Molecular Genetics of Kawasaki Disease
Molecular Genetics of Kawasaki Disease
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DOI：
10.1203/pdr.0b013e31819dba60
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发表时间：
2009-05-01
影响因子：
3.6
通讯作者：
Onouchi, Yoshihiro
中科院分区：
文献类型：
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作者：
Onouchi, Yoshihiro
川崎（Kawasaki disease，KD）是发达国家儿童获得性心脏病的主要病因。引发这种令人困惑的疾病的病原体在第一次描述后40年仍然未知。流行病学调查结果使我们相信，在病因学中有相当多的遗传成分，并且已经确定了一些候选的遗传变异，这些变异赋予KD的易感性或冠状动脉病变的风险。然而，其中大多数仍有待于通过大型队列的重复研究来明确证实。在这篇文章中，我回顾了迄今为止的候选基因关联研究。本文还介绍了我们最近在全基因组研究中的发现，即Ca ~（2+）/活化T细胞核因子通路在KD发病机制中的重要性。（Pediatr Res 65：46 R-54 R，2009）
Kawasaki disease (KD) is a leading cause of acquired cardiac disease of children in the developed countries. The pathogen that triggers this perplexing disease is still unknown after 40 y from the first description. Epidemiologic findings have made us believe that there are considerable genetic components in the etiology and some candidate genetic variations, which confer susceptibility to KD or risk for coronary artery lesions have been identified. However, most of them remain to be definitively confirmed by replication studies with large cohorts. In this article, I review the candidate gene association studies to date. I also introduce our recent findings in genome-wide approach, which revealed the importance of Ca2+/nuclear factor of activated T-cells pathway in the pathogenesis of KD. (Pediatr Res 65: 46R-54R, 2009)