Integrated Application of Bioinformatics and Machine Learning to Investigate Apoptosis-Related Genes as Diagnostic Biomarkers and Develop Predictive Models in the Pathogenesis of Behçet's Disease and Atherosclerosis

This study investigates apoptosis-related mechanisms in Behçet's disease (BD)-associated atherosclerosis (AS) through integrated bioinformatics and machine learning. Analysis of datasets (GSE209567, GSE100927) identified BD-specific differentially expressed genes (DEGs) and AS-related hub genes via limma and WGCNA. Intersection with apoptosis-related genes revealed BD-AS-ARGs. Functional enrichment and PPI network analyses highlighted key pathways, while machine learning (LASSO, RF, GBM, XGBoost) prioritized four hub genes (MMP9, SPI1, FOXO3, ITGB3). A diagnostic nomogram demonstrated high accuracy (AUC: 0.986, 95% CI: 0.969–1.000), suggesting these genes as biomarkers and therapeutic targets for BD-induced AS pathogenesis.

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Published
2025-04-11
DOI
https://doi.org/10.1145/3745034.3745119
Primary Topic
Ocular Diseases and Behçet’s Syndrome
Type
article
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article

Integrated Application of Bioinformatics and Machine Learning to Investigate Apoptosis-Related Genes as Diagnostic Biomarkers and Develop Predictive Models in the Pathogenesis of Behçet's Disease and Atherosclerosis

Y. Chen, Changying Li, Xiao‐Jie Yan, Wenchang Guo et al.
Ocular Diseases and Behçet’s Syndrome
article

Integrated Application of Bioinformatics and Machine Learning to Investigate Apoptosis-Related Genes as Diagnostic Biomarkers and Develop Predictive Models in the Pathogenesis of Behçet's Disease and Atherosclerosis

Y. Chen, Changying Li, Xiao‐Jie Yan, Wenchang Guo, S Q Qu, Yidi Tai
article en

Abstract

This study investigates apoptosis-related mechanisms in Behçet's disease (BD)-associated atherosclerosis (AS) through integrated bioinformatics and machine learning. Analysis of datasets (GSE209567, GSE100927) identified BD-specific differentially expressed genes (DEGs) and AS-related hub genes via limma and WGCNA. Intersection with apoptosis-related genes revealed BD-AS-ARGs. Functional enrichment and PPI network analyses highlighted key pathways, while machine learning (LASSO, RF, GBM, XGBoost) prioritized four hub genes (MMP9, SPI1, FOXO3, ITGB3). A diagnostic nomogram demonstrated high accuracy (AUC: 0.986, 95% CI: 0.969–1.000), suggesting these genes as biomarkers and therapeutic targets for BD-induced AS pathogenesis.

Shandong University of Traditional Chinese Medicine (CN)
Openalex Percentile: Top 70%
Ocular Diseases and Behçet’s Syndrome
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