Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Fisher, Sheila A, Tremelling, Mark, Anderson, Carl A, Gwilliam, Rhian, Bumpstead, Suzannah, Prescott, Natalie J, Nimmo, Elaine R, Massey, Dunecan, Berzuini, Carlo, Johnson, Christopher, Barrett, Jeffrey C, Cummings, Fraser R, Drummond, Hazel, Lees, Charlie W, Onnie, Clive M, Hanson, Catherine E, Blaszczyk, Katarzyna, Inouye, Mike, Ewels, Philip, Ravindrarajah, Radhi, Keniry, Andrew, Hunt, Sarah, Carter, Martyn, Watkins, Nick, Ouwehand, Willem, Lewis, Cathryn M, Cardon, Lon, Lobo, Alan, Forbes, Alastair, Sanderson, Jeremy, Jewell, Derek P, Mansfield, John C, Deloukas, Panos, Mathew, Christopher G, Parkes, Miles, Satsangi, Jack, Fraser, Christine, Green, Elaine, Grozeva, Detelina, Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Nikolov, Ivan, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2008. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nature Genetics 40 (6) , pp. 710-712. 10.1038/ng.145

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Additional Information:	Christine Fraser, Elaine Green, Detelina Grozeva, Marian Hamshere, Peter Holmans, Ian Jones, George Kirov, Valentina Moskvina, Ivan Nikolov, Michael O'Donovan, Michael Owen and Nick Craddock are collaborators on this article.
Publisher:	Nature Publishing Group
ISSN:	1061-4036
Last Modified:	17 Nov 2022 12:38
URI:	https://orca.cardiff.ac.uk/id/eprint/82217

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