What the role of the gene IL23R 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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Another early genome-wide association study (GWAS) looked at Jewish and non-Jewish case-control cohorts and identified 2 SNPs in the IL23R gene, which encodes 1 subunit of the IL-23 receptor protein. [15] 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. [16]

However, another study found that the Arg381Gln substitution is associated with childhood onset of IBD in Scotland. [17] Numerous other loci have been identified as conferring susceptibility to Crohn disease. Several large studies found multiple susceptibility loci and confirmed earlier findings.

In a meta-analysis of 3 GWASs, 526 SNPs from 74 distinct genomic loci were found. [18] In addition to loci that have been previously discussed, 21 new loci were found that were associated with an increased risk of developing Crohn disease. Among the new loci were some very interesting implications, including the genes CCR6, IL12B, STAT3, JAK2, LRRK2, CDKAL1, and PTPN22. [18] Most of these genes are involved in signal transduction in certain immune function, as well as genes involved more directly with immune function.


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