rs2250417

This is a upstream gene variant variant in the BCO2 gene.

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GWAS Catalog Trait Associations (1)

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

interleukin-1 beta measurement

Matteini AM et al. “Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.” Cytokine 65(1):10-6 (2014)
Allele T
OR 0.10
p 2.0e-32
N 4,443
Large GWAS
European
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Research that mentions this SNP (1)

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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
PubMedDOIMetascience Observatory

About BCO2

This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

View all BCO2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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