Brief Communication abstract
Nature Genetics 40, 710 - 712 (2008)
Published online: 27 April 2008 | doi:10.1038/ng.145
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease
Sheila A Fisher1,13, Mark Tremelling2,13, Carl A Anderson3, Rhian Gwilliam4, Suzannah Bumpstead4, Natalie J Prescott1, Elaine R Nimmo5, Dunecan Massey2, Carlo Berzuini2, Christopher Johnson2, Jeffrey C Barrett3, Fraser R Cummings6, Hazel Drummond5, Charlie W Lees5, Clive M Onnie1, Catherine E Hanson7, Katarzyna Blaszczyk1, Mike Inouye4, Philip Ewels4, Radhi Ravindrarajah4, Andrew Keniry4, Sarah Hunt4, Martyn Carter8, Nick Watkins9, Willem Ouwehand9, Cathryn M Lewis1, Lon Cardon3, the Wellcome Trust Case Control Consortium12, Alan Lobo8, Alastair Forbes10, Jeremy Sanderson11, Derek P Jewell6, John C Mansfield7, Panos Deloukas4,14, Christopher G Mathew1,14, Miles Parkes2,14 & Jack Satsangi5,14
We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.
- Department of Medical and Molecular Genetics, King's College London School of Medicine, 8th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK.
- Inflammatory Bowel Disease Research Group, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 2QQ, UK.
- Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
- The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
- Gastrointestinal Unit, Division of Medical Sciences, School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
- Gastroenterology Unit, Radcliffe Infirmary, University of Oxford, Oxford OX2 6HE, UK.
- Department of Gastroenterology and Hepatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK.
- Division of Molecular and Genetic Medicine, University of Sheffield Medical School, Royal Hallamshire Hospital, Sheffield S10 2JF, UK.
- Department of Haematology, University of Cambridge, National Blood Service Centre, Long Road, Cambridge CB2 2PT, UK.
- Institute for Digestive Diseases, University College London Hospitals Trust, London NW1 2BU, UK.
- Department of Gastroenterology, Guy's and St Thomas' NHS Foundation Trust, London SE1 7EH, UK.
- A full list of authors is provided in the Supplementary Note online.
- These authors contributed equally to this work.
- These authors contributed equally to this work.
Correspondence to: Jack Satsangi5,14 e-mail: j.satsangi@ed.ac.uk
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