NSCL/P患儿异常表达miRNAs的生物信息学分析  

Bioinformatics analysis of dysregulated miRNAs in the tissue of children with nonsyndromic cleft lip and/or cleft palate

作　　者：苏艳国 孟琰[1] 孙长生[1] 施磊[1] 强冬霞 赵尔杨[1] 

机构地区：[1]哈尔滨医科大学附属第一医院口腔医学院口腔组织病理科,150001

出　　处：《实用口腔医学杂志》2016年第6期805-809,共5页Journal of Practical Stomatology

基　　金：黑龙江省教育厅基金(编号:12511220);李嘉诚基金-全国"重生行动"科研基金

摘　　要：目的:利用芯片杂交技术筛选出非综合征性唇腭裂(NSCL/P)患儿组织中异常表达的microRNAs(miRNAs),并进行系统的生物信息学分析,预测其参与的生物学过程及信号通路。方法:收集4例健康新生儿的脐带组织和4例2岁以内NSCL/P患儿唇腭组织,分别进行miRNAs芯片杂交的比对研究,筛选出异常表达miRNAs,并将其分别通过TARGETSCANVERT、MIRDB和RNA22-HSA 3个数据库进行生物信息学预测并取交集得到靶基因,进行基因功能富集分析(gene ontology)和生物通路富集分析(pathway enrichment)。结果:样本中检测出异常表达的miRNAs 254条(上调表达181条,下调表达73条,P<0.05)。对异常表达的miRNAs进行生物信息学预测并取交集得到靶基因5 029个。异常表达的miRNAs靶基因富集于解剖结构的发育、细胞黏附、细胞凋亡、细胞分化和细胞迁移等多个生物学过程;异常表达的miRNAs靶基因信号通路富集于Wnt、m TOR、c GMP-PKG、TGFβ、PI3K-Akt等信号通路。结论:NSCL/P异常表达miRNAs预测出的靶基因富集于多个信号通路和生物学功能,其相关信号通路与生物学功能提示基因与环境因素能够影响NSCL/P的形成。Objective： To screen the differentially expressed miRNAs in umbilical cord tissue of children with nonsyndromic cleft lip and/or cleft palate（NSCL/P） using miRNA microarray and comprehensive bioinformatics analysis for the prediction of related the bio- logical process and signaling pathways. Methods： Umbilical cord tissues of 4 cases of healthy newborns＇and 4 lip or palate tissues of 4 cases with NSCL/P without other disease aged younger than 2 years were collected. The differentially expressed miRNAs were screened by miRNA microarray. Targets of dysrugulated miRNAs were predicted by TARGETSCAN-VERT, MIRDB and RNA22-HSA. All the gene sets were analyzed by gene ontology and pathway enrichment. Results： MiRNA microarray demonstrated that 254 miRNAs were dysregulated（ 181 miRNAs were up-regulated and 73 downregulated,P 〈 0.05）. The dysregulated miRNAs targets contained 5029 genes. The dysregulated miRNAs targets were enriched in anatomical structure development, cell adhesion, cell proliferation, cell motili- ty and other biological processes. The dysregulated miRNAs targets were enriched in Wnt, roTOR, cGMP-PKG, TGF[3, PI3K-Akt and other signaling pathways. Conclusion： The target genes set of miRNAs are enriched in multiple biological processes and signaling path- ways related to NSCL/P, which indicate that genetic and environmental factors may influence the development process of NSCL/P.

关 键 词：MIRNAS 非综合征性唇腭裂(NSCL/P) 生物信息学 靶基因 信号通路 

分 类 号：R782.2[医药卫生—口腔医学]