儿童孤独症谱系障碍患者外周血miRNA表达谱及临床意义  

Expression profile and clinical significance of miRNA in children with autism spectrum disorder

作　　者：仇君[1] 陈雁如 龚帅正 胡南非 刘力 马烨 梁礼娟 唐杰 Qiu Jun;Chen Yanru;Gong Shuaizheng;Hu Nanfei;Liu Li;Ma Ye;Liang Lijuan;Tang Jie(Institute of Pediatric Medicine,Hunan Children's Hospital,Changsha 410007,China;School of Public Health,Guangzhou Medical University,Guangzhou 511436,China;Academy of Pediatrics,University of South China,Hengyang 421001,China;Infectious Disease Department,Hunan Children's Hospital,Changsha 410007,China)

机构地区：[1]湖南省儿童医院儿科医学研究所,长沙410007 [2]广州医科大学公共卫生学院,广州511436 [3]南华大学衡阳医学院儿科学院,衡阳421001 [4]湖南省儿童医院感染科,长沙410007

出　　处：《中国医师杂志》2022年第5期700-706,共7页Journal of Chinese Physician

基　　金：湖南省自然科学基金(2018JJ3272)。

摘　　要：目的分析儿童孤独症谱系障碍(ASD)患者外周血miRNA的表达谱,并初步探讨差异表达miRNA的临床意义。方法采用miRNA芯片分析3对ASD患者-健康对照外周血miRNA的表达;利用17对ASD患者-健康对照对差异表达的miRNA进行验证;利用受试者工作特征(ROC)曲线分析差异表达的miRNA诊断ASD的价值。结果3对miRNA基因芯片共筛选出32个差异表达的基因,其中上调基因12个,下调基因20个;对其中20个差异表达的miRNA进行验证,发现ASD患者外周血miR-15a-5p、miR-27a-3p、miR-142-3p、miR-142-5p的表达显著上调,差异均有统计学意义(均P<0.05)。ROC曲线分析显示上述4个miRNA用于诊断ASD时曲线下面积(AUC)均>0.70,灵敏度分别为94.12%、100%、100%、82.35%。结论ASD患者中miR-142-3p、miR-27a-3p、miR-15a-5p和miR-142-5p的表达上调,可以作为早期筛查ASD的生物标志物。Objective The purpose of this study was to analyze the expression profile of miRNAs in children with autism spectrum disorders(ASD),and to discuss the clinical significance of differentially expressed miRNAs.Methods MiRNA microarray was used to analyze the expression of miRNA in peripheral blood of 3 pairs of ASD patients-healthy controls;17 pairs of ASD patients-healthy controls were used to verify the differentially expressed miRNA;Receiver operating characteristic(ROC)curve was used to analyze the differential expression the value of miRNA in the diagnosis of ASD.Results A total of 32 differentially expressed genes were screened by 3 pairs of miRNA microarray including 12 up-regulated miRNAs and 20 down-regulated miRNAs.miRNA verification of 20 differentially expressed miRNAs showed miR-15a-5p,miR-27a-3p,miR-142-3p and miR-142-5p were significantly down-regulated in children with ASD,with statistically significant difference(all P<0.05).ROC curve analysis showed that the area under the curve(AUC)of the above four miRNAs diagnosing ASD were all greater than 0.70,with sensitivities 94.12%,100%,100%,and 82.35%,respectively.Conclusions The expression of miR-142-3p,miR-27a-3p/miR-15a-5p,and miR-142-5p is down-regulated in the peripheral blood of ASD patients,and has the potential as biomarkers for early screening of ASD.

关 键 词：孤独症谱系障碍 微RNAS 芯片分析技术 

分 类 号：R749.94[医药卫生—神经病学与精神病学]