From SNPedia
| Genotype | Effect |
|---|
| rs10889677(A;A) | 1.5x risk for certain autoimmune diseases |
| rs10889677(A;C) | 1.5x risk for certain autoimmune diseases; 2x risk for Graves disease |
| rs10889677(C;C) | 1x risk for certain autoimmune diseases; 2.3x risk for Graves disease |
SNP
rs10889677, 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 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=1.3x10–4), 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]
| ? | (A;A) (A;C) (C;C) |
|---|
 |
[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
| PharmGKB | PA164740079 |
| Name | |
| Annotation | GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 1p31.3; Reported Gene(s): IL23R; Risk Allele: rs10889677-A); (p-value= 0.00000001).This variant is associated with Ulcerative colitis. |
| Gene | IL23R |
| Featue | |
| Evidence | PubMed ID:19122664; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Colitis, Ulcerative |
| Curation Level | Non-Curated |
[PMID 20082850] Association of interleukin-23 receptor gene polymorphisms with risk of ovarian cancer
