Ann Med Med Res | Volume 7, Issue 1 | Research Article | Open Access
Liu A, Zhang Y, Liu J, Peng X* and Lai Y*
Department of Hematology, The Second Affiliated Hospital of Guangxi Medical University, P. R. China
*Correspondance to: Yinghui Lai
Fulltext PDFBackground: Hemophilic Arthropathy (HA) is a common joint disorder observed in individuals with hemophilia. This study aims to screen and identify key genes and signaling pathways associated with HA through various methods. Methods: Microarray datasets from HA patients were obtained from the Gene Expression Omnibus (GEO) database, and Differentially Expressed Genes (DEGs) were identified using the Limma package. Weighted Gene Co-expression Network Analysis (WGCNA) was utilized to pinpoint gene modules highly correlated with HA. Subsequently, hub genes for HA were identified using Least Absolute Shrinkage and Selection Operator (LASSO) regression model and Support Vector Machine-Recursive Feature Elimination (SVM-RFE) model. Gene Set Enrichment Analysis (GSEA), Gene Ontology (GO), and the Kyoto Encyclopedia for Genes and Genomes (KEGG) analyses were conducted to elucidate the biological functions and pathways potentially influencing the pathogenesis of HA. CIBERSORT was utilized to conduct immune analysis. Results: In HA tissues compared with control tissues, a total of 439 DEGs were identified, and 2,740 genes were identified in the HA highly related module based on WGCNA. Among these, 205 genes were identified at the intersection of WGCNA and DEGs as HA-related genes. Pathway analysis revealed significant enrichment of these genes in the cytokine-cytokine receptor interaction pathways. Combining the results from the LASSO regression model and SVM-RFE model, Oxtr and Zbtb20 were ultimately identified as hub genes related to HA. GSEA suggests that HA samples with highly expressed Oxtr or Zbtb20 genes were correlated with Taurine and hypotaurine metabolism. In HA tissue, 8 types of immune cells (Mast Cells, T Cells CD8 Naive, M0 Macrophage, M2 Macrophage, Treg Cells, Th2 Cells, NK Resting, and DC Activated) showed significantly increased infiltration, and 4 types of immune cells (DC Immature, Plasma Cells, M1 Macrophage, and T Cells CD4 Naive) exhibited significantly decreased infiltration. The hub genes (Oxtr and Zbtb20) were significantly associated with the infiltration of various immune cells. Conclusion: Oxtr and Zbtb20 have been identified as hub genes of HA and may play roles in occurrence and development of HA.
Hemophilic arthropathy; WGCNA; GEO; Machine learning; Immune infiltration
Liu A, Zhang Y, Liu J, Peng X, Lai Y. Oxtr and Zbtb20 as Potential Biomarkers of Hemophilic Arthropathy: A Study Based on Weighted Gene Correlation Network Analysis, Immune Infiltration Analysis and Machine Learning. Ann Med Medical Res. 2024; 7: 1082..