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Published on: February 13, 2013
Exploration of effective biomarkers for venous thrombosis embolism in Behçet's disease based on comprehensive
Chunjiang Liu1, Yuan Wang2, Zhifeng Wu1,3
1Division of Vascular Surgery, Department of General Surgery, Shaoxing People's Hospital, Shaoxing, 312000, China.
Insights
This study identified four key genes (E2F1, GATA3, HDAC5, MSH2) as potential biomarkers for diagnosing venous thromboembolism (VTE) in Behçet's disease (BD) patients. These findings may aid in early VTE detection and treatment strategies for BD.
Area of Science:
- Immunology
- Genetics
- Vascular Medicine
Background:
- Behçet's disease (BD) is a systemic autoimmune disorder.
- Venous thromboembolism (VTE) is a common and serious complication in BD patients, affecting approximately 50%.
- Identifying reliable biomarkers for VTE in BD is crucial for timely diagnosis and management.
Purpose of the Study:
- To identify potential diagnostic biomarkers for VTE in Behçet's disease patients.
- To explore the underlying molecular mechanisms and immune cell involvement in BD-associated VTE.
- To screen for potential therapeutic agents targeting identified biomarkers.
Main Methods:
- Analysis of three microarray datasets (GSE209567, GSE48000, GSE19151).
- Identification of differentially expressed genes (DEGs) using Limma and WGCNA.
- Protein-protein interaction network analysis, machine learning algorithms, ROC curve, and nomogram construction.
- Immune cell infiltration analysis and ssGSEA.
Main Results:
- 117 DEGs related to VTE in BD were identified; 23 candidate hub genes were selected.
- Four key genes (E2F1, GATA3, HDAC5, MSH2) were identified as potential diagnostic biomarkers with high accuracy (AUC: 0.816).
- Immune cell infiltration analysis indicated potential macrophage involvement; ssGSEA provided mechanistic insights.
Conclusions:
- Four genes (E2F1, GATA3, HDAC5, MSH2) and a nomogram show promise for diagnosing VTE in BD patients.
- Immune dysregulation, potentially involving macrophages, contributes to VTE development in BD.
- The study identified potential therapeutic targets for BD-associated VTE.
Abstract:
Behçet's disease (BD) is a multifaceted autoimmune disorder affecting multiple organ systems. Vascular complications, such as venous thromboembolism (VTE), are highly prevalent, affecting around 50% of individuals diagnosed with BD. This study aimed to identify potential biomarkers for VTE in BD patients. Three microarray datasets (GSE209567, GSE48000, GSE19151) were retrieved for analysis. Differentially expressed genes (DEGs) associated with VTE in BD were identified using the Limma package and weighted gene co-expression network analysis (WGCNA). Subsequently, potential diagnostic genes were explored through protein-protein interaction (PPI) network analysis and machine learning algorithms. A receiver operating characteristic (ROC) curve and a nomogram were constructed to evaluate the diagnostic performance for VTE in BD patients. Furthermore, immune cell infiltration analyses and single-sample gene set enrichment analysis (ssGSEA) were performed to investigate potential underlying mechanisms. Finally, the efficacy of listed drugs was assessed based on the identified signature genes. The limma package and WGCNA identified 117 DEGs related to VTE in BD. A PPI network analysis then selected 23 candidate hub genes. Four DEGs (E2F1, GATA3, HDAC5, and MSH2) were identified by intersecting gene sets from three machine learning algorithms. ROC analysis and nomogram construction demonstrated high diagnostic accuracy for these four genes (AUC: 0.816, 95% CI: 0.723-0.909). Immune cell infiltration analysis revealed a positive correlation between dysregulated immune cells and the four hub genes. ssGSEA provided insights into potential mechanisms underlying VTE development and progression in BD patients. Additionally, therapeutic agent screening identified potential drugs targeting the four hub genes. This study employed a systematic approach to identify four potential hub genes (E2F1, GATA3, HDAC5, and MSH2) and construct a nomogram for VTE diagnosis in BD. Immune cell infiltration analysis revealed dysregulation, suggesting potential macrophage involvement in VTE development. ssGSEA provided insights into potential mechanisms underlying BD-induced VTE, and potential therapeutic agents were identified.
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Venous Thrombosis I: Introduction
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies
Venous Thrombosis III: Interprofessional Care

