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基因rs1751034 C等位基因纯合与川崎病静脉注射免疫球蛋白抵抗风险增加有关。

Homozygous of Gene rs1751034 C Allele Is Related to Increased Risk of Intravenous Immunoglobulin Resistance in Kawasaki Disease.

作者信息

Wang Yanfei, Xu Yufen, Huang Ping, Che Di, Wang Zhouping, Huang Xijing, Xie Xiaofei, Li Wei, Zhang Li, Gu Xiaoqiong

机构信息

Department of Pediatric Cardiology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Department of Blood Transfusion and Clinical Biological Resource Bank, Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

出版信息

Front Genet. 2021 Mar 15;12:510350. doi: 10.3389/fgene.2021.510350. eCollection 2021.

Abstract

Kawasaki disease (KD) is a systemic vasculitis in childhood, which mainly causes damage to coronary arteries, and intravenous immunoglobulin (IVIG) is the initial therapy. IVIG resistance increased risk of coronary complication in KD. And genetic background is involved in the occurrence of IVIG resistance. Our previous study indicated the susceptibility of SNPs to KD. This study was to clarify the relationship between polymorphisms and IVIG resistance. We genotyped the six polymorphisms of gene in 760 cases of KD using Taqman methods. Among the six polymorphisms, only the rs1751034 polymorphism was significantly associated with IVIG resistance in KD [CC vs. TT: adjusted odds ratio (OR) = 2.54, 95% confidence interval (CI) = 1.21-5.34; CC vs. TT/TC: adjusted OR = 2.33, 95% CI = 1.12-4.83, = 0.023]. Combined analysis of three polymorphisms indicated that patients with 3-6 risk genotypes exhibited significantly elevated risk of IVIG resistance, when compared with those with 0-2 risk genotypes (adjusted OR = 1.52, 95% CI = 1.04-2.22, = 0.0295). Stratified analysis revealed that in term of age and gender, rs1751034 CC carriers were associated with increased risk of IVIG resistance in those aged ≤ 60 months (adjusted OR = 2.65, 95% CI = 1.23-5.71, = 0.0133). The presence of three or more risk genotypes was significantly associated with risk of IVIG resistance in children younger than 5 years of age and males. Our results suggest that rs1751034 CC is associated with increased risk of IVIG resistance in KD.

摘要

川崎病(KD)是一种儿童期全身性血管炎,主要导致冠状动脉损害,静脉注射免疫球蛋白(IVIG)是初始治疗方法。IVIG抵抗会增加KD发生冠状动脉并发症的风险。而且遗传背景与IVIG抵抗的发生有关。我们之前的研究表明单核苷酸多态性(SNPs)对KD具有易感性。本研究旨在阐明基因多态性与IVIG抵抗之间的关系。我们采用Taqman方法对760例KD患者的该基因的六个多态性进行基因分型。在这六个多态性中,只有rs1751034多态性与KD中的IVIG抵抗显著相关[CC与TT比较:校正比值比(OR)=2.54,95%置信区间(CI)=1.21 - 5.34;CC与TT/TC比较:校正OR = 2.33,95%CI = 1.12 - 4.83,P = 0.023]。对三个多态性的联合分析表明,与具有0 - 2个风险基因型的患者相比,具有3 - 6个风险基因型的患者表现出IVIG抵抗风险显著升高(校正OR = 1.52,95%CI = 1.04 - 2.22,P = 0.0295)。分层分析显示,就年龄和性别而言,rs1751034 CC携带者在年龄≤60个月的人群中与IVIG抵抗风险增加相关(校正OR = 2.65,95%CI = 1.23 - 5.71,P = 0.0133)。存在三个或更多风险基因型与5岁以下儿童和男性的IVIG抵抗风险显著相关。我们的结果表明,rs1751034 CC与KD中IVIG抵抗风险增加相关。

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A new model to predict intravenous immunoglobin-resistant Kawasaki disease.一种预测静脉注射免疫球蛋白抵抗性川崎病的新模型。
Oncotarget. 2017 Sep 19;8(46):80722-80729. doi: 10.18632/oncotarget.21083. eCollection 2017 Oct 6.

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