ArticlemedRxiv : the preprint server for health sciences2026
Exome sequencing directly implicates 68 genes in inflammatory bowel disease.
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Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
79 authors.
Ruifei ZhuProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Departme.ORCID 0009-0001-7770-2006
Qian ZhangGenomics of Inflammation and Immunity Group, Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK; UK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-0769-1057
Kai YuanProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Departme.ORCID 0000-0002-8460-6581
Rui ZhangProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Departme.ORCID 0009-0009-8928-6853
Alexandra K TurveyProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Departme.ORCID 0000-0003-1945-7775
Christine R StevensProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Departme.ORCID 0000-0002-2621-2234
Laura FachalGenomics of Inflammation and Immunity Group, Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK; UK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-7256-9752
Tariq AhmadRoyal Devon & Exeter NHS Foundation Trust Royal Devon and Exeter Hospital, UK; UK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.
Klaartje Bel KokQueen Mary University, Innovation Centre, London, E1 2EF, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Charles N BernsteinUniversity of Manitoba, Winnipeg, Manitoba, Canada; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-8041-3574
Bernd BokemeyerDepartment of Internal Medicine, University Medical Center Schleswig-Holstein, Kiel, Germany; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0003-2016-6991
Steven R BrantCrohns Colitis Center of New Jersey, Department of Medicine, Rutgers Robert Wood Johnson Medical School and Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, New Brunswick and Piscataway, N.ORCID 0000-0003-3019-4240
Johanne BrooksLister Hospital, Stevenage SG1 4AB, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Jeffrey ButterworthROYAL SHREWSBURY HOSPITAL, SHREWSBURY, SHROPSHIRE, SY3 8XQ, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Judy H ChoPathology, Molecular & Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; NIDDK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-7959-0466
Katie Clark1Whistion Hospital, Prescot L35 5DR, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Fraser CummingsSouthampton General Hospital, Southampton, SO166YD, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Richard H DuerrUniversity of Pittsburgh, Pittsburgh, PA, USA; NIDDK IBD Genetics Consortium; SPARC IBD Network; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-6586-3905
Sarah EnnisHuman Genetics and Genomic Medicine, University of Southampton, UK; International Inflammatory Bowel Disease Genetics Consortium.
Martti FarkkilaHelsinki University Central Hospital, Helsinki, Finland; International Inflammatory Bowel Disease Genetics Consortium.
William A FaubionMayo Clinic in Arizona, Phoenix, AZ, USA; SHARE Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0003-1291-5745
Stephen FoleyKings Mill Hospital, Sutton in Ashfield, NG174JL, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Denis FranchimontErasme Hospital, ULB, Brussels, Belgium; Belgium IBD Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-8856-3462
Andre FrankeChristian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0003-1530-5811
Laura HancockWythenshawe Hospital, Manchester, M23 9LT, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Ailsa HartSt Marks Hospital, Watford Road, Harrow, Middlesex, UK; NIHR IBD BioResource; UK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.
Patricia HooperLeicester General Hospital, Leicester LE5 4PW, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Peter IrvingDepartment of Gastroenterology, Guy's & St. Thomas' Hospitals NHS Foundation Trust, London SE1 7EH, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Mark JarvisBasildon Hospital, Nethermayne, Basildon, Essex, SS16 5NL, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Emma JohnstonWest Middlesex University Hospital, Isleworth, TW7 6AF, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Elizabeth W KarlsonMass General Brigham Personalized Medicine, Mass General Brigham HealthCare, Boston, MA, USA; Department of Medicines, Brigham and Women's Hospital and Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA; Division of Rheumatology.
Cheryl KempWatford General Hospital, Watford WD18 0HB, UK.
Nick KennedyRoyal Devon & Exeter NHS Foundation Trust Royal Devon and Exeter Hospital, UK; UK IBD Genetics Consortium; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Juozas KupcinskasDepartment of Gastroenterology and Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-8760-7416
Christopher A LambTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; Department of Gastroenterology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK; NIHR IBD BioResource; UK IBD Genet.ORCID 0000-0002-7271-4956
Charlie LeesGreat Western Hospitals NHS Foundation Trust Western General Hospital, Edinburgh, UK; UK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.
James D LewisPerelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Crohns and Colitis Foundation, New York, NY, USA; SPARC IBD Network; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0003-3107-3862
Andy LiWorthing Hospital, Western Sussex Hospitals NHS Foundation Trust, Worthing Bn11 2DH, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Jimmy LimdiFairfield General Hospital, Bury, BL9 7TD, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Britt-Sabina LoescherChristian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-9022-9017
Edouard LouisDepartment of Gastroenterology, Liege University Hospital, CHU Liege, Belgium; University of Liege, ULiege, Liege, Belgium; Belgium IBD Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-1287-7075
Jacob L McCauleyJohn P. Hussman Institute for Human Genomics, Leonard M. Miller School of Medicine, University of Miami, Miami, FL, USA; The Dr. John T. Macdonald Foundation Department of Human Genetics, Leonard M. Miller School of Medicine, University of Miami, Miami, F.ORCID 0000-0002-1805-1733
Dermot P B McGovernF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars Sinai Medical Center, Los Angeles, CA, USA; NIDDK IBD Genetics Consortium; SHARE Consortium; International Inflammatory Bowel Disease Genetics Consortium.
John McLaughlinDepartment of Gastroenterology, Salford Royal NHS Foundation Trust Brooke Building, Salford Royal Hospital, Salford, M6 8HD, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Paul MoayyediMcMaster University, Hamilton, Ontario, Canada; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-3616-9292
Gordon MoranQueen's Medical Centre Campus, Nottingham NG7 2UH, UK; NIHR Nottingham Biomedical Research Centre, Nottingham, UK; Translational Medical Sciences, School of Medicine, Faculty of Medicine and Health Sciences, University of Nottingham, Nottingham, UK; UK IB.
Rodney D NewberryWashington University School of Medicine, St. Louis, MO, USA; SHARE Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-4152-5191
Arabis OglesbyDorset County Hospital, Dorset DT1 2JY, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Aarno PalotieInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Massachusetts Ge.ORCID 0000-0002-2527-5874
Joel PekowSection of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Chicago, Chicago, Illinois, USA; Department of Gastroenterology, University of Chicago Medicine, Chicago, IL, USA; SHARE Consortium; NIDDK IBD Genetics Consortium.ORCID 0000-0002-4790-8994
Kate J PerezCambridge University Hospitals NHS Foundation Trust, Patient Representative, Cambridge, UK.
Richard PollokDept Gastroenterology, St Georges Foundation Trust NHS Hospitals, 2nd Floor Gosvenor Wing, London SW17 0QT, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Natalie PrescottDepartment of Medical and Molecular Genetics, Guys Hospital, London, SE1 9RT; UK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-5901-7371
Tim RaineCambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Arvind RamadasJames Cook University Hospital, Middlesbrough TS4 3BW, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Subramaniam RamakrishnanWarrington & Halton hospitals NHS Foundation Trust, Warrington, WA5 1QG, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Ksenija SabicPathology, Molecular & Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; NIDDK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-9566-0324
Bruce SandsIcahn School of Medicine at Mount Sinai, New York, NY, USA; SHARE Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-5762-5042
Jack SatsangiTranslational Gastroenterology Unit, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DS; NIHR IBD BioResource; UK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.
Aleksejs SazonovsGenomics of Inflammation and Immunity Group, Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK.
Stefan SchreiberChristian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany; International Inflammatory Bowel Disease Genetics Consortium.
Christian SelingerSt. Jamess University Hospital, Leeds LS9 7TF, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Sophy ShedwellQueen Elizabeth Hospital, King's Lynn PE30 4ET, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Mark S SilverbergMount Sinai Hospital, Toronto, Ontario, Canada; NIDDK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-7248-9501
Salil SinghRoyal Bolton Hospital, Bolton, BL4 0JR, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Harry SokolDepartment of Gastroenterology, Sorbonne Universite, INSERM, Centre de Recherche Saint-Antoine, CRSA, AP-HP, Saint-Antoine Hospital, Paris, France.; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0002-2914-1822
Helen SteedNew Cross Hospital of The Royal Wolverhampton NHS Trust, Wolverhampton, WV10 0QP, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Alan SteelThe Royal Liverpool University Hospital, Liverpool L7 8YE, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Holm H UhligTranslational Gastroenterology Unit and Biomedical Research Centre, Nuffield Department of Clinical Medicine, Experimental Medicine Division, University of Oxford, Oxford, UK; Department of Pediatrics, John Radcliffe Hospital, Oxford, UK; UK IBD Genetics.
Ajay VermaKettering General Hospital NHS Foundation Trust, Kettering, NN16 8UZ, UK; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
Séverine VermeireUniversity Hospitals Leuven, Leuven, Belgium; Department of Chronic Diseases and Metabolism, KU Leuven, Leuven, Belgium; Belgium IBD Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-9942-3019
Rinse K WeersmaDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-7928-7371
Ramnik J XavierKurt Isselbacher Professor of Medicine at Harvard Medical School, Cambridge, MA, USA; Center for Computational and Integrative Biology, Massachusetts General Hospital, Boston, MA, USA; Department of Molecular Biology, Massachusetts General Hospital, Bosto.ORCID 0000-0002-5630-5167
Mingrui YuProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Departme.ORCID 0000-0002-2749-0690
Miles ParkesDepartment of Gastroenterology, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK; UK IBD Genetics Consortium; NIHR IBD BioResource; International Inflammatory Bowel Disease Genetics Consortium.
John D RiouxFaculty of Medicine, Universite de Montreal, Montreal, Canada; Research Center Montreal Heart Institute, Montreal, Canada; NIDDK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0001-7560-8326
Mark J DalyInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research,.ORCID 0000-0002-0949-8752
Hailiang HuangAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; NIDDK IBD Genetics Consortium; Internat.ORCID 0000-0003-1461-5762
Carl A AndersonGenomics of Inflammation and Immunity Group, Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK; UK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium.ORCID 0000-0003-1719-7009
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MCenter for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2MUsing polygenic scores to enhance both variant discovery, and understanding of functional consequences of genetic variation in IBD.P01DK046763 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI MCGOVERN, DERMOT PATRICK · 1992 to 2020
$31.1MRole of IL-10 in APC Regulation of Protective vs. Pathogenic T Cell Responses toP01DK094779 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SHEIKH, SHEHZAD Z. · 2013 to 2023
$17.9MMedical Scientist Training ProgramT32GM144273 · NIGMS · HARVARD MEDICAL SCHOOL · PI David Shumway Jones, Jacqueline A. Lees · 2022 to 2026
$14.7MPrecision IBD via genetics and genomics: integrating International and multi-omic datasets, expanding studies in diverse populations, and defining mechanisms of unmet clinical needs in IBDU24DK062429 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ling-shiang Chuang, Ron Do · 2017 to 2026
$13.9MUtilizing the Phenomics of IBD to Enhance Gene DiscoveryU01DK062413 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI Dermot Patrick McGovern · 2002 to 2026
$12.2MYale University Inflammatory Bowel Disease Genetics Research CenterU01DK062422 · NIDDK · YALE UNIVERSITY · PI Ling-shiang Chuang · 2002 to 2026
$10.8MIBD Gene Mapping by Clinical and Population SubsetsU01DK062431 · NIDDK · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Steven R Brant · 2002 to 2026
$10.7MGene discoveries in subjects with Crohn's disease of African descentR01DK087694 · NIDDK · EMORY UNIVERSITY · PI KUGATHASAN, SUBRA · 2011 to 2023
$10.3MUniversite de Montreal IBD Genetics Research CenterU01DK062432 · NIDDK · WHITEHEAD INSTITUTE FOR BIOMEDICAL RES · PI John D. Rioux · 2002 to 2026
$9.6MNIDDK IBD Genetics Consortium Genetic Research CenterU01DK062420 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUERR, RICHARD H · 2002 to 2021
$7.8MNHGRI NIH HHS R01 HG010140NHGRI NIH HHS U01 HG009080NHGRI NIH HHS U54 HG003067NHGRI NIH HHS UM1 HG008895NIDDK NIH HHS K01 DK114379NIDDK NIH HHS K23 DK117054NIDDK NIH HHS P01 DK046763NIDDK NIH HHS P01 DK094779NIDDK NIH HHS R01 DK087694NIDDK NIH HHS R01 DK104844NIDDK NIH HHS R01 DK111843NIDDK NIH HHS R01 DK129364NIDDK NIH HHS U01 DK062413NIDDK NIH HHS U01 DK062420NIDDK NIH HHS U01 DK062422NIDDK NIH HHS U01 DK062423NIDDK NIH HHS U01 DK062431NIDDK NIH HHS U01 DK062432NIDDK NIH HHS U01 DK134201NIDDK NIH HHS U24 DK062429NIGMS NIH HHS T32 GM144273Wellcome Trust
Abstract
Inflammatory bowel disease (IBD) is a chronic immune-mediated disorder of the gastrointestinal tract whose genetic basis is only partly resolved because most risk variants identified by genome-wide association studies (GWAS) lie in non-coding regions, limiting direct gene assignment and biological interpretation
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