Which genetic loci are involved in the etiology of Crohn disease (CD)?

Updated: Apr 10, 2020
  • Author: William A Rowe, MD; Chief Editor: BS Anand, MD  more...
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Another early genome-wide association study looked at Jewish and non-Jewish case-control cohorts and identified 2 single nucleotide polymorphisms in the IL23R gene, which encodes 1 subunit of the interleukin-23 receptor protein. [17] Interestingly, this study also described the promising nature of certain therapies that block the function of IL-23. Further research suggested that one particular polymorphism in the IL23R gene showed the strongest association in a German population. [18] However, another study found that the Arg381Gln substitution is associated with childhood onset of IBD in Scotland. [19] These gene products appear to be involved in regulating adaptive immunity.

Numerous other loci have been identified as conferring susceptibility to Crohn disease, including several large meta-analyses that found multiple novel susceptibility loci and confirmed earlier findings. In one meta-analysis of 3 genome-wide association scans, 526 single nucleotide polymorphisms from 74 distinct genomic loci were found. [20] In sorting out loci that have been previously discussed, there were 21 new loci that were associated with an increased risk of developing Crohn Disease and have functional implications, including the genes CCR6, IL12B, STAT3, JAK2, LRRK2, CDKAL1, and PTPN22. [20] Most of these genes are involved in signal transduction in the immune function.

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