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

SA Fisher, M Tremelling, CA Anderson, R Gwilliam… - Nature …, 2008 - nature.com
SA Fisher, M Tremelling, CA Anderson, R Gwilliam, S Bumpstead, NJ Prescott, ER Nimmo
Nature genetics, 2008nature.com
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.
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.
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