{{Rsnum
|rsid=10889677
|Gene=IL23R
|Chromosome=1
|position=67259437
|Orientation=plus
|GMAF=0.3646
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=IL23R
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 9.7 | 38.9 | 51.3
| HCB | 51.1 | 40.9 | 8.0
| JPT | 49.1 | 37.5 | 13.4
| YRI | 1.4 | 21.8 | 76.9
| ASW | 0.0 | 29.8 | 70.2
| CHB | 51.1 | 40.9 | 8.0
| CHD | 51.4 | 44.0 | 4.6
| GIH | 37.6 | 45.5 | 16.8
| LWK | 5.6 | 29.0 | 65.4
| MEX | 10.3 | 34.5 | 55.2
| MKK | 9.1 | 43.5 | 47.4
| TSI | 5.9 | 51.5 | 42.6
| HapMapRevision=28
}}SNP [[rs10889677]], 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 for this SNP has been associated with increased risk for [[ankylosing spondylitis]] in a large study of over 1,000 Caucasian patients. The odds ratio is 1.3 (p=1.3x10e-6).[PMID 17952073, PMID 18037607]

In a study of 216 North American patients with [[Graves' disease]], the C allele of [[rs10889677]] was 2.03x overrepresented (p=1.3x10<sup>â€“4</sup>), and the homozygous [[rs10889677]](C;C) genotype was also overrepresented (2.36x; p=1.4x10<sup>-4</sup>) in Graves ophthalmopathy patients.{{PMID|18073300|OA=1
}}

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|OA=1
}}

{{GWAS Summary
|SNP=rs10889677
|PubMedID=17804789
|Condition=Crohn's disease
|Gene=IL23R
|Risk Allele=
|pValue=1.00E-008
|OR=1.38
|95CI=1.23-1.53
|OA=1
}}
{{PMID Auto
|PMID=19317742
|Title=Interleukin-23 receptor gene polymorphisms is associated with dilated cardiomyopathy in Chinese Han population.
}}

{{PMID Auto
|PMID=19895338
|Title=The Association Between Interleukin-23 Receptor Gene Polymorphisms and Systemic Lupus Erythematosus
}}

{{PharmGKB
|RSID=rs10889677
|Name_s=
|Gene_s=IL23R
|Feature=
|Evidence=PubMed ID:19122664; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 1p31.3; Reported Gene(s): IL23R; Risk Allele: rs10889677-A); (p-value= 0.00000001).This variant is associated with Ulcerative colitis.
|Drugs=
|Drug Classes=
|Diseases=Colitis, Ulcerative
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740079
}}

{{PMID Auto
|PMID=20082850
|Title=Association of interleukin-23 receptor gene polymorphisms with risk of ovarian cancer
}}

{{PMID Auto
|PMID=20863779
|Title=IL23R +2199A/C polymorphism is associated with decreased risk of certain subtypes of gastric cancer in Chinese: A case-control study
}}

{{PMID Auto
|PMID=21717520
|Title=Interleukin-23 receptor polymorphism as a risk factor for oral cancer susceptibility
}}

{{PMID Auto
|PMID=22045842
|Title=Association of IL-12B Genetic Polymorphism with the Susceptibility and Disease Severity of Ankylosing Spondylitis
}}

{{PMID Auto
|PMID=17606463
|Title=Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis.
}}

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

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

{{PMID Auto
|PMID=17901940
|Title=Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction.
}}

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

{{PMID Auto
|PMID=18521914
|Title=Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions.
|OA=1
}}

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

{{PMID Auto
|PMID=19021011
|Title=Association studies of the IL-23R gene in autoimmune thyroid disease in the Japanese population.
}}

{{PMID Auto
|PMID=19103559
|Title=[Susceptibility genetic variants in Hungarian morbus Crohn and ulcerative colitis patients].
}}

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

{{PMID Auto
|PMID=19522770
|Title=Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjogren syndrome in Hungarian population samples.
}}

{{PMID Auto
|PMID=19757086
|Title=Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients.
}}

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

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

{{PMID Auto
|PMID=20978829
|Title=Polymorphisms of the IL23R gene are associated with psoriasis but not with immunoglobulin A nephropathy in a Hungarian population.
}}

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

{{PMID Auto
|PMID=22262659
|Title=Cutting edge: a variant of the IL-23R gene associated with inflammatory bowel disease induces loss of microRNA regulation and enhanced protein production.
}}

{{PMID Auto
|PMID=23042301
|Title=Functional genetic variations in the IL-23 receptor gene are associated with risk of breast, lung and nasopharyngeal cancer in Chinese populations
}}

{{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=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10889677
|overall_frequency_n=40
|overall_frequency_d=126
|overall_frequency=0.31746
|n_genomes=27
|n_genomes_annotated=0
|n_haplomes=33
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23093364
|Title=Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis
}}

{{PMID Auto
|PMID=23239971
|Title=A miRNA Binding Site Single-Nucleotide Polymorphism in the 3'-UTR Region of the IL23R Gene Is Associated with Breast Cancer
|OA=1
}}

{{PMID Auto
|PMID=23579029
|Title=Protective effect of interleukin-23A (IL23A) haplotype variants on type 1A diabetes mellitus in a Brazilian population
}}

{{PMID Auto
|PMID=23807368
|Title=Correlation between interleukin‑23 receptor gene polymorphisms and risk of hepatitis B virus infection in patients
}}

{{PMID Auto
|PMID=24076440
|Title=Interleukin-23 receptor genetic variants contribute to susceptibility of multiple cancers
}}

{{PMID Auto
|PMID=24278297
|Title=Functional IL-23R rs10889677 Genetic Polymorphism and Risk of Multiple Solid Tumors: a Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=23754344
|Title=Lack of association between IL-23R gene polymorphisms and systemic lupus erythematosus in a Chinese population
}}

{{PMID Auto
|PMID=23564312
|Title=Polymorphisms of the IL-23R gene are associated with primary immune thrombocytopenia but not with the clinical outcome of pulsed high-dose dexamethasone therapy.
}}

{{PMID Auto
|PMID=24861772
|Title=Association of interleukin-23 receptor gene polymorphisms with risk of bladder cancer in Chinese
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}