rs549908
This is a synonymous variant in the IL18 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Association of Variants in IL2RA With Progression of Joint Destruction in Rheumatoid ArthritisReviewKnevel R. et al.(2013)· Arthritis & Rheumatism
This systematic literature review examines interleukin and interleukin receptor gene polymorphisms associated with rheumatoid arthritis (RA) pathogenesis, diagnostics, and treatment. The paper summarizes polymorphisms in multiple IL genes (IL-1B rs16944, rs1143634; IL-6 rs1800795, rs1800796; IL-10 rs1800896; IL-23R rs11209026; IL-17A rs2275913 and others) across diverse populations, their associations with RA susceptibility and disease severity, and discusses current and future immunologic therapeutic targets including TNF inhibitors and IL-6 receptor antagonists.
▶Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritisReviewNina A. Daha et al.(2009)· Arthritis & Rheumatism
This systematic literature review examines interleukin (IL) and interleukin receptor gene polymorphisms associated with rheumatoid arthritis (RA), covering studies from the past 10 years. The review discusses the pathogenesis of RA as a multifactorial autoimmune disease where genetic factors account for approximately 60% of disease risk. Multiple polymorphisms across IL-1, IL-2, IL-4, IL-6, IL-8, IL-10, IL-15, IL-17, IL-18, and IL-23R genes have been investigated in various populations, with inconsistent results across populations. The paper also reviews current and future therapeutic targets including anti-TNF, anti-IL-1, anti-IL-6, and anti-IL-17 treatments.
▶Interleukin‐18 gene 105A/C genetic polymorphism is associated with the susceptibility of Kawasaki diseaseAssociationN=268Shih‐Yin Chen et al.(2009)· Journal of Clinical Laboratory Analysis
This case-control study examined the association between IL-18 gene 105A/C polymorphism (rs549908) and Kawasaki disease susceptibility in a Taiwanese population. The C allele was significantly enriched in KD patients (13.9%) compared to controls (2.7%, OR=5.93, 95% CI=2.57-13.73, P<0.0001). Haplotype analysis identified TACC as a risk haplotype (OR=4.62, P=0.001) and TAGA as a protective haplotype (OR=0.51, P=0.017), suggesting IL-18 genetic variants contribute to KD susceptibility.
▶IL-18 105 A>C polymorphism contributes to renal manifestations in patients with SLEAssociationN=263Teresa Warchoł et al.(2009)· Rheumatology International
This case-control study examined the IL-18 105 A>C polymorphism (rs549908) in 111 SLE patients and 152 controls. While no significant differences in genotype distribution were found between SLE patients and controls overall, the IL-18 105 AA genotype was significantly associated with renal manifestations in SLE patients (OR=3.360, 95% CI=1.523-7.415, P=0.0039, Pcorr=0.0351 after Bonferroni correction).
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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