. NATURE COMMUNICATIONS,2019,8. |
| APA | Qiu, Fang.,Tang, Ruqi.,Zuo, Xianbo.,Shi, Xingjuan.,Wei, Yiran.,...&Ma, Xiong.(2019).A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.NATURE COMMUNICATIONS,8. |
| MLA | Qiu, Fang,et al."A genome-wide association study identifies six novel risk loci for primary biliary cholangitis".NATURE COMMUNICATIONS 8(2019). |
| 条目包含的文件 | 条目无相关文件。 | |||||
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