Rs11209026

A relatively rare allele at SNP rs11209026, in the IL23R gene, appears to provide a fairly strong protective effect against the development of Crohn's disease in both Jewish and non-Jewish populations. [PMID 17068223]

Note that in this study the (A;A) and (A;G) genotypes were combined for statistical reasons (there were too few (A;A) individuals to study by themselves), so the risk is shown as equal for both.

[PMID 18047540] associated With Inflammatory Bowel Diseases but Not With Celiac Disease rs11209026 had a protective effect for IBD in the case-control analysis (odds ratio [OR] 0.19, 95% confidence interval [CI] 0.10-0.37, P= 6.6E-09). Both CD (OR 0.14, CI 0.06-0.37, P= 3.9E-07) and UC (OR 0.33, CI 0.15-0.73, P= 1.4E-03) were associated with IL23R. rs2241880 was associated with CD susceptibility (OR 1.36, CI 1.12-1.66, P= 0.0017). The population-attributable risk of carrying allele G is 0.24 and is 0.19 for homozygosity for allele G in CD.

With reference to ankylosing spondylitis, the rs11209026(A) allele also has a protective effect. The odds ratio for carriers is 0.63 (p=2.8x10e-5) based on a large study of over 1,000 Caucasian patients.[PMID 17952073, PMID 18037607]

This SNP is also part of a haplotype with rs7530511 associated with psoriasis.[PMID 18219280]. And in [PMID 18369459] rs11209026 was also confirmed to be associated with psoriasis.

[PMID 18047539] significant associations with rs1004819, rs7517847, and rs11209026. Having any CARD15 variant was associated with a significant risk for CD (P < 0.0001).

[PMID 18698678] Replicated reduced risk for Crohn's disease and ulcerative colitis with rs11209026(A) allele in a study of Italian patients.

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]

GWAS
SNP	rs11209026
PubMedID	[PMID 17068223]
Condition	Inflammatory bowel disease
Gene	IL23R
Risk Allele	A
pValue	4.00E-011
OR	3.84
95% CI	2.33-6.66

[PMID 19174780] Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort

GWAS snp
PMID	[PMID 18758464]
Trait	Inflammatory bowel disease
Title	Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Risk Allele
P-val	7.0000000000000004E-11
Odds Ratio	2.56 [1.92-3.45]

GWAS snp
PMID	[PMID 17447842]
Trait	Crohn's disease
Title	Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
Risk Allele
P-val	2.0000000000000001E-18
Odds Ratio	2.92 [NR]

[PMID 19590455] Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population

[PMID 19877036] Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population

GWAS snp
PMID	[PMID 19915572]
Trait	Ulcerative colitis
Title	Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region
Risk Allele
P-val	3E-10
Odds Ratio	NR NR

GWAS snp
PMID	[PMID 20062062]
Trait	Ankylosing spondylitis
Title	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci
Risk Allele
P-val	9E-14
Odds Ratio	1.89 [1.56-2.27]

[PMID 20157760] Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: a meta-analysis

[PMID 19705136] Genetic evidence for involvement of the IL23 pathway in Thai psoriatics

[PMID 20380008] NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease

[PMID 20537165] The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease

[PMID 20485703] Replication and meta-analysis of 13,000 cases defines the risk for interleukin-23 receptor and autophagy-related 16-like 1 variants in Crohn's disease

[PMID 20650992] Association of IBD Risk Loci with Sarcoidosis and its Acute and Chronic Subphenotypes

[PMID 21206965] IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes

GWAS snp
PMID	[PMID 21102463]
Trait
Title	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
Risk Allele	G
P-val	1E-64
Odds Ratio	2.6600 [2.36-3.00]

GWAS snp
PMID	[PMID 20953190]
Trait
Title	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
Risk Allele
P-val	7E-7
Odds Ratio	1.4900 [1.27-1.74]

GWAS snp
PMID	[PMID 21297633]
Trait
Title	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Risk Allele	G
P-val	5E-28
Odds Ratio	1.7400 [1.57-1.92]

GWAS snp
PMID	[PMID 21743469]
Trait
Title	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
Risk Allele	G
P-val	2E-17
Odds Ratio	None None

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

[PMID 22130325] IL-23R rs11209026 polymorphism modulates IL-17A expression in patients with rheumatoid arthritis

[PMID 22440928] Perianal Crohn's Disease: Predictive Factors and Genotype-Phenotype Correlations

[PMID 21896776] Role of Interleukin-23 (IL-23) Receptor Signaling for IL-17 Responses in Human Lyme Disease.