Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
Sheila A Fisher;
Mark Tremelling;
Carl A Anderson;
Rhian Gwilliam;
Suzannah Bumpstead;
Natalie J Prescott;
Elaine R Nimmo;
Dunecan Massey;
Carlo Berzuini;
Christopher Johnson;
+27 more...
Jeffrey C Barrett;
Fraser R Cummings;
Hazel Drummond;
Charlie W Lees;
Clive M Onnie;
Catherine E Hanson;
Katarzyna Blaszczyk;
Mike Inouye;
Philip Ewels;
Radhi Ravindrarajah;
Andrew Keniry;
Sarah Hunt;
Martyn Carter;
Nick Watkins;
Willem Ouwehand;
Cathryn M Lewis;
Lon Cardon;
Wellcome Trust Case Control Consortium;
Alan Lobo;
Alastair Forbes;
Jeremy Sanderson;
Derek P Jewell;
John C Mansfield;
Panos Deloukas;
Christopher G Mathew;
Miles Parkes;
Jack Satsangi;
(2008)
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
Nat Genet, 40 (6).
pp. 710-712.
ISSN 1061-4036
DOI: 10.1038/ng.145
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.
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