rs17810546

This is a regulatory region variant variant in the IL12A-AS1 gene.

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

celiac disease

Allele G
OR 1.36
p 4.0e-28
N 15,283
Large GWAS
European
Allele G
OR 1.35
p 1.0e-9
N 2,189
Large GWAS
European

Behcet's syndrome

Allele G
OR 1.66
p 1.0e-10
N 6,179
Large GWAS
multi-ancestry

Research that mentions this SNP (3)

Genetic variants associated with celiac disease and the risk for coronary artery disease
Meta-analysisN=86,995Henning Jansen et al.(2015)· Molecular Genetics and Genomics

This meta-analysis of 22,233 CAD cases and 64,762 controls tested 41 celiac disease-associated SNPs for association with coronary artery disease (CAD). While 58.5% of celiac disease risk alleles showed positive association with CAD (OR 1.001-1.081), this was not significantly different from the 50% expected by chance (p=0.069). Only rs653178 at the SH2B3/ATXN2 locus achieved study-wide statistical significance (OR 1.081, p=2.2×10⁻⁶), likely through pleiotropic effects. The findings provide no convincing evidence that genetic variants associated with celiac disease contribute to CAD risk.

Traits studied:Celiac diseaseCoronary artery disease
Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome‐wide association study
AssociationN=4,539Shengping Hou et al.(2012)· Arthritis &amp; Rheumatism

This Immunochip-based genetic analysis of Behçet's disease in a Spanish population (278 cases, 1,517 controls; 130 cases, 605 controls in replication) identified HLA-B*51 as the primary susceptibility marker (P=6.82E-32, OR=3.82), with independent signals from HLA-B*57 and HLA-A*03. Outside the HLA region, the study confirmed IL23R (rs10889664: P=3.81E-12, OR=2.00), IL12A (rs1874886: P=1.62E-08, OR=1.61), and identified a novel association in the JRKL/CNTN5 region (rs2848479: P=3.29E-10, OR=1.66).

Traits studied:Behçet's disease
Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes
AssociationN=16,292Rafiq S. et al.(2008)· Diabetologia

A meta-analysis of 4,107 type 2 diabetes cases and 5,187 controls from three GWA studies found no evidence that common variants altering circulating inflammatory protein levels (IL-18, IL-6R, CRP, IL1RN, PAI1, MIF) or variants predisposing to autoimmune diseases (type 1 diabetes, rheumatoid arthritis, Crohn's disease, celiac disease, multiple sclerosis, SLE) are associated with type 2 diabetes risk. For example, rs2250417 in IL18 showed OR=1.00 (95% CI 0.99-1.03) versus the expected OR of ~1.15 if inflammation were causal, suggesting inflammatory markers are likely secondary rather than causative in type 2 diabetes.

Traits studied:Ankylosing spondylitisAutoimmune diseasesC-reactive protein levelsCeliac diseaseCoeliac diseaseCrohn's diseaseIL-1 receptor antagonist levelsIL-18 levelsIL-6 levelsInflammatory diseasesInflammatory protein levelsMacrophage migration inhibitory factor levelsMultiple sclerosisPlasminogen activator inhibitor-1 levelsRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesType 2 diabetes

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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