The Ph.D. Program for Translational Medicine, College of Medical Science and Technology, Taipei Medical University and Academia Sinica, Taipei, Taiwan.
Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei, Taiwan.
Pediatr Allergy Immunol. 2021 Feb;32(2):363-370. doi: 10.1111/pai.13381. Epub 2020 Nov 6.
Kawasaki disease (KD) is an acute systemic vasculitis syndrome with unknown pathogen. The immune system has been suggested to involve in the pathogenesis in KD. IP10 is a chemoattractant for initiating T-cell activation. The aim of this study was to investigate the association between genetic polymorphisms of IP10 and KD.
A total of 354 KD patients and 1,709 control subjects (709 subjects in cohort 1 and 1,000 subjects in cohort 2) were enrolled in this study. Four tagging single nucleotide polymorphisms (rs3921, rs4256246, rs4508917, and rs4386624) were chosen for genotyping.
Our results indicated that CC genotype of rs3921 and GG genotype of rs4386624 had higher frequency in KD patients compared to control. In addition, higher plasma IP10 level was observed in CC genotype of rs3921 than CG genotype and GG genotype. C/G haplotype carriers of rs3921/rs4386624 had 5.48-fold risk for KD compared to G/C haplotype carriers. Two-locus analysis further showed the combinatorial effects of rs3921 and rs4386624 in KD susceptibility.
This study indicated the close correlation between IP10 and the risk of Kawasaki disease.
川崎病（KD）是一种病因不明的急性全身性脉管炎综合征。免疫系统被认为与 KD 的发病机制有关。IP10 是一种起始 T 细胞激活的趋化因子。本研究旨在探讨 IP10 的遗传多态性与 KD 之间的关系。
本研究共纳入 354 例 KD 患者和 1709 例对照（队列 1 709 例，队列 2 1000 例）。选择了四个标记单核苷酸多态性（rs3921、rs4256246、rs4508917 和 rs4386624）进行基因分型。
我们的结果表明，与对照组相比，KD 患者 rs3921 的 CC 基因型和 rs4386624 的 GG 基因型频率更高。此外，与 CG 基因型和 GG 基因型相比，rs3921 的 CC 基因型患者的血浆 IP10 水平更高。与 G/C 单倍型携带者相比，rs3921/rs4386624 的 C/G 单倍型携带者患 KD 的风险增加了 5.48 倍。两基因座分析进一步显示 rs3921 和 rs4386624 联合在 KD 易感性中的协同作用。
本研究表明 IP10 与川崎病的发病风险密切相关。
