ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
作者： Yoshihiro Onouchi , Tomohiko Gunji , Jane C Burns , Chisato Shimizu , Jane W Newburger
DOI: 10.1038/NG.2007.59
关键词: NFAT 、 Kawasaki disease 、 Pathogenesis 、 Autoimmune disease 、 Vasculitis 、 Biology 、 Immunology 、 Systemic vasculitis 、 Immunopathology 、 Coronary artery aneurysm
摘要: Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which genetic influence suspected. We identified functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that significantly associated with susceptibility and also an increased risk coronary artery lesions both Japanese US children. Transfection experiments showed allele itpkc_3 reduces splicing efficiency ITPKC mRNA. acts as negative regulator T-cell activation through Ca2+/NFAT signaling pathway, may contribute to immune hyper-reactivity disease. This finding provides new insights into mechanisms emphasizes importance activated T cells pathogenesis this vasculitis.
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