川崎病丙种球蛋白无反应型易感基因研究

doi:10.3969/j.issn.1000-3606.2019.10.001

临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (10): 721-.doi: 10.3969/j.issn.1000-3606.2019.10.001

• 免疫系统专栏 • 下一篇

川崎病丙种球蛋白无反应型易感基因研究

陈丽琴 1，　宋思瑞 1，　张晗 1，　宁倩倩 2，　谢利剑 1，　贾佳 2，　肖婷婷 1，　黄敏 1

1.上海交通大学附属儿童医院　上海市儿童医院心内科（上海　200062）；2.上海生物信息技术研究中心（上海　201203）

发布日期:2020-01-22
通讯作者: 黄敏　电子信箱：huangmin@sjtu. edu. cn
基金资助:
上海申康医院发展中心临床科技创新项目（SHDC12016119）；上海市国际科技合作基金项目（No.15410722900）；上海市科学技术委员会科研计划项目（No.17411954300）；上海交通大学医工交叉青年项目（YG2016QN41）

Identification of mutations associated with intravenous immunoglobulin resistance in Kawasaki disease

CHEN Liqin1, SONG Sirui1, ZHANG Han1, NING Qianqian2, XIE Lijian1, JIA Jia2, XIAO Tingting1, HUANG Min1

1.Department of Cardiology, Shanghai Children’s Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200062, China; 2.Shanghai Center for Bioinformation Technology, Shanghai 201203, China

Published:2020-01-22

摘要/Abstract

摘要： 目的　应用靶向测序技术探索川崎病（KD）丙种球蛋白无反应易感基因，筛选KD高危人群。方法　选择 2016年12月至2018年10月收治的190例KD患儿，其中静脉注射丙种球蛋白（IVIG）无反应33例、敏感151例，以及99例健康儿童。采集外周静脉血全基因组DNA，采用靶向捕获测序技术，分析比较基因差异位点。结果　KD患儿和健康儿童之间FCGR3A（rs77144485）、IL15RA（rs2228059）、IL-6（rs13306435）基因型的差异均有统计学意义（P<0.05）。IVIG无反应和敏感KD患儿之间，在位于IL-2RB、IL-24、BMPR1A、GZMB、KDR、KIR2DS4、CARD11、CHUK等基因区域的10个单核苷酸多态性位点的基因型频率差异有统计学意义（P均<0.05）。结论　靶向捕获测序技术初步筛选出IL-2RB、IL-24、 BMPR1A、GZMB、KDR、KIR2DS4、CARD11、CHUK等KD 丙种球蛋白无反应型易感基因。

关键词: 　川崎病；　静脉滴注丙种球蛋白无反应；　基因

Abstract: 　Objective　To identify genes associated with intravenous immunoglobulin (IVIG) resistance in Kawasaki disease (KD) through targeted enrichment technology, and to screen the high-risk population of KD. Method A total of 190 KD patients (33 IVIG non-responders and 151 IVIG responders) admitted from December 2016 to October 2018 and 99 healthy check-up children were selected. The genomic DNA of peripheral venous blood from the patients was collected, and the gene differences between the two groups were analyzed and compared by targeting capture and sequencing technology. Result There were significant differences in genotypes of FCGR3A (rs77144485), IL15RA (rs2228059) and IL6 (rs13306435) between KD children and healthy children (all P<0.05). There were significant differences in genotype frequencies of 10 single nucleotide polymorphisms (SNPs) loci in IL-2RB, IL-24, BMPR1A, GZMB, KDR, KIR2DS4, CARD11 and CHUK between IVIG resistant group and IVIG responsive group (all P<0.05). Conclusion　IL-2RB, IL-24, BMPR1A, GZMB, KDR, KIR2DS4, CARD11, CHUK were found to be significantly different in IVIG resistant group and IVIG responsive group by targeted enrichment technology.

Key words: Kawasaki disease;　intravenous immunoglobulin resistance;　gene

陈丽琴，宋思瑞，张晗，等. 川崎病丙种球蛋白无反应型易感基因研究[J]. 临床儿科杂志, 2019, 37(10): 721-.

CHEN Liqin, SONG Sirui, ZHANG Han, et al. Identification of mutations associated with intravenous immunoglobulin resistance in Kawasaki disease[J]. Journal of Clinical Pediatrics, 2019, 37(10): 721-.

川崎病丙种球蛋白无反应型易感基因研究

Identification of mutations associated with intravenous immunoglobulin resistance in Kawasaki disease

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