rs360717
This is a regulatory region variant variant in the IL18 gene.
▶Research that mentions this SNP (1)
▶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.
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.
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