CASP3 gene single-nucleotide polymorphism (rs72689236) and Kawasaki disease in Taiwanese children
CASP3 gene single-nucleotide polymorphism (rs72689236) and Kawasaki disease in Taiwanese children
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DOI：
10.1038/jhg.2010.154
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发表时间：
2011-02-01
影响因子：
3.5
通讯作者：
Chang, Wei-Chiao
中科院分区：
文献类型：
--
作者：
Kuo, Ho-Chang;Yu, Hong-Ren;Chang, Wei-Chiao
川崎病（KD）的特点是病因不明的系统性血管炎。日本的一项研究报告称，位于半胱天冬酶 3 (CASP3) (rs72689236) 5'非翻译区的单核苷酸多态性 (SNP) 的 G 至 A 取代与激活 T 细胞介导的 T 细胞激活的核因子相关，是导致 KD 易感性的原因。本研究旨在探讨 CASP3 的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。使用 Invader 检测（Third Wave Technologies）对总共 1092 名受试者（341 名 KD 患者和 751 名对照）进行了研究，以鉴定 rs72689236 的 SNP。我们的数据提供了对照受试者和 KD 患者中 rs72689236 的基因型和等位基因频率之间的临界显着相关性（在显性模型下 P=0.0535；在等位基因模型下 P=0.0575）。 KD 患者以及 CAL 和静脉注射免疫球蛋白抵抗患者中 rs72689236 的 A 等位基因出现频率较高。重要的是，rs72689236 与动脉瘤形成的 KD 患者之间存在显着关联（P=0.009，在隐性模型下）。 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。人类遗传学杂志 (2011) 56, 161-165; doi：10.1038/jhg.2010.154； 2010 年 12 月 16 日在线发布
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. Journal of Human Genetics (2011) 56, 161-165; doi:10.1038/jhg.2010.154; published online 16 December 2010