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*
  • *Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

41 Scopus citations

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
StatePublished - 24 07 2013

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