ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children

• Published in: Human molecular genetics 2010-03, Vol.19 (6), p.1147-1151
• Main Authors: Chi, Hsin, Huang, Fu-Yuan, Chen, Ming-Ren, Chiu, Nan-Chang, Lee, Hung-Chang, Lin, Shuan-Pei, Chen, Wei-Fang, Lin, Chong-Ling, Chan, Hui-Wen, Liu, Hsin-Fu, Huang, Li-Min, Lee, Yann-Jinn
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Case-Control Studies; Child; Child, Preschool; Coronary Vessels - pathology; Family; Female; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Humans; Infant; Linkage Disequilibrium - genetics; Male; Medical sciences; Molecular and cellular biology; Mucocutaneous Lymph Node Syndrome - enzymology; Mucocutaneous Lymph Node Syndrome - genetics; Phosphotransferases (Alcohol Group Acceptor) - genetics; Polymorphism, Single Nucleotide - genetics; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Taiwan
• ISSN: 0964-6906; 1460-2083
• DOI: 10.1093/hmg/ddp586

Kawasaki disease (KD) is a systemic vasculitis caused by unknown infectious agents, host immune dysregulation and genetic susceptibility in children. Coronary artery lesions (CALs) complicate 15–25% of cases of untreated KD. The aim of this study was to investigate if the single-nucleotide polymorphism (SNP) rs28493229 of the ITPKC gene is associated with susceptibility to KD or with CALs in Taiwanese children. A total of 385 unrelated Taiwanese children (222 boys and 163 girls) with KD were included, 140 of whom had CALs. Mean age at diagnosis was 1.9 ± 1.7 (0.1–10.2) years. Rs28493229 was genotyped in children with KD and 1158 ethnically matched healthy controls using the TaqMan Allelic Discrimination Assay. In 184 families with KD, both biological parents were available, constituting 184 trios with their children. They were assessed in a family-based study by means of a transmission/disequilibrium test (TDT). No significant differences in genotype (P = 0.29 and P = 0.29, respectively), allele (P = 0.14 and P = 0.22, respectively) and carrier (P = 0.22 and P = 0.25, respectively) frequencies of the SNP were found between healthy controls and children with KD or those with CALs. TDT in the 184 family trios and in 69 trios where the child had CALs did not reveal significant overtransmittion of the C allele. In conclusion, we did not find a statistically significant association between the ITPKC gene SNP rs28493229 and KD or CALs in Taiwanese children.