ArticleGut2018
Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.
Open access · bronzeAbstract readMulticenter Study
In one paragraph
Article in Gut, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
4.0field-weighted citation impact, top 5% of its field
What it found
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Who cites it
26 citing papers in PubMed, 57 citations in OpenAlex.
- The instructive scar - the dynamic role of extracellular matrix in biliary pathophysiology.Disease models & mechanisms · 2026Review
- Cholangiocyte biology in primary sclerosing cholangitis and other cholangiopathies: pathogenesis, clinical insights, and experimental tools.Physiological reviews · 2026Review
- 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
- WNT inhibition activates interferon stimulated gene expression by alleviating epigenetic repression of endogenous retroviruses.Scientific reports · 2026Article
- GPR35 prevents osmotic stress induced cell damage.Communications biology · 2025Article
- WNT signaling contributes to the extrahepatic bile duct proliferative response to obstruction in mice.JCI insight · 2024Article
- Fecal deoxycholic acid associates with diet, intestinal microbes, and total bilirubin in primary sclerosing cholangitis.JHEP reports : innovation in hepatology · 2024Article
- ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis.Human genomics · 2023Article
- NOTCH signalling - a core regulator of bile duct disease?Disease models & mechanisms · 2023Review
- Liver transplant in primary sclerosing cholangitis: Current trends and future directions.World journal of hepatology · 2023Review
- Novel histological scoring for predicting disease outcome in primary sclerosing cholangitis.Histopathology · 2022Article
- The intestinal and biliary microbiome in autoimmune liver disease-current evidence and concepts.Seminars in immunopathology · 2022Review
- Altered Gut Microbiota as an Auxiliary Diagnostic Indicator for Patients With Fracture-Related Infection.Frontiers in microbiology · 2022Article
- Epigenetic Signatures Discriminate Patients With Primary Sclerosing Cholangitis and Ulcerative Colitis From Patients With Ulcerative Colitis.Frontiers in immunology · 2022Article
- [Surgical treatment of primary sclerosing cholangitis : Experiences from 30 years in a single center cohort with 173 consecutive patients].Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen · 2021Article
- Monomeric/dimeric forms of Fgf15/FGF19 show differential activity in hepatocyte proliferation and metabolic function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Cholangiocarcinoma 2020: the next horizon in mechanisms and management.Nature reviews. Gastroenterology & hepatology · 2020Review
- Cholangiocarcinoma in Patients with Primary Sclerosing Cholangitis (PSC): a Comprehensive Review.Clinical reviews in allergy & immunology · 2020Review
- Article
- A distinct gut microbiota composition in patients with ankylosing spondylitis is associated with increased levels of fecal calprotectin.Arthritis research & therapy · 2019Article
Corrections and comments
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Authors and funding
75 authors at 20 institutions in 14 countries.
Rudi Alberts *Department of Gastroenterology and Hepatology, University of Groningen and University Medical Centre Groningen, Groningen, The Netherlands.
Elisabeth M G de Vries *Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands.
Elizabeth C GoodeNorwich Medical School, Faculty of Medicine and Health Sciences, University of East Anglia, Norwich, UK.
Xiaojun JiangNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Fotis SampaziotisDepartment of Surgery, Wellcome Trust-Medical Research Council Stem Cell Institute, Anne McLaren Laboratory, University of Cambridge, Cambridge, UK.
Krista RomboutsInstitute for Liver and Digestive Health, University College London, Royal Free Hospital, London, UK.
Katrin BöttcherInstitute for Liver and Digestive Health, University College London, Royal Free Hospital, London, UK.
Trine FolseraasNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Tobias J WeismüllerDepartment of Gastroenterology Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.
Andrew L MasonDivision of Gastroenterology and Hepatology, University of Alberta, Edmonton, Alberta, Canada.
Weiwei WangDivision of Gastroenterology and Hepatology, University of Alberta, Edmonton, Alberta, Canada.
Graeme AlexanderDepartment of Medicine, Division of Hepatology, University of Cambridge, Cambridge, UK.
Domenico AlvaroDepartment of Clinical Medicine, Division of Gastroenterology, Sapienza University of Rome, Rome, Italy.
Annika BergquistCenter for Digestive Diseases, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
Niklas K BjörkströmDepartment of Medicine Huddinge, Center for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Ulrich BeuersDepartment of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands.
Einar BjörnssonDepartment of Internal Medicine, Division of Gastroenterology and Hepatology, Landspitali University Hospital, Reykjavik, Iceland.
Kirsten Muri BobergNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Christopher L BowlusDivision of Gastroenterology and Hepatology, University of California Davis, Davis, California, USA.
Maria C BragazziSapienza University of Rome, Medico-Surgical Sciences and Biotechnologies, Rome, Italy.
Marco CarboneDepartment of Medicine and Surgery, Program for Autoimmune Liver Diseases, International Center for Digestive Health, University of Milan-Bicocca, Milan, Italy.
Olivier ChazouillèresDepartment of Hepatology, AP-HP, Hôpital Saint Antoine, Paris, France.
Angela CheungGeneral Internal Medicine, University Health Network, Toronto General Hospital, Toronto, Canada.
Georgios DalekosDepartment of Medicine and Research Laboratory of Internal Medicine, Medical School, University of Thessaly, Larissa, Greece.
John EatonDivision of Gastroenterology and Hepatology, Mayo Clinic Minnesota, Rochester, Minnesota, USA.
Bertus EksteenDepartment of Medicine, Snyder Institute of Chronic Diseases, University of Calgary, Calgary, Canada.
David EllinghausInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany.
Martti FärkkiläDepartment of Medicine, Division of Gastroenterology, Helsinki University Hospital, Helsinki, Finland.
Eleonora A M FestenDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Centre Groningen, Groningen, The Netherlands.
Annarosa FloreaniDepartment of Surgical Oncological and Gastroenterological Sciences, University of Padova, Padova, Italy.
Irene FranceschetDepartment of Surgery Oncology and Gastroenterology, University of Padova, Padova, Italy.
Daniel Nils GotthardtDepartment of Medicine, University Hospital of Heidelberg, Heidelberg, Germany.
Gideon M HirschfieldCentre for Liver Research, NIHR Biomedical Research Unit, University of Birmingham, Birmingham, UK.
B van HoekDepartment of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands.
Kristian HolmNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Simon HohenesterDepartment of Medicine II, Liver Center Munich, University of Munich, Munich, Germany.
Johannes Roksund HovNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Floris ImhannDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Centre Groningen, Groningen, The Netherlands.
Pietro InvernizziDepartment of Medicine and Surgery, Program for Autoimmune Liver Diseases, International Center for Digestive Health, University of Milan-Bicocca, Milan, Italy.
Brian D JuranDivision of Gastroenterology and Hepatology, Mayo Clinic Minnesota, Rochester, Minnesota, USA.
Henrike LenzenDepartment of Gastroenterology Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.
Wolfgang LiebPopgen Biobank, University Hospital Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
Jimmy Z LiuWellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Cambridge, UK.
Hanns-Ulrich MarschallDepartment of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Academy, Gothenburg, Sweden.
Marco MarzioniDepartment of Gastroenterology, Università Politecnica delle Marche, Ospedali Riuniti University Hospital, Ancona, Italy.
Espen MelumNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Piotr MilkiewiczLiver and Internal Medicine Unit, Medical University of Warsaw, Warsaw, Poland.
Tobias MüllerDepartment of Internal Medicine Hepatology and Gastroenterology, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany.
Albert ParesLiver Unit Hospital Clinic, IDIBAPS, CIBERehd, University of Barcelona, Barcelona, Spain.
Christian RuppDepartment of Internal Medicine IV, University Hospital of Heidelberg, Heidelberg, Germany.
Christian RustDepartment of Medicine I, Krankenhaus Barmherzige Brüder, Munich, Germany.
Richard N SandfordAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Christoph Schramm1st Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Stefan SchreiberInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany.
Erik SchrumpfResearch Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Mark S SilverbergInflammatory Bowel Disease (IBD) Group Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital Toronto, Ontario, Canada.
Brijesh SrivastavaAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Martina SterneckDepartment of Hepatobiliary Surgery and Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Andreas Teufel1st Department of Medicine, University of Mainz, Mainz, Germany.
Ludovic VallierDepartment of Surgery, Wellcome Trust-Medical Research Council Stem Cell Institute, Anne McLaren Laboratory, University of Cambridge, Cambridge, UK.
Joanne VerheijDepartment of Pathology, Academic Medical Center, Amsterdam, The Netherlands.
Arnau Vich VilaDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Centre Groningen, Groningen, The Netherlands.
Boudewijn de VriesDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Centre Groningen, Groningen, The Netherlands.
Kalliopi ZachouDepartment of Internal Medicine, University of Thessaly, Larissa, Greece.
International PSC Study Group, The UK PSC Consortium
Roger W ChapmanDepartment of Hepatology, John Radcliffe University Hospitals NHS Trust, Cambridge, UK.
Michael P MannsDepartment of Gastroenterology Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.
Massimo PinzaniInstitute for Liver and Digestive Health, University College London, Royal Free Hospital, London, UK.
Simon M RushbrookNorwich Medical School, Faculty of Medicine and Health Sciences, University of East Anglia, Norwich, UK.
Konstantinos N LazaridisDivision of Gastroenterology and Hepatology, Mayo Clinic Minnesota, Rochester, Minnesota, USA.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany.
Carl A AndersonWellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Cambridge, UK.
Tom H KarlsenNorwegian PSC Research Center, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Cyriel Y PonsioenDepartment of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands.
Rinse K WeersmaDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Centre Groningen, Groningen, The Netherlands.
Oslo University Hospital · NOUniversity Medical Center Groningen · NLUniversity of Cambridge · GBAcademic Medical Center · NLMayo Clinic · USMedizinische Hochschule Hannover · DEHeidelberg University · DEKarolinska University Hospital · SESapienza University of Rome · ITUniversität Hamburg · DEUniversity College London · GBUniversity of Alberta · CAUniversity of Milano-Bicocca · ITUniversity of Padua · ITUniversity of Thessaly · GRWellcome Sanger Institute · GBAssistance Publique – Hôpitaux de Paris · FRCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas · ESCharité - Universitätsmedizin Berlin · DEHelsinki University Hospital · FI
Funding
PSC Resource Of Genetic Risk, Environment and Synergy Studies (PROGRESS)R01DK084960 · NIDDK · MAYO CLINIC ROCHESTER · PI LAZARIDIS, KONSTANTINOS N · 2010 to 2014
$3.0MMedical Research Council MC_PC_12009Medical Research Council MR/L016761/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/N001540/1NIDDK NIH HHS R01 DK084960
Abstract
objectivePrimary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications.
designWe collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients-obtained using the Illumina immunochip-with their disease subphenotypes. Using logistic regression and Cox proportional hazards models, we identified genetic variants associated with binary and time-to-event PSC subphenotypes.
resultsWe identified genetic variant rs853974 to be associated with liver transplant-free survival (p=6.07×10
conclusionWe present a large international PSC cohort, and report genetic loci associated with PSC disease progression. For liver transplant-free survival, we identified a genome-wide significant signal and demonstrated expression of the candidate gene
Indexed as
AdultCholangitis, SclerosingCohort StudiesDisease ProgressionFemaleHumansKaplan-Meier EstimateLogistic ModelsMaleMiddle AgedPolymorphism, Single NucleotideProportional Hazards ModelsR-SpondinsThrombospondinsRSPO3 protein, humanR-SpondinsThrombospondinsgeneticsliver transplantationPrimary sclerosing cholangitis
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