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生物信息学分析鉴定扩张型心肌病的关键免疫相关基因。

Identification of key immune-related genes in dilated cardiomyopathy using bioinformatics analysis.

机构信息

Department of Cardiology, Wuxi People's Hospital Affiliated to Nanjing Medical University, No. 299, Qingyang Road, Wuxi, 214023, China.

Department of Critical Care Medicine, The Second Hospital of Nanjing, Nanjing University of Chinese Medicine, Nanjing, 210003, China.

出版信息

Sci Rep. 2023 Feb 1;13(1):1820. doi: 10.1038/s41598-022-26277-w.

DOI:10.1038/s41598-022-26277-w
PMID:36725968
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9892583/
Abstract

Dilated cardiomyopathy (DCM) is characterized by the left ventricular dilatation and impaired myocardial systolic dysfunction with high mortality and morbidity. However, the underlying mechanisms remain elusive. We first identified the differentially expressed genes (DEGs) between the DCM and control group using two expression profiles from GSE3585 and GSE84796. Enrichment analysis was conducted to explore the potential mechanisms underlying DCM. A total of four algorithms, including key module of MCODE, degree, maximum neighborhood component (MNC), and maximal clique centrality (MCC), were used to identify the hub genes within Cytoscape. The correlation between hub genes and infiltrated immune cells was evaluated to determine potential immune-related genes. The expression analysis and diagnosis value analysis of potential immune-related genes were performed. Finally, the expression analysis with GSE57338 and relationship analysis with the comparative toxicogenomics database (CTD) were performed to identify the key immune-related genes in DCM. A total of 80 DEGs were screened for DCM. Enrichment analysis revealed that DEGs were involved in the immune-related pathological process. Immune infiltration analysis indicated a potentially abnormal immune response in DCM. Four up-regulated genes (COL1A2, COL3A1, CD53, and POSTN) were identified as potential immune-related genes. Finally, three genes (COL1A2, COL3A1, and POSTN) were determined as the key immune-related genes in DCM via expression analysis with a validation set (GSE57338) and relationship analysis with CTD. Our study suggested that the upregulated COL1A2, COL3A1, and POSTN might be the key immune-related genes for DCM. Further studies are needed to validate the underlying mechanisms.

摘要

扩张型心肌病（DCM）的特征是左心室扩张和心肌收缩功能障碍，死亡率和发病率高。然而，其潜在机制仍不清楚。我们首先使用来自 GSE3585 和 GSE84796 的两个表达谱来识别 DCM 和对照组之间的差异表达基因（DEGs）。进行富集分析以探索 DCM 潜在的机制。总共使用了四种算法，包括 MCODE 的关键模块、度、最大邻域成分（MNC）和最大团中心性（MCC），以在 Cytoscape 中识别枢纽基因。评估枢纽基因与浸润免疫细胞之间的相关性，以确定潜在的免疫相关基因。对潜在免疫相关基因进行表达分析和诊断价值分析。最后，对 GSE57338 进行表达分析并与比较毒理学基因组数据库（CTD）进行关系分析，以识别 DCM 中的关键免疫相关基因。筛选了 80 个与 DCM 相关的 DEGs。富集分析表明 DEGs 参与了免疫相关的病理过程。免疫浸润分析表明 DCM 中可能存在异常的免疫反应。确定了四个上调基因（COL1A2、COL3A1、CD53 和 POSTN）为潜在的免疫相关基因。最后，通过对验证集（GSE57338）进行表达分析和与 CTD 进行关系分析，确定了三个基因（COL1A2、COL3A1 和 POSTN）为 DCM 的关键免疫相关基因。我们的研究表明，上调的 COL1A2、COL3A1 和 POSTN 可能是 DCM 的关键免疫相关基因。需要进一步研究来验证潜在的机制。

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