Abstract
The NOD2 gene’s role in Crohn’s disease has been verified in ancestry cohorts of European, but not Asian or African descent. Although homozygous or compound heterozygous carriage of NOD confers a 17-fold increased risk of Crohn’s disease, less than 10% develops CD, due to genetic penetrance. The class II MHC gene association that have been identified have been specifically for colitis (Crohn’s or ulcerative), rather than small bowel Crohn’s disease. Genome-wide association studies (GWAS) have resulted in the rapid identification of multiple previously unknown or unverified IBD-related alleles, with the promise of many future findings. The interleukin-23 receptor gene (IL-23R) has been identified as an IBD susceptibility gene for both Crohn’s and colitis, and may be involved in signaling between luminal bacteria and fungi. ATG16L and IRGM have been identified as important IBD genes involved in cell autography, important in cell-mediated inflammatory pathways. Until recently, there were very few GWAS-identified gene loci specific to ulcerative colitis, raising the possibility that environmental interactions play a more important role that in the predominantly genetic-based Crohn’s disease. However, now there is more overlap between the two major types of IBD.
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Cohen, R.D. (2011). Recent Advances in the Genetics of IBD. In: Cohen, R. (eds) Inflammatory Bowel Disease. Clinical Gastroenterology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60327-433-3_3
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