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转录数据分析揭示了婴儿血管瘤与静脉畸形之间的关联。

Transcriptional data analysis reveals the association between infantile hemangiomas and venous malformations.

作者信息

Huang Biao, Zhang Ping, Zhong Yuan-Yuan, Wang Kuan, Chen Xiao-Ming, Yu Dao-Jiang

机构信息

Department of Plastic and Burn Surgery, The Second Affiliated Hospital of Chengdu Medical College, China National Nuclear Corporation 416 Hospital, Chengdu, China.

West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, China.

出版信息

Front Genet. 2022 Oct 19;13:1045244. doi: 10.3389/fgene.2022.1045244. eCollection 2022.

Abstract

Infantile hemangiomas (IH) and venous malformations (VM) are the most common types of vascular abnormalities that seriously affect the health of children. Although there is evidence that these two diseases share some common genetic changes, the underlying mechanisms need to be further studied. The microarray datasets of IH (GSE127487) and VM (GSE7190) were downloaded from GEO database. Extensive bioinformatics methods were used to investigate the common differentially expressed genes (DEGs) of IH and VM, and to estimate their Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Trough the constructing of protein-protein interaction (PPI) network, gene models and hub genes were obtained by using Cytoscape and STRING. Finally, we analyzed the co-expression and the TF-mRNA-microRNA regulatory network of hub genes. A total of 144 common DEGs were identified between IH and VM. Functional analysis indicated their important role in cell growth, regulation of vasculature development and regulation of angiogenesis. Five hub genes (CTNNB1, IL6, CD34, IGF2, MAPK11) and two microRNA (has-miR-141-3p, has-miR-150-5p) were significantly differentially expressed between IH and normal control ( < 0.05). In conclusion, our study investigated the common DEGs and molecular mechanism in IH and VM. Identified hub genes and signaling pathways can regulate both diseases simultaneously. This study provides insight into the crosstalk of IH and VM and obtains several biomarkers relevant to the diagnosis and pathophysiology of vascular abnormalities.

摘要

婴儿血管瘤(IH)和静脉畸形(VM)是严重影响儿童健康的最常见血管异常类型。尽管有证据表明这两种疾病存在一些共同的基因变化,但其潜在机制仍需进一步研究。从基因表达综合数据库(GEO)下载了IH(GSE127487)和VM(GSE7190)的微阵列数据集。运用广泛的生物信息学方法研究IH和VM的共同差异表达基因(DEGs),并评估其基因本体(GO)和京都基因与基因组百科全书(KEGG)通路。通过构建蛋白质-蛋白质相互作用(PPI)网络,利用Cytoscape和STRING获得基因模型和枢纽基因。最后,分析了枢纽基因的共表达以及转录因子-信使核糖核酸-微小核糖核酸调控网络。在IH和VM之间共鉴定出144个共同的DEGs。功能分析表明它们在细胞生长、血管发育调控和血管生成调控中起重要作用。IH与正常对照之间有5个枢纽基因(CTNNB1、IL6、CD34、IGF2、MAPK11)和2个微小核糖核酸(has-miR-141-3p、has-miR-150-5p)存在显著差异表达(<0.05)。总之,我们的研究调查了IH和VM中的共同DEGs及分子机制。鉴定出的枢纽基因和信号通路可同时调节这两种疾病。本研究为IH和VM之间的相互作用提供了见解,并获得了与血管异常诊断和病理生理学相关的几种生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c35e/9626979/227d401639c5/fgene-13-1045244-g001.jpg

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