基于微小RNA测序技术的儿童扩张型心肌病的诊断学研究  

Diagnosis of dilated cardiomyopathy in children based on microRNA sequencing technology

作　　者：焦萌[1] 尤宏钊 王志远[1] 顾燕[1] 王霄芳[1] 梁永梅[1] 肖燕燕[1] 金梅[1] Jiao Meng;You Hongzhao;Wang Zhiyuan;Gu Yan;Wang Xiaofang;Liang Yongmei;Xiao Yanyan;Jin Mei(Department of Pediatric Cardiology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;Department of Internal Medicine,Fuwai Hospital,Chinese Academy of Medical Sciences,Beijing 100037,China;Department of Internal Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]首都医科大学附属北京安贞医院小儿心脏科,北京100029 [2]中国医学科学院阜外医院内科,北京100037 [3]中国医学科学院北京协和医院内科,北京100730

出　　处：《中华实用儿科临床杂志》2020年第13期982-987,共6页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的研究血清中微小核糖核酸(miRNA)的特异性表达与儿童扩张型心肌病(DCM)发生的相关性。方法收集2013年11月至2016年3月就诊于北京安贞医院小儿心脏中心且被确诊为DCM的儿童血清(DCM组,16例)及同期于北京安贞医院体检的年龄性别匹配的健康儿童血清(健康对照组,12例),并进行miRNA测序。后期扩大样本量(DCM组扩大为30例,对照组扩大为16例),对测序结果中有统计学意义的11种miRNAs行实时荧光定量聚合酶链式反应(qRT-PCR)验证。结果血清miRNA测序结果,DCM组患儿较健康对照组儿童有172个miRNAs上调(fold change>2,P<0.001),未发现下调的miRNAs。选择显著上调的top11miRNAs进行qRT-PCR试验验证,发现DCM组患儿血清中8个miRNAs(let-7f、let-7g、miR142-5p、miR143-3p、miR26a、miR27a-3p、miR27b-3p、miR126-3p)显著上调,差异均有统计学意义(均P<0.05)。在诊断DCM的受试者工作特征(ROC)曲线中,血清miR142-5p、miR143-3p、miR27b-3p、miR126-3p的曲线下面积分别为0.983、0.992、0.915、0.950,差异均有统计学意义(均P<0.05)。结论本研究发现4个血清miRNAs(miR-142-5p、miR-126-3p、miR-143-3p和miR-27b-3p)可用来区分DCM患儿和健康儿童。循环miRNAs可作为有效的儿童DCM筛查工具。Objective To investigate the correlation between specific expression of serum micro ribonucleic acid(miRNA)and dilated cardiomyopathy(DCM)in children.Methods Sixteen children diagnosed with DCM in Pediatric Heart Center of Beijing Anzhen Hospital from November 2013 to March 2016 were enrolled in the DCM group.Meanwhile,12 age-and gender-matched healthy children who underwent medical examinations at the same time in the same hospital were selected as the healthy control group.Their serum was collected and miRNA sequencing was performed.The sample size was expanded at the later stage(the DCM group included 30 cases,and the healthy control group included 16 cases).The real-time fluorescence quantitative polymerase chain reaction(qRT-PCR)verification experiment was conducted on 11 miRNAs with statistically significant sequencing results.Results Serum miRNA sequencing showed that 172 miRNAs were up-regulated but no miRNAs were down-regulated in the DCM group,compared with the healthy control group(fold change>2,P<0.001).Top 11 significantly up-regulated miRNAs were verified by qRT-PCR,and it was found that 8 of the 11 miRNAs(let-7f,let-7g,miR142-5p,miR143-3p,miR26a,miR27a-3p,miR27b-3p,and miR126-3p)in the DCM group were significantly up-regulated(all P<0.05).In the receiver operating characteristic(ROC)curves of DCM patients,the area under the curves of serum miR142-5p,miR143-3p,miR27b-3p,and miR126-3p were 0.983,0.992,0.915 and 0.950,respectively,which were statistically significantly different from those of the healthy control group(all P<0.05).Conclusions Four serum miRNAs(miR-142-5p,miR-126-3p,miR-143-3p and miR-27b-3p)can distinguish children with DCM from healthy children.Circulating miRNAs are effective in screening DCM children.

关 键 词：北京安贞医院 曲线下面积 心脏中心 健康儿童血清 筛查工具 性别匹配 实时荧光定量聚合酶链式反应 诊断学 

分 类 号：R725.4[医药卫生—儿科]