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 ORCID:, Sanderson, Jeremy, Jewell, Derek P, Mansfield, John C, Deloukas, Panos, Mathew, Christopher G, Parkes, Miles and Satsangi, Jack and Wellcome Trust Case Control Consortium (2008) Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nature Genetics, 40 (6). pp. 710-2. ISSN 1061-4036

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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
Uncontrolled Keywords: biological markers,carrier proteins,case-control studies,cohort studies,colitis, ulcerative,crohn disease,extracellular matrix proteins,gtp-binding proteins,genetic predisposition to disease,hla-a antigens,homeodomain proteins,humans,interleukin-12 subunit p40,nod2 signaling adaptor protein,polymorphism, single nucleotide,protein-serine-threonine kinases,receptors, interleukin,risk factors
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Depositing User: Pure Connector
Date Deposited: 06 Aug 2014 10:44
Last Modified: 03 Nov 2022 15:37
DOI: 10.1038/ng.145

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