Which genetic mutations are associated with pediatric Crohn disease?

Updated: Oct 23, 2018
  • Author: Andrew B Grossman, MD; Chief Editor: Carmen Cuffari, MD  more...
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The first and best-described disease-associated mutations for Crohn disease were found on the NOD2/CARD15 gene, which is found on chromosome 16 and regulates intracellular immune response to bacterial products. [10] Stricturing disease necessitating early surgery, ileal involvement, and younger age at diagnosis are phenotypic characteristics that have been associated with recognized CARD15 mutations. Approximately 25% of white children have a CARD15 mutation, compared with only 2% of black and Hispanic children. [11]

Additional genes associated with Crohn disease have been discovered. An association between mutations in the IL23R gene and inflammatory bowel disease (IBD) has been confirmed, suggesting a major protective effect on susceptibility to Crohn disease. A predisposition to Crohn disease, specifically with ileal involvement, has been associated with a single-nucleotide polymorphism (SNP) in the ATG16L1 gene, which is involved in autophagocytosis, an essential component of the innate immune response targeted towards pathogen-derived proteins.

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