A Replication Study for Association of ITPKC and CASP3 Two-Locus Analysis in IVIG Unresponsiveness and Coronary Artery Lesion in Kawasaki Disease

Ho-Chang Kuo, Yu-Wen Hsu, Chung-Min Wu, Shawn Hsiang-Yin Chen, Kuo Sheng Hung, Wei-Pin Chang, Kuender D. Yang, Kai-Sheng Hsieh, Wei-Chiao Chen, Yoshihiro Onouchi, Wei Chiao Chang

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21 Citations (Scopus)

Abstract

Single-nucleotide polymorphisms (SNPs) in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC, rs28493229) and caspase-3 (CASP3, rs113420705) are associated with susceptibility to KD in Japanese and Taiwanese populations. This study was conducted to investigate the involvement of these 2 SNPs in the risk for intravenous immunoglobulin (IVIG) resistance and coronary artery lesion (CAL) in Taiwanese population. A total of 340 KD patients were subjected to assess by the identification of 2-locus genes model. A combinatorial association between ITPKC (rs28493229) and CASP3 (rs113420705) was found in CAL formation (P = 0.0227, OR: 3.06). KD patients with high-risk genotype had a trend of overrepresentation in IVIG resistance compared with individual SNPs. Our findings suggest the existence of genetic factors affecting patients' risk for CAL formation and IVIG responsiveness in a Taiwanese population.

Original languageEnglish
Article numbere69685
JournalPLoS One
Volume8
Issue number7
DOIs
Publication statusPublished - Jul 24 2013

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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