rs11209032

plus

Geno	Mag	Summary
(A;A)		1.3x higher risk for spondylitis
(A;G)		1.3x higher risk for spondylitis
(G;G)	0	normal risk

Reference

GRCh38 38.1/141

Chromosome

1

Position

67274409

Gene

IL23R

is a	snp
is	mentioned by
dbSNP	rs11209032
dbSNP (classic)	rs11209032
ClinGen	rs11209032
ebi	rs11209032
HLI	rs11209032
Exac	rs11209032
Gnomad	rs11209032
Varsome	rs11209032
LitVar	rs11209032
Map	rs11209032
PheGenI	rs11209032
Biobank	rs11209032
1000 genomes	rs11209032
hgdp	rs11209032
ensembl	rs11209032
geneview	rs11209032
scholar	rs11209032
google	rs11209032
pharmgkb	rs11209032
gwascentral	rs11209032
openSNP	rs11209032
23andMe	rs11209032
SNPshot	rs11209032
SNPdbe	rs11209032
MSV3d	rs11209032
GWAS Ctlg	rs11209032

GMAF

0.3223

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

rs11209032 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 1.3 (p=7.5x10e-9).[PMID 17952073, PMID 18037607]

[PMID 18713787] rs11209032 and rs1495965 no significant association with systemic sclerosis

[PMID 19034457] Lack of association between interleukin 23 receptor gene polymorphisms and rheumatoid arthritis susceptibility

[PMID 20375120] IL-23R gene confers susceptibility to Behcet's disease in a Chinese Han population

[PMID 19690863] Single-nucleotide polymorphisms and expression of IL23R in Chinese ankylosing spondylitis patients

OMIM	106300
Desc
Variant
Related	also

[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 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 18470928 ] IL23R haplotypes provide a large population attributable risk for Crohn's disease.

[PMID 18853133 ] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

[PMID 19175939 ] IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.

[PMID 19189980] Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series.

[PMID 19306001] No association between interleukin 23 receptor gene polymorphisms and systemic lupus erythematosus.

[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 19849816 ] Genetics of rheumatic disease.

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

[PMID 20454450 ] 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 21304977 ] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

[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 24151497 ] Association Analysis of IL10, TNF-α, and IL23R-IL12RB2 SNPs with Behçet's Disease Risk in Western Algeria

[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.

[PMID 24998354] Determination of IL-23 receptor gene polymorphism in Iranian patients with ankylosing spondylitis

[PMID 26916345 ] An ankylosing spondylitis-associated genetic variant in the IL23R-IL12RB2 intergenic region modulates enhancer activity and is associated with increased Th1-cell differentiation.

[PMID 31814470] Association of Interleukin-23R Gene Polymorphisms with Behcet's Disease Susceptibility: A Meta-Analysis of Case-control Studies.