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[川崎病的易感基因]

[Susceptibility genes for Kawasaki disease].

作者信息

Onouchi Yoshihiro

出版信息

Nihon Rinsho. 2014 Sep;72(9):1554-60.

PMID:25518402
Abstract

More than 45 years have passed since Kawasaki disease(KD) was firstly described. Although the infectious agent possibly triggering the disease has not been identified, a total of 6 susceptibility genes/loci for KD have been identified through genome-wide studies. Although association of these loci are robust and has been confirmed in multiple populations, these can explain only a part of genetic background of the disease. Further investigation of genetic factors including unidentified common and rare variants as well as personal mutations contributing to individuals' susceptibility to the disease and risk for severer manifestation should be warranted and multicenter collaboration of collecting patients' subjects and information is essential for current and future genetic study of KD.

摘要

自川崎病(KD)首次被描述以来,已经过去了45年多。尽管可能引发该病的传染因子尚未确定,但通过全基因组研究已经总共确定了6个KD的易感基因/位点。尽管这些位点的关联性很强且已在多个群体中得到证实,但它们只能解释该疾病遗传背景的一部分。对包括未确定的常见和罕见变异以及导致个体对该病易感性和严重表现风险的个人突变在内的遗传因素进行进一步研究是必要的,并且收集患者样本和信息的多中心合作对于当前和未来的KD遗传研究至关重要。

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