基于转录组分析的冠状动脉疾病枢纽基因鉴定及诊断列线图构建
Identification of Hub Genes and Construction of a Diagnostic Nomogram for Coronary Artery Disease Based on Transcriptomic Analysis
DOI: 10.12677/acm.2026.1641706, PDF,   
作者: 李晨宇：山东大学齐鲁医院内分泌与代谢病科，山东 济南；孙雪纯*：山东大学公共卫生学院营养与食品卫生学系，山东 济南
关键词: 冠状动脉疾病；诊断生物标志物；免疫细胞组成；转录组学；枢纽基因；列线图；Coronary Artery Disease； Diagnostic Biomarkers； Immune Cell Composition； Transcriptomics； Hub Genes； Nomogram
摘要: 背景：冠状动脉疾病(CAD)是一类以冠状动脉粥样硬化为主要病理基础的慢性心血管疾病，其分子机制尚未完全阐明。本研究旨在筛选CAD的诊断相关枢纽基因，并探讨其在免疫病理过程中的潜在作用。方法：从GEO数据库获取GSE20680数据集。采用limma筛选差异表达基因(DEGs)，并进行GO和KEGG富集分析；采用WGCNA识别与CAD相关的模块；利用CIBERSORT推断免疫细胞相对组成；通过SVM-RFE和随机森林算法交集筛选枢纽基因；进一步构建诊断列线图，并采用校准曲线、DCA及ROC进行评价。结果：CAD相关差异基因主要涉及氧化磷酸化、核糖体、能量代谢及免疫炎症相关通路。最终筛选出3个枢纽基因：PSMA6、TOMM7和RPL9。免疫特征分析显示，CAD组与对照组在多种免疫细胞亚群相对丰度上存在差异。基于枢纽基因构建的列线图具有一定判别能力(AUC约为0.65)和校准性能。结论：PSMA6、TOMM7和RPL9可能作为CAD的潜在诊断生物标志物。基于枢纽基因构建的列线图可为CAD的早期识别及风险评估提供一定参考。
Abstract: Background: Coronary artery disease (CAD) is a chronic cardiovascular disorder primarily based on coronary atherosclerosis, and its molecular mechanisms remain incompletely understood. This study aimed to identify diagnostic hub genes for CAD and to explore their potential roles in its immunopathological processes. Methods: The GSE20680 dataset was obtained from the GEO database. Differentially expressed genes (DEGs) were identified using limma, followed by GO and KEGG enrichment analyses. WGCNA was performed to identify CAD-related modules. CIBERSORT was used to infer the relative composition of immune cells. Hub genes were screened by intersecting the results of SVM-RFE and random forest. A diagnostic nomogram was then constructed and evaluated using calibration curves, decision curve analysis (DCA), and receiver operating characteristic (ROC) curves. Results: CAD-related DEGs were mainly involved in oxidative phosphorylation, ribosome, energy metabolism, and immune-inflammatory pathways. Three hub genes were ultimately identified: PSMA6, TOMM7, and RPL9. Immune profiling analysis showed differences in the relative abundance of multiple immune cell subsets between the CAD and control groups. The nomogram constructed based on the hub genes showed a certain discriminative ability (AUC approximately 0.65) and calibration performance. Conclusion: PSMA6, TOMM7, and RPL9 may serve as potential diagnostic biomarkers for CAD. The nomogram constructed based on these hub genes may provide a useful reference for the early identification and risk assessment of CAD.
文章引用：李晨宇, 孙雪纯. 基于转录组分析的冠状动脉疾病枢纽基因鉴定及诊断列线图构建[J]. 临床医学进展, 2026, 16(4): 4369-4382. https://doi.org/10.12677/acm.2026.1641706

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