Inflammatory Bowel Disease, Genetics of


Genetic studies of the chronic inflammatory bowel diseases, Crohn disease (CD) and ulcerative colitis (UC), represent a paradigm for complex disease genetics having seen several notable breakthroughs. Indeed, the discovery of NOD2/CARD15 as a CD susceptibility gene in 2001 was the first in a complex genetic disorder. In this review, we detail the genetic epidemiology in inflammatory bowel disease, genome‐wide linkage and association studies, and candidate genes highlighting the insights they have provided into disease pathogenesis and therapeutics.

Keywords: inflammatory bowel disease; Crohn disease; ulcerative colitis; CARD15; IL‐23R; ATG16L1

Figure 1.

Model of pathogenesis of inflammatory bowel disease. UC, ulcerative colitis; IBD, inflammatory bowel disease; CD, Crohn disease. UC and CD can be thought of as overlapping syndromes sharing some phenotypes, and additionally sharing some genetic and environmental susceptibility and modifying stimuli. However, some phenotypic features and environmental/genetic factors are specific to one or other disorder.

Figure 2.

Map of susceptibility loci.



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Lees, Charles W, Ho, Gwo‐Tzer, and Satsangi, Jack(Sep 2007) Inflammatory Bowel Disease, Genetics of. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020220]