Nature Communications (Feb 2020)
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
- Eva Gonçalves Serra,
- Tobias Schwerd,
- Loukas Moutsianas,
- Athena Cavounidis,
- Laura Fachal,
- Sumeet Pandey,
- Jochen Kammermeier,
- Nicholas M. Croft,
- Carsten Posovszky,
- Astor Rodrigues,
- Richard K. Russell,
- Farah Barakat,
- Marcus K. H. Auth,
- Robert Heuschkel,
- Matthias Zilbauer,
- Krzysztof Fyderek,
- Christian Braegger,
- Simon P. Travis,
- Jack Satsangi,
- Miles Parkes,
- Nikhil Thapar,
- Helen Ferry,
- Julie C. Matte,
- Kimberly C. Gilmour,
- Andrzej Wedrychowicz,
- Peter Sullivan,
- Carmel Moore,
- Jennifer Sambrook,
- Willem Ouwehand,
- David Roberts,
- John Danesh,
- Toni A. Baeumler,
- Tudor A. Fulga,
- Mohammad Karaminejadranjbar,
- Ahmed Ahmed,
- Rachel Wilson,
- Jeffrey C. Barrett,
- Abdul Elkadri,
- Anne M. Griffiths,
- COLORS in IBD group investigators,
- Oxford IBD cohort study investigators,
- INTERVAL Study,
- Swiss IBD cohort investigators,
- UK IBD Genetics Consortium,
- NIDDK IBD Genetics Consortium,
- Scott B. Snapper,
- Neil Shah,
- Aleixo M. Muise,
- David C. Wilson,
- Holm H. Uhlig,
- Carl A. Anderson
Affiliations
- Eva Gonçalves Serra
- Wellcome Sanger Institute, Wellcome Genome Campus
- Tobias Schwerd
- Translational Gastroenterology Unit, University of Oxford
- Loukas Moutsianas
- Wellcome Sanger Institute, Wellcome Genome Campus
- Athena Cavounidis
- Translational Gastroenterology Unit, University of Oxford
- Laura Fachal
- Wellcome Sanger Institute, Wellcome Genome Campus
- Sumeet Pandey
- Translational Gastroenterology Unit, University of Oxford
- Jochen Kammermeier
- Great Ormond Street Hospital
- Nicholas M. Croft
- Blizard Institute, Barts and the London School of Medicine, Queen Mary University of London
- Carsten Posovszky
- Universitätsklinikum
- Astor Rodrigues
- Department of Paediatrics, University of Oxford
- Richard K. Russell
- Royal Hospital for Children
- Farah Barakat
- Blizard Institute, Barts and the London School of Medicine, Queen Mary University of London
- Marcus K. H. Auth
- Alder Hey Children’s Hospital
- Robert Heuschkel
- Addenbrooke’s Hospital
- Matthias Zilbauer
- Addenbrooke’s Hospital
- Krzysztof Fyderek
- Department of Paediatrics, Gastroenterology and Nutrition, Jagiellonian University Medical College
- Christian Braegger
- Division of Gastroenterology and Nutrition and Children’s Research Center, University Children’s Hospital Zurich
- Simon P. Travis
- Translational Gastroenterology Unit, University of Oxford
- Jack Satsangi
- Translational Gastroenterology Unit, University of Oxford
- Miles Parkes
- IBD Research Unit, Department of Gastroenterology, Addenbrooke’s Hospital
- Nikhil Thapar
- Great Ormond Street Hospital
- Helen Ferry
- Translational Gastroenterology Unit, University of Oxford
- Julie C. Matte
- Wellcome Sanger Institute, Wellcome Genome Campus
- Kimberly C. Gilmour
- Great Ormond Street Hospital
- Andrzej Wedrychowicz
- Department of Paediatrics, Gastroenterology and Nutrition, Jagiellonian University Medical College
- Peter Sullivan
- Department of Paediatrics, University of Oxford
- Carmel Moore
- NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge
- Jennifer Sambrook
- INTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge
- Willem Ouwehand
- Wellcome Sanger Institute, Wellcome Genome Campus
- David Roberts
- NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge
- John Danesh
- Wellcome Sanger Institute, Wellcome Genome Campus
- Toni A. Baeumler
- Weatherall Institute of Molecular Medicine and the Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital
- Tudor A. Fulga
- Weatherall Institute of Molecular Medicine and the Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital
- Mohammad Karaminejadranjbar
- Weatherall Institute of Molecular Medicine and the Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital
- Ahmed Ahmed
- Weatherall Institute of Molecular Medicine and the Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital
- Rachel Wilson
- Translational Gastroenterology Unit, University of Oxford
- Jeffrey C. Barrett
- Wellcome Sanger Institute, Wellcome Genome Campus
- Abdul Elkadri
- Department of Biochemistry and Pediatrics, Faculty of Medicine, University of Toronto
- Anne M. Griffiths
- Department of Biochemistry and Pediatrics, Faculty of Medicine, University of Toronto
- COLORS in IBD group investigators
- Oxford IBD cohort study investigators
- INTERVAL Study
- Swiss IBD cohort investigators
- UK IBD Genetics Consortium
- NIDDK IBD Genetics Consortium
- Scott B. Snapper
- Division of Gastroenterology, Hepatology and Nutrition, Boston Children’s Hospital
- Neil Shah
- Great Ormond Street Hospital
- Aleixo M. Muise
- Department of Biochemistry and Pediatrics, Faculty of Medicine, University of Toronto
- David C. Wilson
- Child Life and Health, University of Edinburgh
- Holm H. Uhlig
- Translational Gastroenterology Unit, University of Oxford
- Carl A. Anderson
- Wellcome Sanger Institute, Wellcome Genome Campus
- DOI
- https://doi.org/10.1038/s41467-019-14275-y
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 15
Abstract
Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mosaic VEO-IBD patient.
