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rs1004819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 1.5x risk of Crohn's disease
(C;T) 1.5x risk of Crohn's disease
(T;T) common
ReferenceGRCh38 38.1/141
Chromosome1
Position67204530
GeneIL23R
is asnp
is mentioned by
dbSNPrs1004819
ebirs1004819
HLIrs1004819
Exacrs1004819
Varsomers1004819
Maprs1004819
PheGenIrs1004819
hapmaprs1004819
1000 genomesrs1004819
hgdprs1004819
ensemblrs1004819
gopubmedrs1004819
geneviewrs1004819
scholarrs1004819
googlers1004819
pharmgkbrs1004819
gwascentralrs1004819
openSNPrs1004819
23andMers1004819
23andMe allrs1004819
SNP Nexus

SNPshotrs1004819
SNPdbers1004819
MSV3drs1004819
GWAS Ctlgrs1004819
GMAF0.3558
Max Magnitude0
? (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 17068223OA-icon.png]

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 17804789OA-icon.png]
Condition Crohn's disease
Gene IL23R
Risk Allele
pValue 1.00E-008
OR 1.38
95% CI 1.23-1.53
Neighborrs2902440
Distance702


[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

OMIM612261
DescINFLAMMATORY BOWEL DISEASE 17; IBD17
Variant
Relatedalso
OMIM607562
DescINTERLEUKIN 23 RECEPTOR; IL23R
Variant
Relatedalso

[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 22440928OA-icon.png] 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 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 18200510] CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population.

[PMID 18439550OA-icon.png] Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

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

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

[PMID 18715515OA-icon.png] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.

[PMID 18779654OA-icon.png] Association of polymorphisms in the Interleukin 23 receptor gene with osteonecrosis of femoral head in Korean population.

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

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

[PMID 19235914OA-icon.png] 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 19916168OA-icon.png] Genome-wide association studies--a summary for the clinical gastroenterologist.

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

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

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

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

[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 21253733] Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.

[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


GET Evidence
rs1004819
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.304688
summary



[PMID 24415875OA-icon.png] 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