title: ITPKC single nucleotide polymorphism associated with the Kawasaki disease in a Taiwanese population.
abstract: Kawasaki disease (KD) is characterized by systemic vasculitis with unknown etiology. Previous studies from Japan indicated that a gene polymorphism of ITPKC (rs28493229) is responsible for susceptibility to KD. We collected DNA samples from 1,531 Taiwanese subjects (341 KD patients and 1,190 controls) for genotyping ITPKC. In this study, no significant association was noted for the ITPKC polymorphism (rs28493229) between the controls and KD patients, although the CC genotype was overrepresented. We further combined our data with previously published case/control KD studies in the Taiwanese population and performed a meta-analysis. A significant association between rs28493229 and KD was found (Odds Ratio:1.36, 95% Confidence Interval 1.12-1.66). Importantly, a significant association was obtained between rs28493229 and KD patients with aneurysm formation (P = 0.001, under the recessive model). Taken together, our results indicated that C-allele of ITPKC SNP rs28493229 is associated with the susceptibility and aneurysm formation in KD patients in a Taiwanese population.
authors.affiliation: Division of Allergy, Immunology and Rheumatology, Department of Pediatrics and Clinical Genomic & Proteomic Core laboratory, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Taiwan.
authors.forename: Ho-Chang
authors.initials: HC
authors.lastname: Kuo
authors.forename: Kuender D
authors.initials: KD
authors.lastname: Yang
authors.forename: Suh-Hang Hank
authors.initials: SH
authors.lastname: Juo
authors.forename: Chi-Di
authors.initials: CD
authors.lastname: Liang
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chen
authors.forename: Yu-Shiuan
authors.initials: YS
authors.lastname: Wang
authors.forename: Chih-Hung
authors.initials: CH
authors.lastname: Lee
authors.forename: Edward
authors.initials: E
authors.lastname: Hsi
authors.forename: Hong-Ren
authors.initials: HR
authors.lastname: Yu
authors.forename: Peng-Yeong
authors.initials: PY
authors.lastname: Woon
authors.forename: I-Chun
authors.initials: IC
authors.lastname: Lin
authors.forename: Chien-Fu
authors.initials: CF
authors.lastname: Huang
authors.forename: Daw-Yang
authors.initials: DY
authors.lastname: Hwang
authors.forename: Chiu-Ping
authors.initials: CP
authors.lastname: Lee
authors.forename: Li-Yan
authors.initials: LY
authors.lastname: Lin
authors.forename: Wei-Pin
authors.initials: WP
authors.lastname: Chang
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chang
mesh_terms: D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C051038:Inositol 1,4,5-trisphosphate 3-kinase