ArticleNature genetics2017
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
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Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 197 papers, 6 of them syntheses that pooled it.
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197citing papers in PubMed, 6 pooled it
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The trial behind it
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Who cites it
197 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Large-scale GWAS meta-analysis of serum antibody levels in healthy individuals reveals distinct genetic architectures.Genes and immunity · 2026Pooled it
- Gastrointestinal traits, common inflammatory disorders, gallstones, and biliary tract cancer: A network Mendelian randomization study.Journal of advanced research · 2026Pooled it
- Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency.Clinical immunology (Orlando, Fla.) · 2024Pooled it
- Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease.Inflammatory bowel diseases · 2023Pooled it
- Systematic review-pancreatic involvement in inflammatory bowel disease.Alimentary pharmacology & therapeutics · 2022Pooled it
- Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.Nature communications · 2021Pooled it
- Polygenic Risk Scores Show Distinct Genetic Architectures of IBD-Associated Comorbidities.Digestive diseases and sciences · 2026Article
- An epithelial GPR35 isoform supports tumor-associated transcriptional and metabolic phenotypes.FEBS letters · 2026Article
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- High-resolution promoter interaction analysis implicates genes involved in activation of type 3 innate lymphoid cells in immune disease risk.Nature genetics · 2026Article
- Primary sclerosing cholangitis displays distinct colonic mucosa topography yet a shared mast cell state with ulcerative colitis.Nature communications · 2026Article
- Genome-wide pleiotropic analysis identifies shared genetic architecture within the cognition-immune nexus.Translational psychiatry · 2026Article
- Distinct phenotype of primary sclerosing cholangitis-associated inflammatory bowel disease.Journal of gastroenterology · 2026Review
- Cholangiocyte biology in primary sclerosing cholangitis and other cholangiopathies: pathogenesis, clinical insights, and experimental tools.Physiological reviews · 2026Review
- A Multi-omics and Machine Learning Framework Identifies Plasma SBDS as a Causal Biomarker and Therapeutic Target in Primary Sclerosing Cholangitis.Journal of clinical and translational hepatology · 2026Article
- Association of FUT2 rs601338 Genotype with Colonic Mucosal Microbiome Composition, Post-Transplant Bacteremia, and All-Cause Mortality After Liver Transplantation for Primary Sclerosing Cholangitis: A Retrospective Cohort Study.Journal of clinical medicine · 2026Article
- Multi-Omics Integrative Analysis Identifies the NK Cell-STAT3 Axis as a Shared Immunogenetic Hub Underlying the Comorbidity of Primary Sclerosing Cholangitis and Ulcerative Colitis.Life (Basel, Switzerland) · 2026Article
- Genetic overlap between autoimmune disorders and anorexia nervosa: insights from a large-scale cross-trait genome-wide analysis.Journal of eating disorders · 2026Article
- Multivariable genome-wide analysis elucidates the shared genetic architecture, immunosenescence features, and gut-origin therapeutic targets of ulcerative colitis-associated multisystem inflammation.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Beyond the Gut: Extra-Enteric Digestive Manifestations of Inflammatory Bowel Disease-A Personalized Medicine Perspective and Comprehensive Review.Journal of personalized medicine · 2026Review
137 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
73 authors.
Sun-Gou JiWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0001-8652-6318
Brian D JuranCenter for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Sören MuchaInstitute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Kiel, Germany.
Trine FolseraasNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Luke JostinsWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Espen MelumNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Natsuhiko KumasakaWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Elizabeth J AtkinsonDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
Erik M SchlichtCenter for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Jimmy Z LiuWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Tejas ShahWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Javier Gutierrez-AchuryWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Kirsten M BobergNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Annika BergquistDepartment of Gastroenterology and Hepatology, Karolinska University Hospital Huddinge, Karolinska Institutet, Stockholm, Sweden.
Severine VermeireDepartment of Clinical and Experimental Medicine, Katholieke Universiteit Leuven, Leuven, Belgium.
Bertus EksteenSnyder Institute for Chronic Diseases, Department of Medicine, University of Calgary, Calgary, Alberta, Canada.
Peter R DuriePhysiology and Experimental Medicine, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Martti FarkkilaHelsinki University and Helsinki University Hospital, Clinic of Gastroenterology, Helsinki, Finland.
Tobias MüllerDepartment of Internal Medicine, Hepatology and Gastroenterology, Charité Universitätsmedizin Berlin, Berlin, Germany.
Christoph Schramm1st Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Martina SterneckDepartment of Hepatobiliary Surgery and Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Tobias J WeismüllerDepartment of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.
Daniel N GotthardtDepartment of Medicine, University Hospital of Heidelberg, Heidelberg, Germany.
David EllinghausInstitute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Kiel, Germany.
Felix BraunDepartment of General, Visceral, Thoracic, Transplantation and Pediatric Surgery, University Medical Centre Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Andreas TeufelDepartment of Medicine I, University Medical Center, Regensburg, Germany.
Mattias LaudesClinic of Internal Medicine I, University Hospital Schleswig-Holstein, Kiel, Germany.
Wolfgang LiebInstitute of Epidemiology and Biobank PopGen, University Hospital Schleswig-Holstein, Kiel, Germany.
Gunnar JacobsInstitute of Epidemiology and Biobank PopGen, University Hospital Schleswig-Holstein, Kiel, Germany.
Ulrich BeuersDepartment of Gastroenterology and Hepatology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Rinse K WeersmaDepartment of Gastroenterology and Hepatology, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Cisca WijmengaDepartment of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Hanns-Ulrich MarschallDepartment of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Piotr MilkiewiczLiver and Internal Medicine Unit, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland.
Albert ParesLiver Unit, Hospital Clínic, IDIBAPS, CIBERehd, University of Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0002-5413-9687
Kimmo KontulaDepartment of Medicine, University of Helsinki, Helsinki, Finland.
Olivier ChazouillèresAP-HP Hôpital Saint Antoine, Department of Hepatology, UPMC University Paris 6, Paris, France.
Pietro InvernizziCenter for Autoimmune Liver Diseases, Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
Elizabeth GoodeAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Kelly SpiessAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Carmel MooreNIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jennifer SambrookINTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Willem H OuwehandWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
David J RobertsNIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
John DaneshWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Annarosa FloreaniDepartment of Surgical, Oncological and Gastroenterological Sciences, University of Padova, Padova, Italy.
Aliya F GulamhuseinCenter for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
John E EatonCenter for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Stefan SchreiberInstitute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Kiel, Germany.
Catalina ColtescuLiver Centre, Toronto Western Hospital, Toronto, Ontario, Canada.
Christopher L BowlusDivision of Gastroenterology and Hepatology, University of California at Davis, Davis, California, USA.
Velimir A LuketicGastroenterology and Hepatology Section, Virginia Commonwealth University, Richmond, Virginia, USA.
Joseph A OdinDepartment of Medicine, Mount Sinai School of Medicine, New York, New York, USA.
Kapil B ChopraDivision of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Kris V KowdleyLiver Care Network and Organ Care Research, Swedish Medical Center, Seattle, Washington, USA.
Naga ChalasaniIndiana University School of Medicine, Indianapolis, Indiana, USA.
Michael P MannsDepartment of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.
Brijesh SrivastavaAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK.
George MellsAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Richard N SandfordAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Graeme AlexanderDepartment of Medicine, Division of Hepatology, University of Cambridge, Cambridge, UK.
Daniel J GaffneyWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Roger W ChapmanDepartment of Translational Gastroenterology, Oxford University Hospitals NHS Trust, Oxford, UK.
Gideon M HirschfieldCentre for Liver Research, NIHR Biomedical Research Unit, University of Birmingham, Birmingham, UK.
Mariza de AndradeDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
UK-PSC Consortium
International IBD Genetics Consortium
International PSC Study Group
Simon M RushbrookAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Andre FrankeInstitute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Kiel, Germany.
Tom H KarlsenNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Konstantinos N LazaridisCenter for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Carl A AndersonWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Funding
HRS Yrs29-34: Y33 SSA CoFundingU01AG009740 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Jessica Faul, KENNETH M LANGA · 1990 to 2026
$555.8MCreating a National Resource for Genetic Research in Behavioral & Health SciencesRC2AG036495 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WEIR, DAVID R. · 2009 to 2010
$7.4MExpanding a National Resource for Genetic Research in Behavioral & Health ScienceRC4AG039029 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WEIR, DAVID R. · 2010 to 2010
$6.0MPSC Resource Of Genetic Risk, Environment and Synergy Studies (PROGRESS)R01DK084960 · NIDDK · MAYO CLINIC ROCHESTER · PI LAZARIDIS, KONSTANTINOS N · 2010 to 2014
$3.0MBritish Heart Foundation RG/08/014/24067British Heart Foundation RG/09/012/28096Department of Health RP-PG-0310-1002Department of Health RP-PG-0310-1004Medical Research Council G0800270Medical Research Council MC_PC_15018Medical Research Council MR/L003120/1NIA NIH HHS RC2 AG036495NIA NIH HHS RC4 AG039029NIA NIH HHS U01 AG009740NIDDK NIH HHS R01 DK084960Wellcome Trust
Abstract
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower expression of UBASH3A. Further analyses based on common variants suggested that the genome-wide genetic correlation (r
Indexed as
Adaptor Proteins, Signal TransducingAllelesCholangitis, SclerosingColitis, UlcerativeGenome-Wide Association StudyHumansInflammatory Bowel DiseasesPolymorphism, Single NucleotideRisk FactorsRNA, MessengerAdaptor Proteins, Signal TransducingRNA, MessengerUBASH3A protein, human
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