ArticleNature genetics2008
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
Article in Nature genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 239 papers, 11 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
239 citing papers in PubMed, 11 syntheses or guidelines pooled it, 518 citations in OpenAlex.
- A comprehensive integration of data on the association of ITPKC polymorphisms with susceptibility to Kawasaki disease: a meta-analysis.BMC medical genomics · 2025Pooled it
- Intravenous immunoglobulin for the treatment of Kawasaki disease.The Cochrane database of systematic reviews · 2023Pooled it
- Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease.Pediatric research · 2022Pooled it
- Neutrophil to Lymphocyte Ratio as a Biomarker for Predicting the Coronary Artery Abnormality in Kawasaki Disease: A Meta-Analysis.Disease markers · 2022Pooled it
- MicroRNAs in Kawasaki disease: An update on diagnosis, therapy and monitoring.Frontiers in immunology · 2022Pooled it
- Association of an IGHV3-66 gene variant with Kawasaki disease.Journal of human genetics · 2021Pooled it
- A Comprehensive Update on Kawasaki Disease Vasculitis and Myocarditis.Current rheumatology reports · 2020Pooled it
- TNF-α blockers for the treatment of Kawasaki disease in children.The Cochrane database of systematic reviews · 2019Pooled it
- The Roles of Genetic Factors in Kawasaki Disease: A Systematic Review and Meta-analysis of Genetic Association Studies.Pediatric cardiology · 2018Pooled it
- Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese.Human genetics · 2013Pooled it
- A functional polymorphism, rs28493229, in ITPKC and risk of Kawasaki disease: an integrated meta-analysis.Molecular biology reports · 2012Pooled it
- Rationale and study design for a phase I/IIa trial of anakinra in children with Kawasaki disease and early coronary artery abnormalities (the ANAKID trial).Contemporary clinical trials · 2016Trial
- Trial
- Immune-monitoring in Kawasaki disease patients treated with infliximab and intravenous immunoglobulin.Clinical and experimental immunology · 2013Trial
- Kawasaki Disease: Unraveling Immunopathogenesis, Genetic Factors, and AI Applications in Diagnosis with a Focus on Iran.Pediatric cardiology · 2026Review
- Identification and functional characterization of ASCC2 as a diagnostic biomarker and immune regulatory hub in Kawasaki disease.Clinical rheumatology · 2026Article
- The Autophagy-Inflammasome Axis as a Molecular Switch: From Persistent Inflammation to Vascular Remodeling in IVIG-Resistant Kawasaki Disease.International journal of molecular sciences · 2026Review
- Single Nucleotide Polymorphisms and Their Association with Coronary Artery Aneurysms and IVIG Resistance in Kawasaki Disease in Ireland.Pediatric cardiology · 2026Article
- Etiology Model of Kawasaki Disease and Multisystem Inflammatory Syndromes: Mast Cell Activation.Current issues in molecular biology · 2026Article
- Multiomics approaches in Kawasaki disease: insights into pathogenesis and emerging directions for diagnosis and treatment.Clinical and experimental pediatrics · 2026Article
179 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 20 institutions in 2 countries.
Funding
Abstract
Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also with an increased risk of coronary artery lesions in both Japanese and US children. Transfection experiments showed that the C allele of itpkc_3 reduces splicing efficiency of the ITPKC mRNA. ITPKC acts as a negative regulator of T-cell activation through the Ca2+/NFAT signaling pathway, and the C allele may contribute to immune hyper-reactivity in Kawasaki disease. This finding provides new insights into the mechanisms of immune activation in Kawasaki disease and emphasizes the importance of activated T cells in the pathogenesis of this vasculitis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.