rs13015714

This variant is located in the IL18R1 gene.

GWAS Catalog Trait Associations (4)

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

cerebrospinal fluid composition attribute

Sasayama D et al. Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. Human Molecular Genetics 26(1):44-51 (2017)
Allele C
OR
p 7.0e-18
N 133
Small GWAS
East Asian

atopic eczema

Allele G
OR 1.27
p 8.0e-18
N 9,443
Large GWAS
East Asian
Allele G
OR 1.10
p 2.0e-12
N 116,863
Large GWAS
multi-ancestry

extranodal nasal NK/T cell lymphoma

Allele G
OR 1.39
p 3.0e-16
N 8,452
Large GWAS
East Asian

celiac disease

Allele C
OR 1.28
p 4.0e-9
N 2,189
Large GWAS
European

Research that mentions this SNP (2)

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
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

About IL18R1

The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

View all IL18R1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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