ArticleGastroenterology2021
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.
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Article in Gastroenterology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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26citing papers in PubMed, 1 pooled it
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression.Nature communications · 2023Pooled it
- A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- rs57494551 increases CXCR5 expression and IgMJournal of gastroenterology · 2026Article
- A multifaceted analysis of OTUD5 integrated MAVS in innate immunity of Primary Biliary Cholangitis.PloS one · 2026Article
- Cell-specific epigenome-wide DNA methylation in peripheral CD4(+) lymphocytes from patients with primary biliary cholangitis.Journal of translational autoimmunity · 2025Article
- Regulation of Neuroinflammation by Microglial DUBA-IRAK1-IKKβ Signaling Loop.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Unmet needs in autoimmune liver diseases.Current opinion in immunology · 2025Review
- Primary biliary cholangitis: A historical perspective from xanthomatous lesions to modern molecular biology.World journal of gastrointestinal pathophysiology · 2025Review
- Surveillance for hepatocellular carcinoma in patients with primary biliary cholangitis: For all or just for some?JHEP reports : innovation in hepatology · 2025Article
- OTU deubiquitinases in cancer pathogenesis and precision therapy.American journal of cancer research · 2025Review
- Common pathological mechanisms and therapeutic strategies in primary Sjogren's syndrome and primary biliary cholangitis: from tissue immune microenvironment to targeted therapy.Frontiers in immunology · 2025Review
- Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report.Frontiers in genetics · 2025Article
- Molecular Mechanisms of Fibrosis in Cholestatic Liver Diseases and Regenerative Medicine-Based Therapies.Cells · 2024Review
- Hepatic immune regulation and sex disparities.Nature reviews. Gastroenterology & hepatology · 2024Review
- Are Gender Differences Important for Autoimmune Liver Diseases?Life (Basel, Switzerland) · 2024Review
- Review
- Article
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- Deubiquitinase OTUD5 as a Novel Protector against 4-HNE-Triggered Ferroptosis in Myocardial Ischemia/Reperfusion Injury.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Review
Corrections and comments
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Authors and funding
32 authors at 16 institutions in 6 countries.
Rosanna AsseltaDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; IRCCS Humanitas Research Hospital, Milan, Italy.
Elvezia M ParaboschiDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; IRCCS Humanitas Research Hospital, Milan, Italy.
Alessio GerussiDivision of Gastroenterology and Center for Autoimmune Liver Diseases, Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy; European Reference Network on Hepatological Diseases, San Gerardo Hospital, Monza, Italy.
Heather J CordellPopulation Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, United Kingdom.
George F MellsAcademic Department of Medical Genetics, Cambridge University, Cambridge, United Kingdom.
Richard N SandfordAcademic Department of Medical Genetics, Cambridge University, Cambridge, United Kingdom.
David E JonesFaculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom.
Minoru NakamuraClinical Research Center, National Hospital Organization, Nagasaki Medical Center, Nagasaki, Japan; Department of Hepatology, Nagasaki University Graduate School of Biomedical Sciences, Omura, Nagasaki, Japan.
Kazuko UenoGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Yuki HitomiDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Minae KawashimaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Nao NishidaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Katsushi TokunagaGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Masao NagasakiHuman Biosciences Unit for the Top Global Course Center for the Promotion of Interdisciplinary Education and Research, Kyoto University, Kyoto, Japan; Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Atsushi TanakaDepartment of Medicine, Teikyo University School of Medicine, Tokyo, Japan.
Ruqi TangDivision of Gastroenterology and Hepatology, Key Laboratory of Gastroenterology and Hepatology, Ministry of Health, State Key Laboratory for Oncogenes and Related Genes, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai, China.
Zhiqiang LiAffiliated Hospital of Qingdao University and Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Yongyong ShiAffiliated Hospital of Qingdao University and Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Xiangdong LiuKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing, Jiangsu, China.
Ma XiongDivision of Gastroenterology and Hepatology, Key Laboratory of Gastroenterology and Hepatology, Ministry of Health, State Key Laboratory for Oncogenes and Related Genes, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai, China.
Gideon HirschfieldToronto General Hospital Research Institute, Toronto, Ontario, Canada; Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Katherine A SiminovitchDepartment of Medicine, University of Toronto, Toronto, Ontario, Canada; Mount Sinai Hospital, Lunenfeld Tanenbaum Research Institute and Toronto General Research Institute, Toronto, Canada; Department of Immunology, University of Toronto, Toronto, Ontario, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada.
Canadian-US PBC Consortium
Italian PBC Genetics Study Group
UK-PBC Consortium
Japan PBC-GWAS Consortium
Marco CarboneDivision of Gastroenterology and Center for Autoimmune Liver Diseases, Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy; European Reference Network on Hepatological Diseases, San Gerardo Hospital, Monza, Italy.
Giulia CardamoneDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; IRCCS Humanitas Research Hospital, Milan, Italy.
Stefano DugaDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; IRCCS Humanitas Research Hospital, Milan, Italy.
M Eric GershwinUniversity of California-Davis, Davis, California.
Michael F SeldinUniversity of California-Davis, Davis, California.
Pietro InvernizziDivision of Gastroenterology and Center for Autoimmune Liver Diseases, Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy; European Reference Network on Hepatological Diseases, San Gerardo Hospital, Monza, Italy. Electronic address: pietro.invernizzi@unimib.it.
Newcastle University · GBUniversity of Cambridge · GBHumanitas University · ITAzienda Ospedaliera San Gerardo · ITThe University of Tokyo · JPUniversity of California, Davis · USUniversity of Milano-Bicocca · ITNational Center for Global Health and Medicine · JPNagasaki Medical Center · JPShanghai Jiao Tong University · CNKyoto University · JPMount Sinai Hospital · CAQingdao University · CNSoutheast University · CNTeikyo University · JPUniversity of Toronto · CA
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
$2.4MMechanistically based therapeutic strategies in murine primary biliary cholangitisR01DK123262 · NIDDK · UNIVERSITY OF CALIFORNIA AT DAVIS · PI GERSHWIN, MERRILL E · 2020 to 2023
$1.6MMedical Research Council G0800460Medical Research Council MR/L001489/1Medical Research Council MR/T023848/1NIDDK NIH HHS R01 DK091823NIDDK NIH HHS R01 DK123262
Abstract
BACKGROUND &
aimsGenome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease.
methodsWe performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals).
resultsSingle-marker association analyses found approximately 100 loci displaying P < 5 × 10
conclusionsThis work represents the first comprehensive study, to our knowledge, of the chrX contribution to the genetics of an autoimmune liver disease and shows a novel PBC-related genome-wide significant locus.
Indexed as
AdultAsian PeopleCarrier ProteinsCell LineageChromosomes, Human, XDNA-Binding ProteinsEndopeptidasesFemaleForkhead Transcription FactorsGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLinkage DisequilibriumLiver Cirrhosis, BiliaryMaleCarrier ProteinsDNA-Binding ProteinsEndopeptidasesForkhead Transcription FactorsFOXP3 protein, humanGRIPAP1 protein, humanKCND1 protein, humanMitochondrial Precursor Protein Import Complex ProteinsMonosaccharide Transport ProteinsOTUD5 protein, humanPIM2 protein, humanPQBP1 protein, humanProtein Serine-Threonine KinasesProto-Oncogene ProteinsShal Potassium ChannelsTIMM17B protein, humanUDP-Galactose TranslocatorsMeta-analysisSuperenhancerX-Wide Association Study
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