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基因联合筛查与婴儿猝死综合征和婴儿感染性猝死相关,并对其调控网络进行生物信息学分析。

Screening of Genes Co-Associated with Sudden Infant Death Syndrome and Infectious Sudden Death in Infancy and Bioinformatics Analysis of Their Regulatory Networks.

机构信息

College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.

NHC Key Laboratory of Forensic Medicine, Xi'an Jiaotong University, Xi'an 710061, China.

出版信息

Fa Yi Xue Za Zhi. 2023 Oct 25;39(5):433-440. doi: 10.12116/j.issn.1004-5619.2022.420803.

DOI:10.12116/j.issn.1004-5619.2022.420803
PMID:38006261
Abstract

OBJECTIVES

The common differentially expressed mRNAs in brain, heart and liver tissues of deceased sudden infant death syndrome (SIDS) and infectious sudden death in infancy (ISDI) confirmed by autopsy was screened by bioinformatics to explore the common molecular markers and pathogenesis of SIDS and ISDI.

METHODS

The datasets of GSE70422 and GSE136992 were downloaded, the limma of R software was used to screen differentially expressed mRNA in different tissue samples of SIDS and ISDI decedents for overlapping analysis. The clusterProfiler of R software was used to conduct gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. The protein-protein interaction (PPI) network was constructed by STRING database, while the hub gene was screened by cytoHubba plug-in.

RESULTS

Compared with the control group, there were 19 significant differentially expressed genes in the tissue samples of SIDS and ISDI decedents, among which 16 in the heart tissue and 3 in the liver tissue, and the astrotactin 1 () gene expression difference in the heart tissue was most significant. The PPI network identified Ras homolog family member A (), integrin subunit alpha 1 (), and H2B clustered histone 5 () were hub genes. The analysis of GO and KEGG showed that differentially expressed genes were enriched in the molecular pathways of actin cytoskeleton regulation, focal adhesion and response to mycophenolic acid.

CONCLUSIONS

, and may participate in the development of SIDS and ISDI. The enrichment of differentially expressed genes in immune and inflammatory pathways suggests a common molecular regulatory mechanism between SIDS and ISDI. These findings are expected to provide new biomarkers for molecular anatomy and forensic identification of SIDS and ISDI.

摘要

目的

通过生物信息学筛选尸检证实的脑、心、肝组织中死亡的婴儿猝死综合征(SIDS)和感染性婴儿猝死(ISDI)的常见差异表达 mRNA,探讨 SIDS 和 ISDI 的共同分子标志物和发病机制。

方法

下载 GSE70422 和 GSE136992 数据集,使用 R 软件中的 limma 对 SIDS 和 ISDI 死者不同组织样本中的差异表达 mRNA 进行重叠分析。使用 R 软件中的 clusterProfiler 进行基因本体论(GO)和京都基因与基因组百科全书(KEGG)富集分析。通过 STRING 数据库构建蛋白质-蛋白质相互作用(PPI)网络,并用 cytoHubba 插件筛选枢纽基因。

结果

与对照组相比,SIDS 和 ISDI 死者组织样本中有 19 个差异表达基因显著上调,其中 16 个在心脏组织中,3 个在肝脏组织中,心脏组织中星形胶质细胞丝氨酸蛋白酶 1()基因表达差异最显著。PPI 网络鉴定 Ras 同源家族成员 A()、整合素亚基α1()和 H2B 组蛋白 5()是枢纽基因。GO 和 KEGG 分析表明,差异表达基因富集在肌动蛋白细胞骨架调节、粘着斑和对霉酚酸的反应等分子途径中。

结论

、和可能参与了 SIDS 和 ISDI 的发生发展。差异表达基因在免疫和炎症途径中的富集提示 SIDS 和 ISDI 之间存在共同的分子调控机制。这些发现有望为 SIDS 和 ISDI 的分子解剖学和法医鉴定提供新的生物标志物。

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