Division of Allergy, Immunology and Rheumatology, Department of Pedatrics, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
J Hum Genet. 2011 Dec;56(12):840-5. doi: 10.1038/jhg.2011.113. Epub 2011 Oct 20.
Kawasaki disease (KD) is a systemic vasculitis associated with cardiovascular symptom. A previous study in the European descent has indicated that genetic variants of the transforming growth factor-β (TGF-β) pathway are involved in the KD susceptibility and clinical status. This study was conducted to investigate if polymorphisms in TGF-β signaling pathway are associated with KD susceptibility, and the coronary artery lesion formation. A total of 950 subjects (381 KD patients and 569 controls) were investigated to identify 12 single-nucleotide polymorphisms in the TGF-β signaling pathway (rs2796817, rs10482751, rs2027567, rs12029576, rs11466480, rs4776338, rs12901071, rs7162912, rs1438386, rs6494633, rs12910698 and rs4776339) by using TaqMan Allelic Discrimination assay. Our results indicated that rs1438386 in the SMAD3 is significantly associated with the susceptibility of KD. Additionally, both haplotypes of TGFβ2 and SMAD3 were also associated with the risk of KD. This study showed that genetic polymorphisms in TGF-β signaling pathway are associated with KD susceptibility, but not coronary artery lesions formation, or intravenous immunoglobulin treatment response in the Taiwanese population.
川崎病（KD）是一种与心血管症状相关的系统性血管炎。先前在欧洲血统人群中的研究表明，转化生长因子-β（TGF-β）途径的遗传变异与 KD 的易感性和临床状况有关。本研究旨在探讨 TGF-β信号通路中的多态性是否与 KD 的易感性和冠状动脉病变形成有关。共调查了 950 名受试者（381 名 KD 患者和 569 名对照），以鉴定 TGF-β信号通路中的 12 个单核苷酸多态性（rs2796817、rs10482751、rs2027567、rs12029576、rs11466480、rs4776338、rs12901071、rs7162912、rs1438386、rs6494633、rs12910698 和 rs4776339），方法是使用 TaqMan 等位基因鉴别分析。我们的结果表明，SMAD3 中的 rs1438386 与 KD 的易感性显著相关。此外，TGFβ2 和 SMAD3 的两种单体型也与 KD 的风险相关。本研究表明，TGF-β信号通路中的遗传多态性与台湾人群 KD 的易感性有关，但与冠状动脉病变形成或静脉注射免疫球蛋白治疗反应无关。
