|(A;A)||1.5||1.5x increased risk for certain autoimmune diseases|
|(A;C)||2||1.5x increased risk for certain autoimmune diseases; 2x increased risk for Graves disease|
|(C;C)||2||Baseline (average) risk for certain autoimmune diseases; however, 2.3x increased risk for Graves disease|
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=1.3x10â€“4), and the homozygous rs10889677(C;C) genotype was also overrepresented (2.36x; p=1.4x10-4) in Graves ophthalmopathy patients.[PMID 18073300]
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]
[PMID 19317742] Interleukin-23 receptor gene polymorphisms is associated with dilated cardiomyopathy in Chinese Han population.
[PMID 19895338] The Association Between Interleukin-23 Receptor Gene Polymorphisms and Systemic Lupus Erythematosus
[PMID 20082850] Association of interleukin-23 receptor gene polymorphisms with risk of ovarian cancer
[PMID 20863779] IL23R +2199A/C polymorphism is associated with decreased risk of certain subtypes of gastric cancer in Chinese: A case-control study
[PMID 21717520] Interleukin-23 receptor polymorphism as a risk factor for oral cancer susceptibility
[PMID 22045842] Association of IL-12B Genetic Polymorphism with the Susceptibility and Disease Severity of Ankylosing Spondylitis
[PMID 17606463] Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis.
[PMID 17678723] Investigation of the IL23R gene in a Spanish rheumatoid arthritis cohort.
[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 17901940] Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction.
[PMID 18200510] CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population.
[PMID 18521914] Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions.
[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 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 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 19918037] Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.
[PMID 20454450] Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.
[PMID 20978829] Polymorphisms of the IL23R gene are associated with psoriasis but not with immunoglobulin A nephropathy in a Hungarian population.
[PMID 21253733] Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.
[PMID 22262659] Cutting edge: a variant of the IL-23R gene associated with inflammatory bowel disease induces loss of microRNA regulation and enhanced protein production.
[PMID 23042301] Functional genetic variations in the IL-23 receptor gene are associated with risk of breast, lung and nasopharyngeal cancer in Chinese populations
[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 23239971] A miRNA Binding Site Single-Nucleotide Polymorphism in the 3'-UTR Region of the IL23R Gene Is Associated with Breast Cancer
[PMID 23579029] Protective effect of interleukin-23A (IL23A) haplotype variants on type 1A diabetes mellitus in a Brazilian population
[PMID 23807368] Correlation between interleukin‑23 receptor gene polymorphisms and risk of hepatitis B virus infection in patients
[PMID 24076440] Interleukin-23 receptor genetic variants contribute to susceptibility of multiple cancers
[PMID 24278297] Functional IL-23R rs10889677 Genetic Polymorphism and Risk of Multiple Solid Tumors: a Meta-Analysis
[PMID 23754344] Lack of association between IL-23R gene polymorphisms and systemic lupus erythematosus in a Chinese population
[PMID 23564312] 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 24861772] Association of interleukin-23 receptor gene polymorphisms with risk of bladder cancer in Chinese
[PMID 25680555] Interleukin-17FT7488 allele is associated with a decreased risk of colorectal cancer and tumor progression
[PMID 25858864] Evidence of association of Interleukin 23 receptor gene polymorphisms with Egyptian Rheumatoid Arthritis patients
[PMID 26399911] Associations between interleukin and interleukin receptor gene polymorphisms and risk of gout
[PMID 26463605] [Polymorphisms of IL-23 receptor gene are associated with susceptibility to pulmonary tuberculosis and drug-resistant pulmonary tuberculosis]
[PMID 28210080] IL23R single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis.