What are the roles of the genes IBD1 and NOD2 (CARD15) in the etiology of Crohn disease?

Updated: Jul 26, 2019
  • Author: Leyla J Ghazi, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

When the genetics of Crohn disease were first investigated, a strong association was found with chromosome 16 (IBD1 gene), which led to the identification of 3 single nucleotide polymorphisms (SNPs), 2 missense and 1 frameshift, in the NOD2 gene (now called CARD15), the first gene clearly identified as a susceptibility gene for Crohn disease.

NOD2/CARD15 is a polymorphic gene involved in the innate immune system. Of its more than 60 variations, 3 play a role in 27% of patients with Crohn disease, primarily in those with ileal disease. Subsequent studies suggest that CARD15 genotype is associated not only with the onset of disease but also with its natural history. A study in a German and Norwegian cohort showed that patients with 1 of the 3 identified risk alleles for CARD15 were more likely to have either ileal or right-colon disease. [13, 14]


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