ArticleNature communications2017
A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
Open access · goldAbstract readValidation Study
In one paragraph
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 8 of them syntheses that pooled it.
0numbers the graph read from it
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66citing papers in PubMed, 8 pooled it
7.7field-weighted citation impact, top 2% of its field
What it found
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The trial behind it
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Who cites it
66 citing papers in PubMed, 8 syntheses or guidelines pooled it, 149 citations in OpenAlex.
- The Genomics/Genetics of Primary Biliary Cholangitis: The Case for a Functional SNP rs10893900 in ETS1/FLI1 and Review of the Literature.Clinical reviews in allergy & immunology · 2025Pooled it
- Cross-Phenotype Genome-Wide Association Study on the Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis.Arthritis & rheumatology (Hoboken, N.J.) · 2025Pooled it
- Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci.Frontiers in immunology · 2025Pooled it
- Identification of risk loci for postpartum depression in a genome-wide association study.Psychiatry and clinical neurosciences · 2024Pooled it
- A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression.Nature communications · 2023Pooled it
- An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.Journal of hepatology · 2021Pooled it
- Replication study and meta-analysis indicate a suggestive association of RUNX3 locus with primary biliary cholangitis.Immunogenetics · 2020Pooled it
- Association between STAT4 polymorphisms and risk of primary biliary cholangitis: a meta-analysis.Genes & genomics · 2018Pooled it
- Current Treatment of Primary Biliary Cholangitis and Primary Sclerosing Cholangitis: A Comprehensive Review.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2026Review
- A segregating PTK2B variant in a primary biliary cholangitis (PBC) family induces PBC-like autoimmune features in knock-in mice.Cell & bioscience · 2026Article
- Multi-omics tests identify novel shared genetic mechanisms of primary biliary cholestasis and sarcopenia.Scientific reports · 2025Article
- The Treatment of Primary Biliary Cholangitis: Time for Personalized Medicine.Clinical reviews in allergy & immunology · 2025Review
- Prevalence and clinical significance of autoantibodies to sulphite oxidase and glycogen phosphorylase in Chinese primary biliary cholangitis patients.Molecular biology reports · 2025Article
- Article
- Causal effects of plasma metabolites on autoimmune hepatitis (AIH): a bidirectional two-sample mendelian randomization study.Scientific reports · 2024Article
- Cross-Phenotype GWAS Supports Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis.medRxiv : the preprint server for health sciences · 2024Article
- Autoantibodes to GP210 are a metric for UDCA responses in primary biliary cholangitis.Journal of translational autoimmunity · 2024Article
- Association of CCR6 functional polymorphisms with Primary Biliary Cholangitis.Journal of translational autoimmunity · 2024Article
- ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.Hepatology international · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
90 authors at 20 institutions in 2 countries.
Fang QiuKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Ruqi TangDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Xianbo ZuoDepartment of Dermatology at No. 1 Hospital, Institute of Dermatology, Anhui Medical University, Hefei, Anhui 230022, China.
Xingjuan ShiKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Yiran WeiDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Xiaodong ZhengDepartment of Dermatology at No. 1 Hospital, Institute of Dermatology, Anhui Medical University, Hefei, Anhui 230022, China.
Yaping DaiDepartment of Laboratory Medicine, The Fifth People's Hospital of Wuxi, Wuxi, Jiangsu 214005, China.
Yuhua GongDepartment of Laboratory Medicine, The Third People's Hospital of Zhenjiang, Zhenjiang, Jiangsu 212005, China.
Lan WangDepartment of Laboratory Medicine, The 81th Hospital of PLA, Nanjing, Jiangsu 210002, China.
Ping XuDepartment of Laboratory Medicine, The Fifth People's Hospital of Suzhou, Soochow University, Suzhou, Jiangsu 215007, China.
Xiang ZhuDepartment of Laboratory Medicine, The Fifth People's Hospital of Suzhou, Soochow University, Suzhou, Jiangsu 215007, China.
Jian WuDepartment of Rheumatology, Department of Gastroenterology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
Chongxu HanDepartment of Laboratory Medicine, Subei People's Hospital, Clinical Medical College, Yangzhou University, Yangzhou, Jiangsu 225001, China.
Yueqiu GaoDepartment of Hepatology, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200021, China.
Kui ZhangDepartment of Laboratory Medicine, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu 210008, China.
Yuzhang JiangDepartment of Laboratory Medicine, Huai'an First People's Hospital, Nanjing Medical University, Huai'an, Jiangsu 223300, China.
Jianbo ZhouDepartment of Laboratory Medicine, Jiangyin People's Hospital, Southeast University, Jiangyin, Jiangsu 214400, China.
Youlin ShaoDepartment of Laboratory Medicine, The Third People's Hospital of Changzhou, Changzhou, Jiangsu 213000, China.
Zhigang HuDepartment of Laboratory Medicine, Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi, Jiangsu 214023, China.
Ye TianDepartment of Radiology, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, China.
Haiyan ZhangDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Na DaiDepartment of Gastroenterology, Jiangsu University affiliated Kunshan Hospital, Kunshan, Jiangsu 215300, China.
Lei LiuDepartment of Gastroenterology, Yixing People's Hospital, Yixing, Jiangsu 214200, China.
Xudong WuDepartment of Gastroenterology, Yancheng First People's Hospital, Yancheng, Jiangsu 224005, China.
Weifeng ZhaoDepartment of Rheumatology, Department of Gastroenterology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
Xiaomin ZhangDepartment of Laboratory Medicine, The University Hospital, Southeast University, Nanjing, Jiangsu 210096, China.
Zhidong ZangDepartment of Hepatology, The Second Hospital of Nanjing, Southeast University, Nanjing, Jiangsu 210003, China.
Jinshan NieDepartment of Gastroenterology, Taicang First People's Hospital, Soochow University, Taicang, Jiangsu 215400, China.
Weihao SunDepartment of Gastroenterology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
Yi ZhaoDepartment of Gastroenterology, Eastern Hepatobiliary Surgery Hospital, Shanghai 201805, China.
Yuan MaoDepartment of Immunology, Nanjing Kingmed Clinical Laboratory Co. Ltd. Nanjing, Jiangsu 210042, China.
Po JiangDepartment of Hepatology, The Second People's Hospital of Jingjiang, Jingjiang, Jiangsu 214500, China.
Hualiang JiDepartment of Gastroenterology, Hai'an People's Hospital, Nantong University Medical School, Hai'an, Jiangsu 226600, China.
Qing DongDepartment of Laboratory Medicine, Suzhou Hospital of Traditional Chinese Medicine, Suzhou, Jiangsu 215009, China.
Junming LiDepartment of Laboratory Medicine, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330006, China.
Zhenzhong LiDepartment of Paediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, China.
Xinli BaiDepartment of Laboratory Medicine, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, Jiangsu 210009, China.
Li LiDepartment of Gastroenterology, Taizhou People's Hospital, Taizhou, Jiangsu 225300, China.
Maosong LinDepartment of Hepatology, Traditional Chinese Medicine Hospital of Kunshan, Kunshan 215300, China.
Ming DongDepartment of Genomics and Epigenomics, Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China.
Jinxin LiDepartment of Gerontology, Beijing Hospital, Beijing 100730, China.
Ping ZhuDepartment of Nutrition and Health, School of Public Health, Fudan University, Shanghai 200032, China.
Chan WangDivision of Rheumatology, Allergy, and Clinical Immunology, Rowe Program in Genetics, University of California-Davis, Davis, California 95616, USA.
Yanqiu ZhangDepartment of Immunology, School of Life Sciences, University of Science and Technology of China, Hefei 230027, Anhui, China.
Peng JiangDepartment of Stomatology, The First Affiliated Hospital, Hainan Medical University, Haikou, Hainan 571199, China.
Yujue WangKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Rohil JawedKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Jing XuKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Yu ZhangKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Qixia WangDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Yue YangDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Fan YangDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Min LianDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Xiang JiangDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Xiao XiaoDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Yanmei LiDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Jingyuan FangDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Dekai QiuDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Zhen ZhuDepartment of Laboratory Medicine, The Third People's Hospital of Changzhou, Changzhou, Jiangsu 213000, China.
Hong QiuDepartment of Laboratory Medicine, The 81th Hospital of PLA, Nanjing, Jiangsu 210002, China.
Jianqiong ZhangKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Wenyan TianDepartment of Rheumatology, Department of Gastroenterology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
Sufang ChenDepartment of Laboratory Medicine, The Fifth People's Hospital of Suzhou, Soochow University, Suzhou, Jiangsu 215007, China.
Ling JiangDepartment of Rheumatology, Department of Gastroenterology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
Bing JiDepartment of Laboratory Medicine, The 81th Hospital of PLA, Nanjing, Jiangsu 210002, China.
Ping LiDepartment of Laboratory Medicine, The 81th Hospital of PLA, Nanjing, Jiangsu 210002, China.
Guochang ChenDepartment of Laboratory Medicine, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu 210008, China.
Tianxue WuDepartment of Laboratory Medicine, Subei People's Hospital, Clinical Medical College, Yangzhou University, Yangzhou, Jiangsu 225001, China.
Yan SunDepartment of Laboratory Medicine, Subei People's Hospital, Clinical Medical College, Yangzhou University, Yangzhou, Jiangsu 225001, China.
Jianjiang YuDepartment of Laboratory Medicine, Jiangyin People's Hospital, Southeast University, Jiangyin, Jiangsu 214400, China.
Huijun TangDepartment of Laboratory Medicine, Jiangyin People's Hospital, Southeast University, Jiangyin, Jiangsu 214400, China.
Michun HeDepartment of Rheumatology, Department of Gastroenterology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
Min XiaDepartment of Laboratory Medicine, Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi, Jiangsu 214023, China.
Hao PeiDepartment of Laboratory Medicine, The Fifth People's Hospital of Wuxi, Wuxi, Jiangsu 214005, China.
Lihua HuangDepartment of Laboratory Medicine, The Fifth People's Hospital of Wuxi, Wuxi, Jiangsu 214005, China.
Zhuye QingDepartment of Immunology, Nanjing Kingmed Clinical Laboratory Co. Ltd. Nanjing, Jiangsu 210042, China.
Jianfang WuDepartment of Hepatology, Traditional Chinese Medicine Hospital of Kunshan, Kunshan 215300, China.
Qinghai HuangKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Junhai HanKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Wei XieKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.ORCID 0000-0002-9179-4787
Zhongsheng SunDepartment of Genomics and Epigenomics, Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China.
Jian GuoDepartment of Gerontology, Beijing Hospital, Beijing 100730, China.
Gengsheng HeDepartment of Nutrition and Health, School of Public Health, Fudan University, Shanghai 200032, China.
M Eric GershwinDivision of Rheumatology, Allergy, and Clinical Immunology, Rowe Program in Genetics, University of California-Davis, Davis, California 95616, USA.
Zhexiong LianDepartment of Immunology, School of Life Sciences, University of Science and Technology of China, Hefei 230027, Anhui, China.
Xiang LiuDepartment of Stomatology, The First Affiliated Hospital, Hainan Medical University, Haikou, Hainan 571199, China.
Michael F SeldinDivision of Rheumatology, Allergy, and Clinical Immunology, Rowe Program in Genetics, University of California-Davis, Davis, California 95616, USA.
Xiangdong LiuKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu 210096, China.
Weichang ChenDepartment of Rheumatology, Department of Gastroenterology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, China.
Xiong MaDepartment of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
Shanghai Jiao Tong University · CNSoochow University · CNSoutheast University · CN81th Hospital of PLA · CNJiangyin People's Hospital · CNNantong University · CNUniversity of California, Davis · USUniversity of Science and Technology of China · CNYangzhou University · CNAnhui Medical University · CNChangzhou Third People's Hospital · CNChinese Academy of Sciences · CNFudan University · CNJiangsu University · CNKingmed Diagnostics · CNNanchang University · CNNanjing Drum Tower Hospital · CNShanghai University of Traditional Chinese Medicine · CNWuxi People's Hospital · CNXian Yang Central Hospital · CN
Funding
IDENTIFICATION OF COMMON AND UNCOMMON GENE VARIANTS IN PBCR01DK091823 · NIDDK · UNIVERSITY OF CALIFORNIA AT DAVIS · PI GERSHWIN, MERRILL E, KINGSMORE, STEPHEN FRANCIS · 2011 to 2014
$2.4MNIDDK NIH HHS R01 DK091823
Abstract
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-κB) 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.
Indexed as
AdolescentAdultAgedAged, 80 and overAsian PeopleAutoimmune DiseasesCase-Control StudiesChildChild, PreschoolCholangitisGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMiddle AgedRibosomal Protein L3Young AdultRibosomal Protein L3
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