Itpkc single nucleotide polymorphism associated with the kawasaki disease in a taiwanese population

Ho Chang Kuo, Kuender D. Yang, Suh Hang Hank Juo, Chi Di Liang, Wei Chiao Chen, Yu Shiuan Wang, Chih Hung Lee, Edward Hsi, Hong Ren Yu, Peng Yeong Woon, I. Chun Lin, Chien Fu Huang, Daw Yang Hwang, Chiu Ping Lee, Li Yan Lin, Wei Pin Chang*, Wei Chiao Chang

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

81 Scopus citations

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.

Original languageEnglish
Article numbere17370
JournalPLoS ONE
Volume6
Issue number4
DOIs
StatePublished - 2011

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