自噬基因在颅内动脉瘤破裂中的生物信息分析

doi:10.19854/j.cnki.1008-2425.2023.01.0007

摘要/Abstract

摘要： 目的通过生物信息分析方法,探讨自噬在颅内动脉瘤(Intracranial aneurysm,IA)破裂中的潜在作用。方法对基因表达芯片数据进行差异性分析,得到的差异表达基因(Differential Expression Genes,DEGs)与自噬基因取交集后采用基因本体(Gene Ontology,GO)、京都基因与基因组百科全书(Kyoto encyclopedia of genes and genomes,KEGG)富集分析及蛋白相作网络(Protein-protein interaction,PPI)构建的方法,探讨基因富集的生物学功能,鉴定关键基因。对数据集进行免疫浸润分析,并分析关键基因与免疫细胞浸润的相关性。结果共筛选出17个IA破裂中差异表达的自噬相关基因,主要富集于自噬(动物),雌激素信号通路,坏死性凋亡等信号通路。70KDA热休克蛋白8(Heat shock 70?kDa protein 8,HSPA8),90KDA热休克蛋白AB1(Heat shock protein 90 kDA alpha,class B,member 1,HSP90AB1),磷酸酶张力蛋白同源物(Phosphatase And Tensin Homolog,PTEN),PTEN诱导激酶1(PTEN-induced putative kinase 1,PINK1)及溶酶体关联膜蛋白2(Lysosomal Associated Membrane Protein 2,LAMP2)是IA破裂自噬相关的关键基因,与免疫细胞的浸润情况密切相关。结论本研究发现HSPA8,HSP90AB1,PINK1,PTEN及LAMP2通过自噬影响IA破裂,为自噬影响IA破裂的具体机制研究提供了新思路。

关键词: 颅内动脉瘤, 自噬, 免疫浸润, 关键基因, 生物信息分析

Abstract: Objective To explore the potential role of autophagy related genes in ruptured intracranial aneurysm by bioinformatics methods.Methods Gene expression profile data and clinical related information on intracranial aneurysm patients were collected from the GEO database,and the significantlydifferent-expression-genes(DEGs)were determined.Then,the autophagy related genes obtained from GeneCards were used to intersection with DEGs,and the intersection genes were performed by gene ontology(GO) and kyoto encyclopedia of genes and genomes(KEGG) enrichment analysis,and the protein-protein interaction(PPI) network were conducted to find out the hub genes.Finally,immune infiltraton was extracted and quantfied based on the processed gene expression matrix,and the correlaton between immune infiltratng cells and hub genes was analyzed.Results Seventeen significantly autophagic DEGs were identified for ruptured intracranial aneurysm,which were enriched in autophagy (animal),estrogen pathway,necroptosis signaling pathway.Furthermore,Heat shock 70?kDa protein 8 (HSPA8)Heat shock protein 90 kDA alpha,class B,member 1 (HSP90AB1),Phosphatase And Tensin Homolog (PTEN),PTEN-induced putative kinase 1 (PINK1) and Lysosomal Associated Membrane Protein 2 (LAMP2) were identified as hub genes after PPI network analysis,and the hub genes expression was significantly correlated with the degree of immune infiltration.Conclusion The genes HSPA8,HSP90AB1,PINK1,PTEN and LAMP2 regulate the autophagy response and affect the occurrence and development of ruptured intracranial aneurysm.

Key words: Intracranial aneurysm, Autophagy, Immune infiltration, Hub genes, Bioinformation analysis

中图分类号:

R732.2⁺1

胡慧宇, 孙新刚. 自噬基因在颅内动脉瘤破裂中的生物信息分析[J]. 立体定向和功能性神经外科杂志, 2023, 36(1): 35-41.

Hu Huiyu, Sun Xingang. Bioinformatics analysis of autophagy genes of ruptured intracranial aneurysm[J]. Chinese Journal of Stereotactic and Functional Neurosurgery, 2023, 36(1): 35-41.

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