title: A replication study for association of ITPKC and CASP3 two-locus analysis in IVIG unresponsiveness and coronary artery lesion in Kawasaki disease.
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.
authors.affiliation: Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.
authors.forename: Ho-Chang
authors.initials: HC
authors.lastname: Kuo
authors.forename: Yu-Wen
authors.initials: YW
authors.lastname: Hsu
authors.forename: Chung-Min
authors.initials: CM
authors.lastname: Wu
authors.forename: Shawn Hsiang-Yin
authors.initials: SH
authors.lastname: Chen
authors.forename: Kuo-Sheng
authors.initials: KS
authors.lastname: Hung
authors.forename: Wei-Pin
authors.initials: WP
authors.lastname: Chang
authors.forename: Kuender D
authors.initials: KD
authors.lastname: Yang
authors.forename: Kai-Sheng
authors.initials: KS
authors.lastname: Hsieh
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chen
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Onouchi
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chang
mesh_terms: D053148:Caspase 3 / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003324:Coronary Artery Disease / Q000235:genetics / Q000378:metabolism*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D016756:Immunoglobulins, Intravenous; D017853:Phosphotransferases (Alcohol Group Acceptor); C051038:Inositol 1,4,5-trisphosphate 3-kinase; D053148:Caspase 3
references.citation: J Pediatr. 2002 Apr;140(4):450-5
references.pmid: 12006960
references.citation: J Hum Genet. 2011 Dec;56(12):840-5
references.pmid: 22011813
references.citation: Circulation. 2004 Oct 26;110(17):2747-71
references.pmid: 15505111
references.citation: J Clin Immunol. 2011 Aug;31(4):650-5
references.pmid: 21487896
references.citation: Pediatr Allergy Immunol. 2007 Jun;18(4):354-9
references.pmid: 17584314
references.citation: Arerugi. 1967 Mar;16(3):178-222
references.pmid: 6062087
references.citation: Am Heart J. 2009 Mar;157(3):584-8
references.pmid: 19249434
references.citation: Pediatr Infect Dis J. 2005 Nov;24(11):998-1004
references.pmid: 16282937
references.citation: PLoS One. 2011 Apr 14;6(4):e17370
references.pmid: 21533171
references.citation: J Hum Genet. 2011 Feb;56(2):161-5
references.pmid: 21160486
references.citation: Nat Genet. 2008 Jan;40(1):35-42
references.pmid: 18084290
references.citation: Pharmacogenomics J. 2013 Feb;13(1):52-9
references.pmid: 21987091
references.citation: Nat Genet. 2009 Sep;41(9):1011-5
references.pmid: 19701192
references.citation: Hum Mol Genet. 2010 Jul 15;19(14):2898-906
references.pmid: 20423928
references.citation: J Immunol. 2009 Oct 15;183(8):5158-62
references.pmid: 19794070
references.citation: Pediatrics. 2003 Feb;111(2):E140-7
references.pmid: 12563087
references.citation: J Microbiol Immunol Infect. 2007 Oct;40(5):395-400
references.pmid: 17932598
references.citation: Pediatr Infect Dis J. 2011 Feb;30(2):148-52
references.pmid: 20805785
references.citation: Pediatr Allergy Immunol. 2009 May;20(3):266-72
references.pmid: 19438983
references.citation: Pediatrics. 1974 Sep;54(3):271-6
references.pmid: 4153258
references.citation: Ann Allergy Asthma Immunol. 2004 Mar;92(3):350-5
references.pmid: 15049400
references.citation: PLoS Genet. 2009 Jan;5(1):e1000319
references.pmid: 19132087
references.citation: Acta Pharmacol Sin. 2011 Oct;32(10):1193-8
references.pmid: 21892198
references.citation: Circ Cardiovasc Genet. 2011 Feb;4(1):16-25
references.pmid: 21127203
references.citation: Pediatr Infect Dis J. 1998 Dec;17(12):1144-8
references.pmid: 9877364
references.citation: Lancet. 2004 Aug 7-13;364(9433):533-44
references.pmid: 15302199
references.citation: Nat Genet. 2011 Nov 13;43(12):1241-6
references.pmid: 22081228
references.citation: Pediatr Allergy Immunol. 2009 Nov;20(7):699-707
references.pmid: 19170925
references.citation: Pediatr Clin North Am. 1995 Oct;42(5):1205-22
references.pmid: 7567192
references.citation: Arthritis Rheum. 2009 Jan;60(1):251-7
references.pmid: 19116909
references.citation: J Pediatr. 2002 Oct;141(4):560-5
references.pmid: 12378198
references.citation: J Clin Immunol. 2011 Apr;31(2):240-4
references.pmid: 21082224
references.citation: Genes Dev. 1998 Mar 15;12(6):806-19
references.pmid: 9512515
references.citation: Hum Genet. 2011 May;129(5):487-95
references.pmid: 21221998
references.citation: N Engl J Med. 2007 Feb 15;356(7):663-75
references.pmid: 17301297
references.citation: J Pediatr. 2008 Jul;153(1):117-21
references.pmid: 18571548
references.citation: Acta Paediatr. 2010 Oct;99(10):1578-83
references.pmid: 20491705
references.citation: PLoS One. 2011 Feb 04;6(2):e16853
references.pmid: 21326860
references.citation: N Engl J Med. 1991 Jun 6;324(23):1633-9
references.pmid: 1709446
references.citation: Pediatrics. 2009 Mar;123(3):e401-5
references.pmid: 19237439
references.citation: Nat Genet. 2012 Mar 25;44(5):517-21
references.pmid: 22446962