Replication of an Association Between IL23R Gene Polymorphism With Inflammatory Bowel Disease

Protective role of R381Q (rs11209026) polymorphism in IL-23R gene in immune-mediated diseases: A comprehensive review

“…The authors analyzed eight genetic variants spanning the IL23R gene and its downstream intergenic region that were significantly associated with IBD in a North American population. Interestingly, several IL23R genetic variants were found to exert an independent and strong protective effect against IBD susceptibility in a Spanish population, confirming a contribution of the IL23R gene to IBD (Oliver et al 2007). The different associations of the IL23R intergenic region polymerphisms in different populations might account for the genetic heterogeneity in LD patterns and ancestral haplotype backgrounds between different populations.…”

“…Although the precise etiology of IBD remains unknown, both animal models and human studies have pointed out a substantial genetic contribution to disease susceptibility. Several chromosomal regions have been in linkage with IBD susceptibility in genome-wide scan analysis and subsequent association studies further identified specific genetic variants associated with IBD (Oliver et al 2007). In 2001 the CARD15 (caspase-activating recruitment domain-15)/NOD2 (nucleotide-binding oligomerization domain 2 encoding cytosolic proteins that enable recognition of peptidoglycans) gene on chromosome 16 was identified as the first susceptible gene for IBD, specifically in CD.…”

“…Therefore, a change in the highly-conserved Arg381 for Gln381 might have functional consequences in the IL-23R transducing pathway, modifying interactions between IL-23R and its associated JAK2 kinase. This might lead to a reduction in the cellular response to IL-23 and could explain the protective effect of this infrequent allele in IBD pathogenesis (Oliver et al 2007). …”

“…Therefore, it might be hypothesized this protective haplotype could affect IL23R splicing, leading to a higher expression of soluble isoforms, inhibiting IL-23 pro-inflammatory activities, thereby exerting a protective effect in IBD (Oliver et al 2007).…”

Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach

“…1,2 To date, different genetic studies have shown several genes playing a relevant role in these diseases, including NOD2/CARD15, 3 DGL5, 4 SLC22A4 and SLC22A5, 5,6 TNFSF15, 7,8 NOD1/CARD4 7 and IL23R. 9,10 NOD2/CARD15 is likely to be the major genetic factor contributing to CD. This gene encodes a protein directly involved in the innate immune response to microbial antigens.…”