rs1946518

This is a upstream gene variant variant in the IL18 gene.

Research that mentions this SNP (4)

Association of Variants in IL2RA With Progression of Joint Destruction in Rheumatoid Arthritis
ReviewKnevel 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.

Traits studied:ACPA (anti-citrullinated protein antibody) positivityDisease severityErosive joint damageRadiographic progressionRheumatoid arthritis
A common and functional gene variant in the vascular endothelial growth factor a predicts clinical outcome in early‐stage breast cancer
ReviewGudrun Absenger et al.(2013)· Molecular Carcinogenesis

This document is a comprehensive collection of ~1,200 cancer-related research abstracts and summaries published in various journals (2013), covering clinical trials, pharmacogenomic studies, and mutation analyses across multiple cancer types including colorectal, breast, lung, lymphoma, and other malignancies. The collection documents associations between genetic variants (SNPs and somatic mutations), gene expression patterns, and cancer treatment outcomes, including studies on KRAS, EGFR, TP53, BRAF, and pharmacogenomic variants like CYP3A4 and UGT1A1.

Traits studied:Acute myeloid leukemiaBladder cancerBreast cancerChemotherapy responseChronic lymphocytic leukemiaColorectal cancerDisease-free survivalEsophageal cancerFollicular lymphomaGallbladder cancerGlioblastomaHead and neck cancerLymphomaMyelodysplastic syndromesNon-small cell lung cancer (NSCLC)Overall survivalPrimary mediastinal B-cell lymphomaProgression-free survivalProstate cancerRenal cell carcinoma
Sipa1 promoter polymorphism predicts risk and metastasis of lung cancer in Chinese
ReviewChenli Xie et al.(2013)· Molecular Carcinogenesis

This is a comprehensive journal compilation containing multiple oncology and pharmacogenomics studies published in 2013 across various journals. The collection includes 60+ papers covering cancer treatment outcomes, genetic polymorphisms predicting chemotherapy response and survival, pharmacogenetic variants in drug metabolism and DNA repair genes, and prognostic biomarkers in various cancer types including breast, lung, colorectal, hematologic malignancies, and others. Key findings include associations of XRCC1 variants (rs915927, rs76507, rs2854501, rs2854509, rs3213255) with bladder cancer chemotherapy survival, ABCG2 rs2725264 with lung cancer overall survival (HR 3.22), SLCO1B1 rs4149056 with methotrexate pharmacokinetics, MTHFR rs1801131 with acute lymphoblastic leukemia outcome, and ABCC3/GSTM variants with acute myeloid leukemia survival.

Traits studied:Acute lymphoblastic leukemiaAcute myeloid leukemiaBladder cancerBreast cancerChronic lymphocytic leukemiaChronic myeloid leukemiaChronic myelomonocytic leukemiaColorectal cancerFollicular lymphomaGastric cancerGastrointestinal stromal tumorsGlioblastomaHepatocellular carcinomaHodgkin lymphomaLung cancerMultiple myelomaMyelodysplastic syndromesMyxofibrosarcomasNon-small cell lung cancerPrimary mediastinal B-cell lymphomaProstate cancer
Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis
ReviewNina 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.

Traits studied:Rheumatoid arthritis

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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