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 21253534] A;A homozygous individuals showed a strongly reduced risk of Crohn's Disease compared those who were G;G homozygous.
[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 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 18199597] The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis.
[PMID 18470928] IL23R haplotypes provide a large population attributable risk for Crohn's disease.
[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 19918037] 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 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 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
|qualified_impact||Insufficiently evaluated pharmacogenetic|