rs1004819

minus

Geno	Mag	Summary
(C;C)	1	1.5x risk of Crohn's disease, 1.2 for developing ankylosing spondylitis
(C;T)	1	1.5x risk of Crohn's disease, 1.2 for developing ankylosing spondylitis
(T;T)		common

Reference

GRCh38 38.1/141

Chromosome

1

Position

67204530

Gene

IL23R

is a	snp
is	mentioned by
dbSNP	rs1004819
dbSNP (classic)	rs1004819
ClinGen	rs1004819
ebi	rs1004819
HLI	rs1004819
Exac	rs1004819
Gnomad	rs1004819
Varsome	rs1004819
LitVar	rs1004819
Map	rs1004819
PheGenI	rs1004819
Biobank	rs1004819
1000 genomes	rs1004819
hgdp	rs1004819
ensembl	rs1004819
geneview	rs1004819
scholar	rs1004819
google	rs1004819
pharmgkb	rs1004819
gwascentral	rs1004819
openSNP	rs1004819
23andMe	rs1004819
SNPshot	rs1004819
SNPdbe	rs1004819
MSV3d	rs1004819
GWAS Ctlg	rs1004819

GMAF

0.3558

Max Magnitude

1

?

(C;C) (C;T) (T;T)

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
SNP	rs1004819
PubMedID	[PMID 17804789 ]
Condition	Crohn's disease
Gene	IL23R
Risk Allele
pValue	1.00E-008
OR	1.38
95% CI	1.23-1.53

[PMID 19455118] 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 19455129] Epistasis Between Toll-Like Receptor-9 Polymorphisms and Variants in NOD2 and IL23R Modulates Susceptibility to Crohn's Disease

OMIM	612261
Desc	INFLAMMATORY BOWEL DISEASE 17; IBD17
Variant
Related	also

OMIM	607562
Desc	INTERLEUKIN 23 RECEPTOR; IL23R
Variant
Related	also

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

[PMID 19334001] Contribution of IL23R but not ATG16L1 to Crohn's disease susceptibility in Koreans

[PMID 19917163] Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population

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

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

[PMID 22735800] 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 ] 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 ] Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

[PMID 18470928 ] IL23R haplotypes provide a large population attributable risk for Crohn's disease.

[PMID 18698678 ] Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

[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 18779654 ] Association of polymorphisms in the Interleukin 23 receptor gene with osteonecrosis of femoral head in Korean population.

[PMID 19122664 ] Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

[PMID 19175939 ] IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.

[PMID 19235914 ] 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 ] Genome-wide association studies--a summary for the clinical gastroenterologist.

[PMID 19918037 ] Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.

[PMID 20066736 ] Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients.

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

[PMID 20380008 ] NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease.

[PMID 20454450 ] 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 ] 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 24415875 ] Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions

[PMID 22908971] Association between inflammatory bowel disease gene 5 (IBD5) and interleukin-23 receptor (IL23R) genetic polymorphisms in Malaysian patients with Crohn's disease.

[PMID 23053963] Associations between interleukin-23 receptor polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis.

[PMID 24998354] Determination of IL-23 receptor gene polymorphism in Iranian patients with ankylosing spondylitis

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

[PMID 31052515 ] Relationship between the IL23R SNPs and Crohn's Disease Susceptibility and Phenotype in the Polish and Bosnian Populations: A Case-Control Study.