川崎病基因多态性的研究进展

Research advances in genetic polymorphisms in Kawasaki disease

摘要:

川崎病（Kawasaki disease, KD）是一种好发于儿童的全身性血管炎症疾病，是儿童后天性心脏病的主要原因。虽然该病病因尚不清楚，但通过全基因组关联和全基因组连锁研究发现，一些易感基因和染色体区域与KD的发生发展相关。随着高通量DNA测序技术的发展，越来越多与KD相关的基因组信息被发现。了解KD发病机制中涉及的基因可能为该病的诊断和治疗提供新思路。该文通过分析相关文献，总结研究进展，主要讨论目前已证实与KD发生发展密切相关的增强T细胞活化类基因，揭示其与KD发病及冠状动脉损伤的相关性。

Abstract:

Kawasaki disease (KD) is a systemic inflammatory vascular disorder that predominantly affects children and is the leading cause of acquired heart disease in children. Although the etiology of this disease remains unclear, genome-wide association and genome-wide linkage studies have shown that some susceptible genes and chromosomal regions are associated with the development and progression of KD. With the advancement of high-throughput DNA sequencing techniques, more and more genomic information related to KD is being discovered. Understanding the genes involved in the pathogenesis of KD may provide novel insights into the diagnosis and treatment of KD. By analyzing related articles and summarizing related research advances, this article mainly discusses the T cell activation-enhancing genes that have been confirmed to be closely associated with the development and progression of KD and reveals their association with the pathogenesis of KD and coronary artery lesions.