CASP3 gene single-nucleotide polymorphism (rs72689236) and Kawasaki disease in Taiwanese children

Ho-Chang Kuo, Hong-Ren Yu, Suh-Hang Hank Juo, Kuender D. Yang, Yu-Shiuan Wang, Chi-Di Liang, Wei-Chiao Chen, Wei Pin Chang, Chien-Fu Huang, Chiu-Ping Lee, Li-Yan Lin, Yu-Chen Liu, Yuh-Cherng Guo, Chien-Chih Chiu, Wei-Chiao Chang

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74 Citations (Scopus)


Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. A study from Japan reported that G to A substitution of a single-nucleotide polymorphism (SNP) located in the 5′-untranslated region of caspase 3 (CASP3) (rs72689236), which was associated with nuclear factor of activated T cell-mediated T-cell activation, is responsible for susceptibility to KD. This study was conducted to investigate whether the polymorphism of CASP3 is responsible for susceptibility and coronary artery lesion (CAL) formation in KD in the Taiwanese population. A total of 1092 subjects (341 KD patients and 751 controls) were investigated to identify an SNP of rs72689236 using Invader assays (Third Wave Technologies). Our data provided a borderline significant association between the genotypes and allele frequency of rs72689236 in control subjects and KD patients (P=0.0535 under the dominant model; P=0.0575 under the allelic model). The A allele of rs72689236 in KD patients and in patients with CAL and intravenous immunoglobulin resistance was seen in a higher frequency. Importantly, a significant association was obtained between rs72689236 and KD patients with aneurysm formation (P=0.009, under the recessive model). The A allele of rs72689236 is very likely to be a risk allele in the development of aneurysm in patients with KD.

Original languageEnglish
Pages (from-to)161-165
Number of pages5
JournalJournal of Human Genetics
Issue number2
Publication statusPublished - Feb 2011
Externally publishedYes


  • aneurysm
  • CASP3
  • coronary artery lesions
  • intravenous immunoglobulin
  • kawasaki disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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