[The Chiba Medical Society Award (2014)] Identification of susceptibility genes for Kawasaki disease

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Kawasaki disease (KD) is a systemic vasculitis of unknown etiology that mainly affects infants and children. To unravel the genetic background of KD, we have been searching for relevant susceptibility genes. As the first step, we performed a genome-wide linkage study and identified 10 candidate chromosomal regions. In a subsequent case-control association study of single nucleotide polymorphisms (SNPs) mapped within the candidate regions, we identified functional SNPs of ITPKC and CASP3 that were significantly associated with KD. In a genome-wide association study of KD, we then identified the SNPs conferring KD susceptibility in the FAM167A-BLK, CD40, and HLA class II gene regions. We also confirmed the previously reported association of a functional SNP of FCGR2A. These findings have provided further insight into the pathogenesis of KD. In particular, by identifying a synergistic association of the susceptibility alleles of ITPKC and CASP3 which confer risks for intravenous immunoglobulin resistance and coronary artery lesion formation, our group highlighted the importance of Ca2+/NFAT pathway activation in KD pathogenesis. On this theoretical basis, we support the administration of cyclosporine, a drug that targets this pathway, in cases of refractory KD.

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