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rs7517847

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome1
Position67215986
GeneIL23R
is asnp
is mentioned by
dbSNPrs7517847
ebirs7517847
HLIrs7517847
Exacrs7517847
Varsomers7517847
Maprs7517847
PheGenIrs7517847
hapmaprs7517847
1000 genomesrs7517847
hgdprs7517847
ensemblrs7517847
gopubmedrs7517847
geneviewrs7517847
scholarrs7517847
googlers7517847
pharmgkbrs7517847
gwascentralrs7517847
openSNPrs7517847
23andMers7517847
23andMe allrs7517847
SNP Nexus

SNPshotrs7517847
SNPdbers7517847
MSV3drs7517847
GWAS Ctlgrs7517847
GMAF0.4031
Max Magnitude0
? (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 18698678OA-icon.png] Replicated reduced risk for Crohn's disease with the rs7517847(G) allele in a study of Italian patients, but not ulcerative colitis.

[PMID 21253534OA-icon.png] 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 17068223OA-icon.png]
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 17435756OA-icon.png]
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
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 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 21079743OA-icon.png] 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 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 17901940] Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction.

[PMID 17924341OA-icon.png] 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 19175939OA-icon.png] 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 19468064OA-icon.png] 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 20454450OA-icon.png] Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.

[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
rs7517847
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.351562
summary



[PMID 23093364] Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis


[PMID 23840727OA-icon.png] 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 24823311OA-icon.png]
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 25922796OA-icon.png] Association between rs7517847 and rs2201841 polymorphisms in IL-23 receptor gene and risk of ankylosing spondylitis: a meta-analysis