Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Chang-Gung Memorial Hospital-Kaohsiung Medical Center, Kaohsiung, Taiwan.
J Hum Genet. 2011 Feb;56(2):161-5. doi: 10.1038/jhg.2010.154. Epub 2010 Dec 16.
Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. A study from Japan reported that G to A substitution of a single-nucleotide polymorphism (SNP) located in the 5'-untranslated region of caspase 3 (CASP3) (rs72689236), which was associated with nuclear factor of activated T cell-mediated T-cell activation, is responsible for susceptibility to KD. This study was conducted to investigate whether the polymorphism of CASP3 is responsible for susceptibility and coronary artery lesion (CAL) formation in KD in the Taiwanese population. A total of 1092 subjects (341 KD patients and 751 controls) were investigated to identify an SNP of rs72689236 using Invader assays (Third Wave Technologies). Our data provided a borderline significant association between the genotypes and allele frequency of rs72689236 in control subjects and KD patients (P=0.0535 under the dominant model; P=0.0575 under the allelic model). The A allele of rs72689236 in KD patients and in patients with CAL and intravenous immunoglobulin resistance was seen in a higher frequency. Importantly, a significant association was obtained between rs72689236 and KD patients with aneurysm formation (P=0.009, under the recessive model). The A allele of rs72689236 is very likely to be a risk allele in the development of aneurysm in patients with KD.
川崎病（KD）的特征为病因不明的全身性血管炎。一项来自日本的研究报告称，位于半胱氨酸天冬氨酸蛋白酶 3（CASP3）5'非翻译区的单核苷酸多态性（SNP）G 到 A 取代（rs72689236）与激活的 T 细胞核因子介导的 T 细胞激活有关，与 KD 的易感性相关。本研究旨在探讨 CASP3 多态性是否与台湾人群 KD 的易感性和冠状动脉病变（CAL）形成有关。通过 Invader 分析（Third Wave Technologies），共对 1092 名受试者（341 名 KD 患者和 751 名对照者）进行了 rs72689236 的 SNP 鉴定。我们的数据提供了 rs72689236 的基因型和等位基因频率在对照组和 KD 患者之间的边缘显著关联（显性模型下 P=0.0535；等位基因模型下 P=0.0575）。KD 患者、CAL 患者和静脉注射免疫球蛋白抵抗患者的 rs72689236 的 A 等位基因出现的频率更高。重要的是，我们还发现 rs72689236 与形成动脉瘤的 KD 患者之间存在显著关联（隐性模型下 P=0.009）。rs72689236 的 A 等位基因很可能是 KD 患者发生动脉瘤的风险等位基因。
