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      ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.

      Nature genetics

      genetics, Chromosomes, Human, Pair 19, Coronary Aneurysm, Genetic Predisposition to Disease, Humans, Linkage Disequilibrium, Lymphocyte Activation, Mucocutaneous Lymph Node Syndrome, immunology, Phosphotransferases (Alcohol Group Acceptor), Polymorphism, Genetic, Polymorphism, Single Nucleotide, RNA Splicing, T-Lymphocytes, Asian Continental Ancestry Group

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          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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          Author and article information

          Journal
          18084290
          2876982
          10.1038/ng.2007.59

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