From SNPedia
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).
| ? | (C;C) (C;T) (T;T) |
|---|
 |
[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
Related to INFLAMMATORY BOWEL DISEASE 17; IBD17
according to
omim 612261. See
also
Related to INTERLEUKIN 23 RECEPTOR; IL23R
according to
omim 607562. See
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
| PharmGKB | PA162356489 |
| Name | |
| Annotation | GWAS results: Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci (Initial Sample Size: 382 trios; Replication Sample Size: 521 trios, 750 cases, 828 controls). This variant is associated with Crohn's disease. This variant is associated with Crohn's disease. |
| Gene | IL23R |
| Featue | |
| Evidence | PubMed ID:17804789; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Crohn Disease |
| Curation Level | Non-Curated |
