Research articles
ScienceAsia (): 125-129 |doi:
10.2306/scienceasia1513-1874...125
Haplotype of BAK1 (BCL2 antagonist killer 1) polymorphisms associated with the risk of developing Kawasaki disease in Taiwanese children
Yu-Chuen Huanga,b, Ying-Ju Lina,b, Jeng Sheng Changc, Shih-Yin Chena,b, Lei Wana,b,d, Jim Jinn-Chyuan Sheua,b,d, Chih-Ho Laie, Cheng-Wen Linf, Shih-Ping Liug, Fuu-Jen Tsaia,d,h,*
ABSTRACT: Kawasaki disease (KD) is a pediatric systemic vasculitis of unknown etiology for which a genetic influence has been suggested. BCL2 antagonist killer 1 (BAK1) has been considered to play a critical role in the development of autoimmune disease. The aim of this study was to examine the association of BAK1 polymorphisms with KD risk in Taiwanese children. Five single nucleotide polymorphisms (SNPs)–-rs210132, rs210135, rs210139, rs210145 and rs396746–-in the BAK1 gene were analysed in a case-control study comprising 93 KD patients and 680 gender- and age-matched healthy controls. The results showed that the frequencies of the SNP rs210132 TT genotypes were significantly higher in KD patients without coronary artery aneurysm than in control subjects (OR, 1.93 [95% CI: 1.08–3.46]; p=0.037). The estimated frequency of the GAGC haplotype (rs210132-rs210139-rs210145-rs396746) was significantly lower in KD patients than in controls (OR, 0.60 [95% CI: 0.36–1.00]; p=0.047). In addition, the frequency of the TAGC haplotype (rs210132-rs210139-rs210145-rs396746) was significantly higher in KD patients than in control subjects (OR, 9.97 [95% CI: 3.72–26.7]; p<0.0001). In conclusion, the results suggest that the BAK1 gene polymorphisms are associated with the risk of KD in the Taiwanese population.
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| a |
Genetics Centre, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan |
| b |
Graduate Institute of Chinese Medical Science, College of Chinese Medicine, China Medical University, Taichung, Taiwan |
| c |
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan |
| d |
Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan |
| e |
Department of Microbiology, School of Medicine, China Medical University, Taichung, Taiwan |
| f |
Department of Medical Laboratory Science and Biotechnology, China Medical University, Taichung, Taiwan |
| g |
Center for Neuropsychiatry, China Medical University Hospital, Taichung, Taiwan |
| h |
Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan |
* Corresponding author, E-mail: d0704@mail.cmuh.org.tw
Received 18 Dec 2009, Accepted 11 Mar 2010
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