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A relatively rare allele at SNP rs11209026, in the IL23R gene, appears to provide a fairly strong protective effect against the development of Crohn's disease in both Jewish and non-Jewish populations. [PMID 17068223]
Note that in this study the (A;A) and (A;G) genotypes were combined for statistical reasons (there were too few (A;A) individuals to study by themselves), so the risk is shown as equal for both.
[PMID 18047540] associated With Inflammatory Bowel Diseases but Not With Celiac Disease rs11209026 had a protective effect for IBD in the case-control analysis (odds ratio [OR] 0.19, 95% confidence interval [CI] 0.10-0.37, P= 6.6E-09). Both CD (OR 0.14, CI 0.06-0.37, P= 3.9E-07) and UC (OR 0.33, CI 0.15-0.73, P= 1.4E-03) were associated with IL23R. rs2241880 was associated with CD susceptibility (OR 1.36, CI 1.12-1.66, P= 0.0017). The population-attributable risk of carrying allele G is 0.24 and is 0.19 for homozygosity for allele G in CD.
With reference to ankylosing spondylitis, the rs11209026(A) allele also has a protective effect. The odds ratio for carriers is 0.63 (p=2.8x10e-5) based on a large study of over 1,000 Caucasian patients.[PMID 17952073, PMID 18037607]
A genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry, concluded that this SNP and several others were associated with altered risk for the disease.[PMID 19122664]
|Condition||Inflammatory bowel disease|
[PMID 19174780] Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort
|Trait||Inflammatory bowel disease|
|Title||Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease|
|Odds Ratio||2.56 [1.92-3.45]|
|Title||Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4|
|Odds Ratio||2.92 [NR]|
[PMID 19590455] Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population
[PMID 19877036] Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population
|Title||Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region|
|Odds Ratio||NR NR|
|Title||Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci|
|Odds Ratio||1.89 [1.56-2.27]|
[PMID 20157760] Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: a meta-analysis
[PMID 19705136] Genetic evidence for involvement of the IL23 pathway in Thai psoriatics
[PMID 20380008] NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease
[PMID 20537165] The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease
[PMID 20485703] Replication and meta-analysis of 13,000 cases defines the risk for interleukin-23 receptor and autophagy-related 16-like 1 variants in Crohn's disease
[PMID 20650992] Association of IBD Risk Loci with Sarcoidosis and its Acute and Chronic Subphenotypes
[PMID 21206965] IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes
|Title||Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci|
|Odds Ratio||2.6600 [2.36-3.00]|
|Title||A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1|
|Odds Ratio||1.4900 [1.27-1.74]|
|Title||Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47|
|Odds Ratio||1.7400 [1.57-1.92]|
|Title||Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.|
|Odds Ratio||None None|
[PMID 22089529] Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis
[PMID 22130325] IL-23R rs11209026 polymorphism modulates IL-17A expression in patients with rheumatoid arthritis
[PMID 22440928] Perianal Crohn's Disease: Predictive Factors and Genotype-Phenotype Correlations
[PMID 21896776] Role of Interleukin-23 (IL-23) Receptor Signaling for IL-17 Responses in Human Lyme Disease.
[PMID 22695161] IL23R Arg381Gln functional polymorphism associated with active pulmonary tuberculosis severity
|Title||A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.|
|Odds Ratio||2.2000 None|
|Title||1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.|
|Odds Ratio||3.1800 None|
|Disease||Inflammatory bowel disease 17 Psoriasis|
|CLNDBN||Inflammatory bowel disease 17, protection against Psoriasis, protection against|
|CLNSRC||ClinVar OMIM Allelic Variant|
[PMID 17236132] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
[PMID 17508420] Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype.
[PMID 17618837] Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.
[PMID 17678723] Investigation of the IL23R gene in a Spanish rheumatoid arthritis cohort.
[PMID 17678845] Replication of an association between IL23R gene polymorphism with inflammatory bowel disease.
[PMID 17684544] Systematic association mapping identifies NELL1 as a novel IBD disease gene.
[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 17877509] Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis.
[PMID 17894849] IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease.
[PMID 17901940] Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction.
[PMID 17940599] Assembly of inflammation-related genes for pathway-focused genetic analysis.
[PMID 18045485] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.
[PMID 18073300] Interleukin (IL)-23 receptor is a major susceptibility gene for Graves' ophthalmopathy: the IL-23/T-helper 17 axis extends to thyroid autoimmunity.
[PMID 18199597] The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis.
[PMID 18200510] CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18368064] IL23R: a susceptibility locus for celiac disease and multiple sclerosis?
[PMID 18383363] Association of interleukin-23 receptor variants with ankylosing spondylitis.
[PMID 18383521] IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction.
[PMID 18438406] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
[PMID 18470928] IL23R haplotypes provide a large population attributable risk for Crohn's disease.
[PMID 18499543] ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients.
[PMID 18609743] Genetics of psoriasis and psoriatic arthritis: update and future direction.
[PMID 18647855] Evidence for association of an interleukin 23 receptor variant independent of the R381Q variant with rheumatoid arthritis.
[PMID 18715515] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
[PMID 18800148] Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis.
[PMID 19021011] Association studies of the IL-23R gene in autoimmune thyroid disease in the Japanese population.
[PMID 19035472] Investigation of association of the IL12B and IL23R genes with psoriatic arthritis.
[PMID 19040306] Association of interleukin 23 receptor variants with psoriatic arthritis.
[PMID 19103525] IL-23R Arg381Gln polymorphism in Chilean patients with inflammatory bowel disease.
[PMID 19161620] An open access database of genome-wide association results.
[PMID 19165485] Interleukin-23 receptor (IL-23R) gene polymorphisms in acquired aplastic anemia.
[PMID 19175939] IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.
[PMID 19182814] New insights into the pathogenesis and genetics of psoriatic arthritis.
[PMID 19189980] Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series.
[PMID 19294505] Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women.
[PMID 19468064] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.
[PMID 19522770] Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjogren syndrome in Hungarian population samples.
[PMID 19918037] Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.
[PMID 20082483] NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.
[PMID 20173782] Prognostic significance of genetic variants in the IL-23/Th17 pathway for the outcome of T cell-depleted allogeneic stem cell transplantation.
[PMID 20192940] Association of the interleukin-23 receptor gene variant rs11209026 with Crohn's disease in German children.
[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 21253733] Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.
[PMID 21281511] Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis.
[PMID 21304977] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23093722] Exploring ankylosing spondylitis-associated ERAP1, IL23R and IL12B gene polymorphisms in subphenotypes of psoriatic arthritis
|Trait||Inflammatory bowel disease|
|Title||Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.|
|Odds Ratio||2.01 [1.885-2.15]|
|Title||A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.|
|Odds Ratio||2.84 [NR]|
[PMID 23579029] Protective effect of interleukin-23A (IL23A) haplotype variants on type 1A diabetes mellitus in a Brazilian population
[PMID 23137879] Evaluation of IL17A expression and of IL17A, IL17F and IL23R gene polymorphisms in Brazilian individuals with periodontitis
[PMID 24140476] Genetic variations in IL6 and IL12B decreasing the risk for psoriasis
[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.
[PMID 23071489] SNP-SNP interactions discovered by logic regression explain Crohn's disease genetics.
[PMID 23563201] The IL23R A/Gln381 allele promotes IL-23 unresponsiveness in human memory T-helper 17 cells and impairs Th17 responses in psoriasis patients.
[PMID 23662788] The relationship between tumour necrosis factor (TNF)-alpha promoter and IL12B/IL-23R genes polymorphisms and the efficacy of anti-TNF-alpha therapy in psoriasis: a case-control study.
[PMID 23818276] Brief report: the IL23R nonsynonymous polymorphism rs11209026 is associated with radiographic sacroiliitis in spondyloarthritis.
[PMID 24957500] Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severity, psoriatic arthritis and type 2 diabetes mellitus
[PMID 24971461] Polymorphisms in the Inflammatory Pathway Genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1A, IL6R, IL10, IL23R, PTPN22, and PPARG Are Associated with Susceptibility of Inflammatory Bowel Disease in a Danish Cohort