rs7517847
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0.65x reduced risk for Crohn's disease | |
| (G;T) | possibly reduced risk for Crohn's disease | |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 67215986 |
| Gene | IL23R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7517847 |
| dbSNP (classic) | rs7517847 |
| ClinGen | rs7517847 |
| ebi | rs7517847 |
| HLI | rs7517847 |
| Exac | rs7517847 |
| Gnomad | rs7517847 |
| Varsome | rs7517847 |
| LitVar | rs7517847 |
| Map | rs7517847 |
| PheGenI | rs7517847 |
| Biobank | rs7517847 |
| 1000 genomes | rs7517847 |
| hgdp | rs7517847 |
| ensembl | rs7517847 |
| geneview | rs7517847 |
| scholar | rs7517847 |
| rs7517847 | |
| pharmgkb | rs7517847 |
| gwascentral | rs7517847 |
| openSNP | rs7517847 |
| 23andMe | rs7517847 |
| SNPshot | rs7517847 |
| SNPdbe | rs7517847 |
| MSV3d | rs7517847 |
| GWAS Ctlg | rs7517847 |
| GMAF | 0.4031 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
10.1371/journal.pone.0023473 the association may be specific to Crohn's disease, as opposed to all types of IBD.
[PMID 18047539] significant associations with rs1004819, rs7517847, and rs11209026. Having any CARD15 variant was associated with a significant risk for Crohn's disease (P < 0.0001).
[PMID 17508420] rs7517847 (P=4.9x10(-9), OR 0.65, 0.56-0.75), is statistically independent of rs11209026.
[PMID 18698678
] Replicated reduced risk for Crohn's disease with the rs7517847(G) allele in a study of Italian patients, but not ulcerative colitis.
[PMID 21253534] Each incidence of the G allele was associated with a decrease in Crohn's Disease in New Zealand populations studied.
| GWAS | |
|---|---|
| SNP | rs7517847 |
| PubMedID | [PMID 17068223]
|
| Condition | Inflammatory bowel disease |
| Gene | IL23R |
| Risk Allele | C |
| pValue | 4.00E-013 |
| OR | 1.61 |
| 95% CI | 1.35-1.92 |
| GWAS snp | |
|---|---|
| PMID | [PMID 17435756]
|
| Trait | Crohn's disease |
| Title | Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis |
| Risk Allele | |
| P-val | 3.0000000000000001E-12 |
| Odds Ratio | NR NR |
[PMID 19034457] Lack of association between interleukin 23 receptor gene polymorphisms and rheumatoid arthritis susceptibility
[PMID 19895338] The Association Between Interleukin-23 Receptor Gene Polymorphisms and Systemic Lupus Erythematosus
[PMID 20157760] Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: a meta-analysis
[PMID 20375120] IL-23R gene confers susceptibility to Behcet's disease in a Chinese Han population
[PMID 19953089] Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease
[PMID 21079743] Interaction of Crohn's Disease Susceptibility Genes in an Australian Paediatric Cohort
[PMID 21206965] IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes
[PMID 22089529] Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis
[PMID 22735800] IL-23 Receptor Gene rs7517847 and rs1004819 SNPs in Ulcerative Colitis
[PMID 22378604] Association study of IL10 and IL23R-IL12RB2 in Iranian Behçet's disease patients.
[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 17901940] Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction.
[PMID 17924341] Fine mapping versus replication in whole-genome association studies.
[PMID 18200510] CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population.
[PMID 18368064] IL23R: a susceptibility locus for celiac disease and multiple sclerosis?
[PMID 18383521] IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction.
[PMID 19175939] IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.
[PMID 19306001] No association between interleukin 23 receptor gene polymorphisms and systemic lupus erythematosus.
[PMID 19468064] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.
[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 20116410] Polymorphisms of IL23R and Vogt-Koyanagi-Harada syndrome in a Chinese Han population.
[PMID 20192940] Association of the interleukin-23 receptor gene variant rs11209026 with Crohn's disease in German children.
[PMID 20454450] Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.
[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 23093364] Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis
[PMID 23840727] IL23R Gene Confers Susceptibility to Ankylosing Spondylitis Concomitant with Uveitis in a Han Chinese Population
[PMID 22718508] Association of interleukin 23 receptor gene polymorphisms (rs10489629, rs7517847) with rheumatoid arthritis in European population: a meta-analysis.
[PMID 23053963] Associations between interleukin-23 receptor polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis.
[PMID 23564312] Polymorphisms of the IL-23R gene are associated with primary immune thrombocytopenia but not with the clinical outcome of pulsed high-dose dexamethasone therapy.
| GWAS snp | |
|---|---|
| PMID | [PMID 24823311]
|
| Trait | Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) |
| Title | Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. |
| Risk Allele | T |
| P-val | 4E-6 |
| Odds Ratio | .19 [NR] unit increase |
[PMID 25922796] Association between rs7517847 and rs2201841 polymorphisms in IL-23 receptor gene and risk of ankylosing spondylitis: a meta-analysis
[PMID 28210080] IL23R single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis.
[PMID 28289589] Polymorphism of the IL13 gene may be associated with Uterine leiomyomas in Slovenian women.
[PMID 29050281] IL-23R and IL-17A polymorphisms correlate with susceptibility of ankylosing spondylitis in a Southwest Chinese population.
[PMID 31052515] Relationship between the IL23R SNPs and Crohn's Disease Susceptibility and Phenotype in the Polish and Bosnian Populations: A Case-Control Study.
[PMID 31701644] Association analysis of interleukin-23 receptor SNPs and SAPHO syndrome in Chinese people.
