Abstract
Background: Kawasaki disease is characterized by systemic vasculitis with unknown etiology. Previous studies from Japan indicated that gene ITPKC is responsible for susceptibility to KD; however, the replication studies in the Taiwanese population were still controversial.Subjects and Methods: ITPKC polymorphism was conducted on 1531 Taiwanese subjects (341 KD patients and 1190 controls). The genotypes of ITPKC were determined by TaqMan. Hardy-Weinberg equilibrium for cases and controls was checked and genetic effects were evaluated by the Chi-square (X2) test.Result: No significant association was noted between the genotypes and allele frequency of the ITPKC polymorphism (rs28493229) in the controls and KD patients. In KD patients with CAL formation, although the CC genotype of ITPKC gene SNP rs28493229 was overrepresented, it did not reach the significance. Additionally, rs28493229 had not association with intravenous immunoglobulin (IVIG) treatment response in KD patients. Importantly, a significant association was obtained between rs28493229 and KD patients with aneurysm formation (P = 0.001, under the recessive model).Conclusions: In this study, our results indicated that C-allele of ITPKC SNP rs28493229 is associated with aneurysm formation in KD patients in a Taiwanese population.
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