Rs1343151

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Orientationminus
Geno Mag Summary
(C;C) 0 normal risk
(C;T) 0.8x lower risk for spondylitis
(T;T) 0.8x lower risk for spondylitis
ReferenceGRCh38 38.1/141
Chromosome1
Position67253446
GeneIL23R
is asnp
is mentioned by
dbSNPrs1343151
Exacrs1343151
PheGenIrs1343151
nextbiors1343151
hapmaprs1343151
1000 genomesrs1343151
hgdprs1343151
ensemblrs1343151
gopubmedrs1343151
geneviewrs1343151
scholarrs1343151
googlers1343151
pharmgkbrs1343151
gwascentralrs1343151
openSNPrs1343151
23andMers1343151
23andMe allrs1343151
SNP Nexus

SNPshotrs1343151
SNPdbers1343151
MSV3drs1343151
GMAF0.3237
? (C;C) (C;T) (T;T) 28
rs1343151 is one of several SNPs in the IL23R gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. The odds ratio is 0.8 (p=1.0x10e-5).[PMID 17952073, PMID 18037607]

[PMID 18647855] rs1343151 with rheumatoid arthritis (OR=1.14 [1.06-1.22], P=4x10-4)

rs1343151 was not associated with rheumatoid arthritis in a study of 1,200+ Korean patients. [PMID 19034457]

[PMID 21253534OA-icon.png] A;A homozygous individuals showed a strongly reduced risk of Crohn's Disease compared those who were G;G homozygous.

GWAS
SNP rs1343151
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



[PMID 21285166] Role of rs1343151 IL23R and rs3790567 IL12RB2 Polymorphisms in Biopsy-proven Giant Cell Arteritis


[PMID 22089529] Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis


[PMID 17068223] A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.


[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 18199597] The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis.


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


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


[PMID 20116410] Polymorphisms of IL23R and Vogt-Koyanagi-Harada syndrome in a Chinese Han population.


[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 21926184] Replication of association of the interleukin 23 receptor rs1343151 variant with rheumatoid arthritis in Caucasian sample sets.


[PMID 23054009] Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn's disease and ankylosing spondylitis


GET Evidence
rs1343151
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.414062
summary



[PMID 23053963] Associations between interleukin-23 receptor polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis.


[PMID 23274341] Infliximab-induced psoriasis and psoriasiform skin lesions in pediatric Crohn disease and a potential association with IL-23 receptor polymorphisms.