基于 GEO 数据库的自闭症谱系障碍差异基因的筛选和生物信息学分析。

Screening and Bioinformatics Analysis of Differential Genes in Autism Spectrum Disorder Based on GEO Database.

机构信息

Affiliated Hospital of Weifang Medical University, School of clinical medicine, Weifang Medical University, Weifang, China.

Key Laboratory of Birth Regulation and Control Technology of National Health Commission of China, Shandong Provincial Maternal and Child Health Care Hospital affiliated to Qingdao University, Jinan, China.

出版信息

Stud Health Technol Inform. 2023 Nov 23;308:280-288. doi: 10.3233/SHTI230851.

DOI:10.3233/SHTI230851

PMID:38007751

Abstract

OBJECTIVE

The prevalence of autism spectrum disorder (ASD) in children has been increasing year by year, which has seriously affected the quality of life of children. There are many theories about the cause of ASDs, with some studies suggesting that it may be related to gene expression levels or inflammation and immune system dysfunction. But the exact mechanism is not fully understood.

METHODS

profile of gene expression The protein interaction network (PPI) of differentially expressed genes was created using the STRING web tool and GSE77103, which was chosen from the gene expression omnibus (GEO) database. Using the CytoHubba plugin of Cytoscape program, the hub genes were examined. The hub gene regulatory network for miRNA-mRNA was then built.

RESULTS

We identified 551 differentially expressed genes(DEGs) in 8 children with ASD and normal children. In addition, we screened out 10 hub genes (MX1, ISG15, IRF7, DDX58, IFIT1, BCL2L1, HPGDS, CTSD, PTGS2 and CD68) that were most associated with the development of ASDs. Then, microRNAs (miRNAs) closely related to hub genes (such as has-miR-27a-5p) were screened, and the miRNA-mRNA regulatory network was constructed.

CONCLUSION

In this study, a total of 10 hub genes were identified, including MX1, ISG15, IRF7, DDX58, IFIT1, BCL2L1, HPGDS, CTSD, PTGS2 and CD68, which are closely related to ASD. These genes may play a key role in the occurrence and progression of ASD. In addition, we also revealed some miRNAs that regulate the hub genes of ASD. These results may deepen our understanding of ASD and provide potential biomarkers and targets for future treatment of patients with ASD.

摘要

目的

儿童自闭症谱系障碍（ASD）的患病率逐年上升，严重影响了儿童的生活质量。关于 ASD 的病因有很多理论，一些研究表明，它可能与基因表达水平或炎症和免疫系统功能障碍有关。但确切的机制尚未完全阐明。

方法

从基因表达综合数据库（GEO）中选择 GSE77103 数据集，使用 STRING 网络工具构建差异表达基因的蛋白质互作网络（PPI）。使用 Cytoscape 程序的 CytoHubba 插件，检测枢纽基因。然后构建 miRNA-mRNA 枢纽基因调控网络。

结果

我们在 8 名 ASD 儿童和正常儿童中鉴定出 551 个差异表达基因（DEGs）。此外，我们筛选出与 ASD 发生发展最相关的 10 个枢纽基因（MX1、ISG15、IRF7、DDX58、IFIT1、BCL2L1、HPGDS、CTSD、PTGS2 和 CD68）。然后，筛选与枢纽基因密切相关的 microRNAs（miRNAs）（如 has-miR-27a-5p），并构建 miRNA-mRNA 调控网络。

结论

在这项研究中，共鉴定出 10 个枢纽基因，包括 MX1、ISG15、IRF7、DDX58、IFIT1、BCL2L1、HPGDS、CTSD、PTGS2 和 CD68，它们与 ASD 密切相关。这些基因可能在 ASD 的发生和发展中起关键作用。此外，我们还揭示了一些调节 ASD 枢纽基因的 miRNAs。这些结果可能加深我们对 ASD 的理解，并为未来 ASD 患者的治疗提供潜在的生物标志物和靶点。