TBX21、GATA3基因与囊性包虫病所致过敏性休克易感性分析  

Susceptibility analysis of TBX21 and GATA3 genes in anaphylactic shock caused by cystic echinococcosis

作　　者：戴庆[1] 马岩[1] 李杰[1] 于晓东[1] 叶建荣[1] DAI Qing;MA Yan;LI Jie;YU XiaoDong;YE JianRong(Department of Anaesthesiology,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China)

机构地区：[1]新疆医科大学第一附属医院麻醉科,乌鲁木齐830054

出　　处：《新疆医科大学学报》2020年第6期711-716,共6页Journal of Xinjiang Medical University

基　　金：新疆维吾尔自治区自然科学基金(2017D01C292)。

摘　　要：目的探讨T细胞转录因子TBX21、GATA3基因与囊性包虫病患者所致过敏性休克易感相关性。方法选取2015年1月-2017年12月于新疆医科大学第一附属医院就诊的30例囊性包虫病患者作为研究对象,将其中10例囊液外溢后出现过敏性休克的患者作为过敏性休克组(A组),20例囊液外溢但未发生过敏性休克的患者作为无过敏性休克组(N组)。另选取同期的健康体检者30例作为对照组(C组)。采集3组患者的外周血样本并抽提基因组DNA,设计并合成引物,通过Sequenom分型技术分别对样本DNA的不同SNP位点进行分型。通过实时荧光定量PCR(quantitative real-time PCR,qRT-PCR)检测3组样本TBX21、GATA3基因拷贝数及mRNA的表达水平,酶联免疫吸附实验(ELISA)法检测3组细胞因子白介素-2(interleukin-2,IL-2)和干扰素γ(interferon-γ,IFN-γ)的表达水平并比较异同。结果 SNP位点分型结果显示,TBX21、GATA3的25个SNP位点基因型与等位基因频率在3组间的差异无统计学意义(P>0.05)。A组中携带有高TBX21拷贝数(TBX21>2)的频率较C组低,差异具有统计学意义(P=0.001),高TBX21拷贝数(TBX21>2)与过敏性休克有关(OR=2.5,95%CI:1.3~5.9);N组患者中携带有低GATA3拷贝数(GATA3≤2)较C组低,差异具有统计学意义(P<0.05),GATA3低拷贝(GATA3≤2)与包虫病易感性相关。qRT-PCR检测结果显示,高TBX21拷贝数的个体有TBX21 mRNA的高表达,差异具有统计学意义(P<0.05)。ELISA检测结果显示,高TBX21拷贝数(TBX21>2)的个体与低TBX21拷贝数(TBX21≤2)的个体比较具有高表达的IL-2和IFN-γ水平(P<0.05)。结论 TBX21、GATA3基因拷贝数的变异与囊性包虫病所致过敏性休克病的发病风险显著相关。TBX21拷贝数变异影响可能是通过调控TBX21 mRNA表达以及影响IL-2和IFN-γ的产生来实现的。Objective To investigate the relationship between the inheritance of T cell transcription factor TBX21 and GATA3 gene and the genetic susceptibility to anaphylactic shock in patients with cystic echinococcosis.Methods A total of 30 patients with cystic echinococcosis diagnosed in the hospital from January 2015 to December 2017 were selected.10 patients with anaphylactic shock after cystic fluid overflow were considered as anaphylactic shock group(group A);another 20 patients with cystic fluid overflow but no anaphylactic shock were considered as non-anaphylactic shock group(group N).In addition,30 healthy medical examinees in the same period were selected as control group(C group).Peripheral blood samples from patients of the three groups were collected.The genomic DNAs were extracted from the peripheral blood samples.And the primers were designed and synthesized.Genotyping of SNPs was performed by the Sequenom method and restriction fragment length polymorphism(RFLP)technology.Quantitative real-time PCR(qRT-PCR)was used to detect the mRNA expression levels of TBX21 and GATA3 gene.The expression levels of IL-2 and IFN-γwere detected by ELISA.Results SNP genotyping results showed that the genotypes and allele frequencies of the 25 SNP loci of TBX21 and GATA3 were not statistically different between the group A,N and C(P>0.05).The frequency of high TBX21 copy number(TBX21>2)in the group A was lower than that in the group C(P=0.001,OR=2.5,95%CI:1.3-5.9),indicating that high TBX21 copy number(TBX21>2)is related to anaphylactic shock.The frequency of lower GATA3 copy number(GATA3<2)in the group N was lower than that in the group C(P=0.0001,OR=4.1,95%CI:1.7-10.1),indicating that low GATA3 copy number(GATA32<2)was associated with susceptibility to echinococcosis.The results of qRT-PCR showed that individuals with high TBX21 copy number had high expression of TBX21 mRNA(P<0.05).ELISA test results showed that individuals with high TBX21 copy number(TBX21>2)had higher levels of IL-2 and IFN-γthan individuals with TBX21�

关 键 词：TBX21 GATA3 过敏性休克 

分 类 号：R532.32[医药卫生—内科学]