SNP rs2201841, in the IL23R gene, is associated with increased risk for Crohn's disease in both Jewish and non-Jewish populations. [PMID 17068223]
Another study found that the "A allele" and "AA genotype" were significantly overrepresented in Graves' disease patients with Graves ophthalmopathy, based on 216 North American patients. The odds ratios reported were 2.04 for the allele (p=1x10-4), and for the so-called "AA" genotype (presumably rs2201841(T;T) when correctly oriented to the dbSNP orientation), 2.4 (p=1x10-4).[PMID 18073300]
- rs2201841(G) 1.13x risk
|Title||Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways|
|Odds Ratio||1.13 None|
[PMID 19034457] Lack of association between interleukin 23 receptor gene polymorphisms and rheumatoid arthritis susceptibility
|Title||Genome-wide association identifies multiple ulcerative colitis susceptibility loci|
|Odds Ratio||1.27 [NR]|
[PMID 22089529] Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis
[PMID 22440928] Perianal Crohn's Disease: Predictive Factors and Genotype-Phenotype Correlations
[PMID 22411504] Contribution of higher risk genes and European admixture to Crohn's disease in African Americans.
[PMID 17606463] Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis.
[PMID 17786191] rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.
[PMID 18338763] Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population.
[PMID 18383363] Association of interleukin-23 receptor variants with ankylosing spondylitis.
[PMID 18470928] IL23R haplotypes provide a large population attributable risk for Crohn's disease.
[PMID 19021011] Association studies of the IL-23R gene in autoimmune thyroid disease in the Japanese population.
[PMID 19103559] [Susceptibility genetic variants in Hungarian morbus Crohn and ulcerative colitis patients].
[PMID 19175939] IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.
[PMID 19262574] Genome-wide association scan yields new insights into the immunopathogenesis of psoriasis.
[PMID 19306001] No association between interleukin 23 receptor gene polymorphisms and systemic lupus erythematosus.
[PMID 19522770] Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjogren syndrome in Hungarian population samples.
[PMID 19757086] Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients.
[PMID 20066736] Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients.
[PMID 20444268] Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.
[PMID 20454450] Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.
[PMID 20606885] Genetics of psoriasis and psoriatic arthritis.
[PMID 20978829] Polymorphisms of the IL23R gene are associated with psoriasis but not with immunoglobulin A nephropathy in a Hungarian population.
[PMID 21253569] Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?
[PMID 21304977] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
[PMID 23054009] Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn's disease and ankylosing spondylitis
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23093364] Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis
[PMID 24415875] Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
[PMID 22706445] Association of IL23R polymorphisms with psoriasis and psoriatic arthritis: a meta-analysis.
[PMID 23053963] Associations between interleukin-23 receptor polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis.