Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series

Abstract

IL-23R polymorphisms are clearly associated with AS, but the primary causal association(s) is(are) still not established. These polymorphisms could contribute either increased or decreased susceptibility to AS; functional studies will be required for their full evaluation. Additionally, observed stronger associations with SNPs rs11209026 and rs11465804 upon exclusion of IBD and/or psoriasis cases may represent an independent association with AS.

IL-23 and IL-17 in ankylosing spondylitis

“…This illustrates the potential central role of the IL-23/IL-17 axis in AS [2], and is concordant with other findings, such as IL-23 receptor polymorphisms in AS, as well as in Crohn's disease or in psoriasis [3], sharing the concept of spondyloarthropathy. Elevated IL-17 levels were found in the serum of AS patients [4], and increased numbers of Th 17 cells in the peripheral blood of patients with seronegative spondylarthritides (and not RA) were reported by Jandus [5], as well as increased frequencies of IL-17 positive CD4?…”

The Genetic Basis of Spondyloarthritis: SPARTAN/IGAS 2009

“…Wordsworth reviewed results from the Wellcome Trust Case-Control Consortium (WTCCC) GWAS, particularly the involvement of ERAP1 (also know as ARTS 1) and IL23R with AS 41 . The Oxford Spondyloarthropathy Research Group extended the WTCCC study of IL23R to 730 further AS cases and combined their results in a metaanalysis, which confirmed the association with AS (rs11209026; OR = 0.61, p < 10 -10 ) 42 . This association is robust to stratification on the presence of IBD and/or psoriasis, indicating that the association with this coding SNP is likely to be the primary association with AS 42 .…”

“…The Oxford Spondyloarthropathy Research Group extended the WTCCC study of IL23R to 730 further AS cases and combined their results in a metaanalysis, which confirmed the association with AS (rs11209026; OR = 0.61, p < 10 -10 ) 42 . This association is robust to stratification on the presence of IBD and/or psoriasis, indicating that the association with this coding SNP is likely to be the primary association with AS 42 . Other genes that are associated with both IBD and AS include CARD9, an important component of the innate immune system, linking infection and NF-kB activation 43 .…”

Association between single nucleotide polymorphisms in prospective genes and susceptibility to ankylosing spondylitis and inflammatory bowel disease in a single centre in Turkey

“…The non-synonymous rs11209026 SNP (R381Q) in the IL-23R gene was found to provide a strong shield against CD. However, results from a study of patients with AS in the United Kingdom revealed that the IL-23R (rs11209032) SNP was most strongly associated with IBD (p<0.001) (30). In a Spanish study, associations with IL23-R SNPs were observed to exert a protective effect against IBD (rs1343151, p<0.0002; rs11209026, p<0.001; and rs10889677, p<0.04).…”