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

doi:10.1371/journal.pone.0069685

A replication study for association of ITPKC and CASP3 two-locus analysis in IVIG unresponsiveness and coronary artery lesion in Kawasaki disease

PLoS One. 2013 Jul 24;8(7):e69685. doi: 10.1371/journal.pone.0069685. Print 2013.

Authors

Ho-Chang Kuo¹, 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

Affiliation

¹ Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Caspase 3 / genetics*
Child
Child, Preschool
Coronary Artery Disease / genetics
Coronary Artery Disease / metabolism*
Female
Genetic Predisposition to Disease / genetics
Humans
Immunoglobulins, Intravenous / therapeutic use*
Infant
Infant, Newborn
Male
Mucocutaneous Lymph Node Syndrome / drug therapy*
Mucocutaneous Lymph Node Syndrome / genetics
Mucocutaneous Lymph Node Syndrome / metabolism*
Phosphotransferases (Alcohol Group Acceptor) / genetics*
Polymorphism, Single Nucleotide / genetics

Substances

Immunoglobulins, Intravenous
Phosphotransferases (Alcohol Group Acceptor)
Inositol 1,4,5-trisphosphate 3-kinase
Caspase 3

Grants and funding

This work was supported by grants from the National Science Council, Taiwan (NSC101-2628-B038-001-MY2, NSC101-2320-B038-029-MY3 and NSC100-2314-B-182A-048-MY3). This work was also supported by a grant from Chang Gung Memorial Hospital, Taiwan (CMRPG8A0481). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.