Article type: Research Article
Authors: Hsieh, Kai-Sheng | Lai, Tsung-Jen; ; | Hwang, Yu-Tung; | Lin, Ming-Wei | Weng, Ken-Pen; | Chiu, Yi-Ten; | Ho, Tsyr-Yuh | Chen, Chi-Shan | Shiue, Yow-Ling | Hsiao, Michael | Tsai, Shih-Feng; | Ger, Luo-Ping;
Affiliations: Department of Pediatric Cardiology, Kaohsiung Veterans
General Hospital, Kaohsiung, Taiwan | Department of Medical Education and Research,
Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan | Institute of Biomedical Sciences, National Sun Yat-Sen
University, Kaohsiung, Taiwan | Institute of Clinical Medicine, National Yang-Ming
University, Taipei, Taiwan | Department of Cardiology, Fon-Lin Veterans Hospital,
Hualien, Taiwan | Institute of Public Health, National Yang-Ming
University, Taipei, Taiwan | Zuoying Armed Forces General Hospital, Kaohsiung,
Taiwan | Genomic Research Center, Academia Sinica, Taipei,
Taiwan | Division of Molecular and Genomic Medicine, National
Health Research Institutes, Miaoli, Taiwan | Department of Life Sciences and Institute of Genome
Sciences, National Yang-Ming University, Taipei, Taiwan
Note: [] Corresponding author: Professor Luo-Ping Ger, Department of
Medical Education and Research, Kaohsiung Veterans General Hospital, 386
Ta-Chung 1{st} Road, 813 Kaohsiung, Taiwan. Tel.: +886 7 3468356; Fax: +886 7
3468056; E-mail: [email protected]
Abstract: Kawasaki disease (KD) is the most common cause of pediatric acquired
heart disease. KD patients have spontaneously high plasma/serum levels of IL-10
during the acute phase. Therefore, two independent studies were carried out to
investigate the association between genetic variants in IL-10 promoter
(−1082, −819, and −592) and risk of KD. A total of 134 trios
were included for the family-based association study. A significantly
preferential transmission of the C allele at loci −819 T > C and
−592 A > C for KD cases was observed (P_{permutation}
= 0.029 and P_{permutation} = 0.034,
respectively). There was a significant increase in the transmission of
haplotype CC (p = 0.016) at the above two loci (OR, 1.632; 95% CI,
1.090–2.443; P_{permutation} = 0.019). We also carried
out a follow-up case-control study that included 146 KD cases and 315 unrelated
healthy children. {The haplotype CC (−819, −592) showed an
increased risk of KD (but statistically non-significant; OR, 1.332; 95% CI,
0.987–1.797; p = 0.061). In diplotype analysis, a trend was found between
number of CC haplotype and risk of KD (but non-significant, p =0.061). In
conclusion, CC genotype and CC/CC diplotype at IL-10-819T > C and
−592A > C were significantly associated with risk of KD in case-parent
trio study, which were replicated partially in our follow-up case-control
study.
Keywords: Kawasaki disease, risk, IL-10, single-nucleotide polymorphisms, case-parent trio study, and case-control study
DOI: 10.3233/DMA-2011-0765
Journal: Disease Markers, vol. 30, no. 1, pp. 51-59, 2011
Received 14 April 2011
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Accepted 14 April 2011
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Published: 2011
