rs5744256
This is a intron variant variant in the IL18 gene.
▶Research that mentions this SNP (2)
▶Genetic association analyses of atopic illness and proinflammatory cytokine genes with type 1 diabetesAssociationN=10,320Nada M. Saleh et al.(2011)· Diabetes/Metabolism Research and Reviews
This candidate gene association study examined genetic variants in atopic disease and proinflammatory cytokine genes for association with type 1 diabetes in 6,743-10,320 cases and 7,864-9,354 controls. The FLG R501X/rs61816761 (p=0.82), SELS -105/rs28665122 (p=0.08), and IL18 SNPs showed no association with T1D. However, four loci previously associated with asthma also showed significant association with T1D: HLA, GSDMB/ORMDL3/GSDMA (rs2305480, rs3894194, p≤1.2×10⁻⁶), and IL2RB (rs2284033, p=0.005), suggesting shared genetic susceptibility between atopic and autoimmune diseases.
▶Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetesAssociationN=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.
About IL18
The protein encoded by this gene is a proinflammatory cytokine of the IL-1 family that is constitutively found as a precursor within the cytoplasm of a variety of cells including macrophages and keratinocytes. The inactive IL-18 precursor is processed to its active form by caspase-1, and is capable of stimulating interferon gamma production, and of regulating both T helper (Th) 1 and Th2 responses. This cytokine has been implicated in the injury of different organs, and in potentially fatal conditions characterized by a cytokine storm. In humans, IL-18 gene is located on chromosome 11. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2020]
View all IL18 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…