{{Rsnum
|rsid=1004819
|Gene=IL23R
|Chromosome=1
|position=67204530
|Orientation=minus
|GMAF=0.3558
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=IL23R
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 51.3 | 39.8 | 8.8
| HCB | 18.2 | 50.4 | 31.4
| JPT | 19.5 | 46.9 | 33.6
| YRI | 42.2 | 47.6 | 10.2
| ASW | 47.4 | 50.9 | 1.8
| CHB | 18.2 | 50.4 | 31.4
| CHD | 14.7 | 48.6 | 36.7
| GIH | 17.8 | 49.5 | 32.7
| LWK | 54.5 | 37.3 | 8.2
| MEX | 53.4 | 41.4 | 5.2
| MKK | 48.7 | 42.9 | 8.3
| TSI | 39.2 | 53.9 | 6.9
| HapMapRevision=28
}}SNP [[rs1004819]], in the [[IL23R]] gene, is associated with increased risk for [[Crohn's disease]] in both Jewish and non-Jewish populations. {{PMID|17068223}}

The same risk allele is also reported to increase the risk for developing [[ankylosing spondylitis]], based on a large study of over 1,000 Caucasian patients. The odds ratio is 1.2 (p=8.8x10e-5).[PMID 17952073, PMID 18037607]

{{PMID|18047539}} significant associations with [[rs1004819]], [[rs7517847]], and [[rs11209026]]. Having any CARD15 variant was associated with a significant risk for CD (P < 0.0001). 

{{GWAS Summary
|SNP=rs1004819
|PubMedID=17804789
|Condition=Crohn's disease
|Gene=IL23R
|Risk Allele=
|pValue=1.00E-008
|OR=1.38
|95CI=1.23-1.53
|OA=1
}}
{{ neighbor
| rsid = 2902440
| distance = 702
}}

{{PMID Auto
|PMID=19455118
|Title=Novel Genetic Risk Markers for Ulcerative Colitis in the IL2/IL21 Region Are in Epistasis With IL23R and Suggest a Common Genetic Background for Ulcerative Colitis and Celiac Disease
}}
{{PMID Auto
|PMID=19455129
|Title=Epistasis Between Toll-Like Receptor-9 Polymorphisms and Variants in NOD2 and IL23R Modulates Susceptibility to Crohn's Disease
}}

{{omim
|id=612261
|desc=INFLAMMATORY BOWEL DISEASE 17; IBD17
|rsnum=1004819
}}

{{omim
|desc=INTERLEUKIN 23 RECEPTOR; IL23R
|id=607562
|rsnum=1004819
}}
{{PMID Auto
|PMID=19034457
|Title=Lack of association between interleukin 23 receptor gene polymorphisms and rheumatoid arthritis susceptibility
}}

{{PMID Auto
|PMID=19334001
|Title=Contribution of IL23R but not ATG16L1 to Crohn's disease susceptibility in Koreans
}}
{{PMID Auto
|PMID=19917163
|Title=Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population
}}

{{PharmGKB
|RSID=rs1004819
|Name_s=
|Gene_s=IL23R
|Feature=
|Evidence=PubMed ID:17804789; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci (Initial Sample Size: 382 trios; Replication Sample Size: 521 trios, 750 cases, 828 controls). This variant is associated with Crohn's disease. This variant is associated with Crohn's disease.
|Drugs=
|Drug Classes=
|Diseases=Crohn Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356489
}}

{{PMID Auto
|PMID=22089529
|Title=Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis
}}

{{PMID Auto
|PMID=22440928
|Title=Perianal Crohn's Disease: Predictive Factors and Genotype-Phenotype Correlations
|OA=1
}}

{{PMID Auto
|PMID=22735800
|Title=IL-23 Receptor Gene rs7517847 and rs1004819 SNPs in Ulcerative Colitis
}}

{{PMID|17678723}} Investigation of the IL23R gene in a Spanish rheumatoid arthritis cohort.

{{PMID|17786191|OA=1
}} rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.

{{PMID|18200510}} CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population.

{{PMID|18439550|OA=1
}} Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

{{PMID|18470928|OA=1
}} IL23R haplotypes provide a large population attributable risk for Crohn's disease.

{{PMID|18698678|OA=1
}} Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

{{PMID|18715515|OA=1
}} Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.

{{PMID|18779654|OA=1
}} Association of polymorphisms in the Interleukin 23 receptor gene with osteonecrosis of femoral head in Korean population.

{{PMID|19122664|OA=1
}} Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

{{PMID|19175939|OA=1
}} IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.

{{PMID|19235914|OA=1
}} Genetic epistasis of IL23/IL17 pathway genes in Crohn's disease.

{{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|19916168|OA=1
}} Genome-wide association studies--a summary for the clinical gastroenterologist.

{{PMID|19918037|OA=1
}} Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.

{{PMID|20066736|OA=1
}} Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients.

{{PMID|20195480|OA=1
}} The cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease.

{{PMID|20380008|OA=1
}} NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease.

{{PMID|20454450|OA=1
}} Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.

{{PMID|21253733}} Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.

{{PMID|21304977|OA=1
}} An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

{{PMID Auto
|PMID=23054009
|Title=Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn's disease and ankylosing spondylitis
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1004819
|overall_frequency_n=39
|overall_frequency_d=128
|overall_frequency=0.304688
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=33
|n_articles=0
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=24415875
|Title=Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
|OA=1
}}

{{PMID Auto
|PMID=22908971
|Title=Association between inflammatory bowel disease gene 5 (IBD5) and interleukin-23 receptor (IL23R) genetic polymorphisms in Malaysian patients with Crohn's disease.
}}

{{PMID Auto
|PMID=23053963
|Title=Associations between interleukin-23 receptor polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis.
}}

{{PMID Auto
|PMID=24998354
|Title=Determination of IL-23 receptor gene polymorphism in Iranian patients with ankylosing spondylitis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}