Kawasaki disease (KD) is a medium vessel vasculitis that affects young children. Despite extensive research over the last 50 years, the etiology of KD remains an enigma. Seasonal change in wind patterns was shown to have correlation with the epidemics of KD in Japan. Occurrence of disease in epidemiological clusters, seasonal variation, and a very low risk of recurrence suggest that KD is triggered by an infectious agent. The identification of oligoclonal IgA response in the affected tissues suggests an antigen-driven inflammation. The recent identification of a viral antigen in the cytoplasm of bronchial ciliated epithelium also favors infection as the main trigger for KD. Pointers that suggest a genetic basis of KD include a high disease prevalence in North-East Asian populations, a high risk among siblings, and familial occurrence of cases. Dysregulated innate and adaptive immune responses are evident in the acute stages of KD. In addition to the coronary wall inflammation, endothelial dysfunction and impaired vascular remodeling contribute to the development of coronary artery abnormalities (CAAs) and thrombosis. Genetic aberrations in certain intracellular signaling pathways involving immune effector functions are found to be associated with increased susceptibility to KD and development of coronary artery abnormalities (CAAs). Several susceptible genes have been identified through genome-wide association studies (GWAS) and linkage studies (GWLS). The genes that are studied in KD can be classified under 4 major groups—enhanced T cell activation (ITPKC, ORAI1, STIM1), dysregulated B cell signaling (CD40, BLK, FCGR2A), decreased apoptosis (CASP3), and altered transforming growth factor beta signaling (TGFB2, TGFBR2, MMP, SMAD). The review aims to highlight the role of several genetic risk factors that are linked with the increased susceptibility to KD.

川崎病（KD）是一种会影响幼儿的中型血管炎。尽管在过去50年中进行了广泛的研究，但KD的病因仍是一个谜。研究表明，风型的季节性变化与日本KD的流行有关。流行病学集群中疾病的发生，季节性变化以及极低的复发风险表明，KD是由传染原触发的。在受影响的组织中对寡克隆IgA反应的鉴定表明是抗原驱动的炎症。支气管纤毛上皮细胞质中病毒抗原的最新鉴定也将感染作为KD的主要诱因。提示KD遗传基础的指标包括东北亚人群中的高疾病流行率，兄弟姐妹中的高风险和家族性病例的发生。在KD的急性期，先天和适应性免疫反应失调很明显。除冠状动脉壁发炎外，内皮功能障碍和受损的血管重塑也会导致冠状动脉异常（CAA）和血栓形成。已发现某些涉及免疫效应功能的细胞内信号通路中的遗传异常与对KD的敏感性增加和冠状动脉异常（CAA）的发展有关。通过全基因组关联研究（GWAS）和连锁研究（GWLS）已鉴定出几种易感基因。在KD中研究的基因可以分为4大类-增强T细胞活化（内皮功能障碍和血管重塑受损导致冠状动脉异常（CAA）和血栓形成的发展。已发现某些涉及免疫效应功能的细胞内信号通路中的遗传异常与对KD的敏感性增加和冠状动脉异常（CAA）的发展有关。通过全基因组关联研究（GWAS）和连锁研究（GWLS）已鉴定出几种易感基因。在KD中研究的基因可分为4大类-增强T细胞活化（内皮功能障碍和血管重塑受损导致冠状动脉异常（CAA）和血栓形成的发展。已发现某些涉及免疫效应功能的细胞内信号通路中的遗传异常与对KD的敏感性增加和冠状动脉异常（CAA）的发展有关。通过全基因组关联研究（GWAS）和连锁研究（GWLS）已鉴定出几种易感基因。在KD中研究的基因可分为4大类-增强T细胞活化（已发现某些涉及免疫效应功能的细胞内信号通路中的遗传异常与对KD的敏感性增加和冠状动脉异常（CAA）的发展有关。通过全基因组关联研究（GWAS）和连锁研究（GWLS）已鉴定出几种易感基因。在KD中研究的基因可分为4大类-增强T细胞活化（已发现某些涉及免疫效应功能的细胞内信号通路中的遗传异常与对KD的敏感性增加和冠状动脉异常（CAA）的发展有关。通过全基因组关联研究（GWAS）和连锁研究（GWLS）已鉴定出几种易感基因。在KD中研究的基因可以分为4大类-增强T细胞活化（ITPKC，ORAI1，STIM1），B细胞信号传导失调（CD40，BLK，FCGR2A），凋亡减少（CASP3）和转化生长因子β信号传导（TGFB2，TGFBR2，MMP，SMAD）改变。该综述旨在强调与KD易感性增加相关的几种遗传风险因素的作用。