2011
DOI: 10.1038/aps.2011.93
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Genetic polymorphisms in Kawasaki disease

Abstract: Kawasaki disease (KD) is an acute febrile systemic vasculitis, and the cause of KD is not well understood. It is likely due to multiple interactions between genes and environmental factors. The development of genetic association and genome-wide association studies (GWAS) has opened an avenue to better understanding the molecular mechanisms underlying KD. A novel ITPKC signaling pathway was recently found to be responsible for the susceptibility to KD. Furthermore, the GWAS demonstrated the functionally related… Show more

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Cited by 46 publications
(35 citation statements)
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References 75 publications
(111 reference statements)
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“…It has been known that transforming growth factor-beta (TGF-b) is a candidate gene for KD pathogenesis because TGF-b-mediated T-cell activation and cardiovascular remodeling are considered as the most important characteristics of Kawasaki disease [22]. CASP3 is a key molecule of activation-induced cell death, and it has been reported to interactive with IP3 (inositol 1, 4, 5-triphosphosphate), which is a substrate for ITPKC (inositol 1, 4, 5-trisphosphate 3-kinase C) in T cells [23].…”
Section: Discussionmentioning
confidence: 99%
“…It has been known that transforming growth factor-beta (TGF-b) is a candidate gene for KD pathogenesis because TGF-b-mediated T-cell activation and cardiovascular remodeling are considered as the most important characteristics of Kawasaki disease [22]. CASP3 is a key molecule of activation-induced cell death, and it has been reported to interactive with IP3 (inositol 1, 4, 5-triphosphosphate), which is a substrate for ITPKC (inositol 1, 4, 5-trisphosphate 3-kinase C) in T cells [23].…”
Section: Discussionmentioning
confidence: 99%
“…Several lines of evidence have shown an imbalance between Th1 and Th2 immune reactions in KD patients. Th1 immune related responses (IFN-gamma, tumor necrosis factor-alpha, IL-1 β , and IL-10) [38, 39] and Th2 immune related responses (eosinophils, IL-4 [22], IL-5 [25, 26], eotaxin, and total IgE) have been reported to be associated with the susceptibility to KD and disease outcomes. Furthermore, serum IgE levels were shown to be increased in KD patients during the acute stage of the disease [34].…”
Section: Discussionmentioning
confidence: 99%
“…Genetics might play an important role in the pathogenesis of KD (26). Genome-wide association study for KD was firstly performed by Burgner et al (27).…”
Section: Discussionmentioning
confidence: 99%