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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: lpger@vghks.gov.tw
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
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