Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Geno Mag Summary
(A;A) 2
(C;C) 2 1.5x increased risk for Crohn's disease
(C;T) 2 1.5x increased risk for Crohn's disease; 2x increased risk for Graves' disease
(T;T) 2 2.4x increased risk for Graves' disease
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs2201841
1000 genomesrs2201841
GWAS Ctlgrs2201841
Max Magnitude2
? (C;C) (C;T) (T;T) 28

SNP rs2201841, in the IL23R gene, is associated with increased risk for Crohn's disease in both Jewish and non-Jewish populations. [PMID 17068223OA-icon.png]

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 18073300OA-icon.png]

23andMe blog psoriasis Europeans

SNP rs2201841
PubMedID [PMID 17804789OA-icon.png]
Condition Crohn's disease
Gene IL23R
Risk Allele
pValue 1.00E-008
OR 1.38
95% CI 1.23-1.53

GWAS snp
PMID [PMID 19169254OA-icon.png]
Trait Psoriasis
Title Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways
Risk Allele G
P-val 3E-8
Odds Ratio 1.13 None

[PMID 19034457] Lack of association between interleukin 23 receptor gene polymorphisms and rheumatoid arthritis susceptibility

GWAS snp
PMID [PMID 20228799OA-icon.png]
Trait Ulcerative colitis
Title Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Risk Allele A
P-val 1E-13
Odds Ratio 1.27 [NR]

[PMID 22089529] Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis

[PMID 22440928OA-icon.png] Perianal Crohn's Disease: Predictive Factors and Genotype-Phenotype Correlations

[PMID 22411504OA-icon.png] 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 17786191OA-icon.png] 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 18470928OA-icon.png] 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 19175939OA-icon.png] IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.

[PMID 19262574OA-icon.png] 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 20066736OA-icon.png] Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients.

[PMID 20444268OA-icon.png] Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.

[PMID 20454450OA-icon.png] Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.

[PMID 20606885OA-icon.png] 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 21253569OA-icon.png] Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?

[PMID 21304977OA-icon.png] 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

[PMID 23093364] Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis

[PMID 24415875OA-icon.png] 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.

[PMID 24957500] Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severity, psoriatic arthritis and type 2 diabetes mellitus

[PMID 25858864] Evidence of association of Interleukin 23 receptor gene polymorphisms with Egyptian Rheumatoid Arthritis patients

[PMID 25922796OA-icon.png] Association between rs7517847 and rs2201841 polymorphisms in IL-23 receptor gene and risk of ankylosing spondylitis: a meta-analysis

[PMID 28210080OA-icon.png] IL23R single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis.

[PMID 30924147] Are genetic variations in IL-21-IL-23R-IL-17A cytokine axis involved in a pathogenic pathway of rheumatoid arthritis? Bayesian hierarchical meta-analysis.

[PMID 31701644] Association analysis of interleukin-23 receptor SNPs and SAPHO syndrome in Chinese people.

[PMID 33383665OA-icon.png] Apremilast Pharmacogenomics in Russian Patients with Moderate-to-Severe and Severe Psoriasis.