Integrated Bioinformatics and Machine Learning Analysis Identifies Inflammation-Related Biomarkers and Immune
1Department of Biochemistry and Molecular Biology, College of Pharmacy, Hebei University of Chinese Medicine, Shijiazhuang 050000, China.
Genes
|July 28, 2026
Summary
This study identified a 7-gene signature for early atherosclerosis (AS) diagnosis and risk stratification. These genes are linked to immune cell infiltration, offering potential new biomarkers for this inflammatory vascular disease.
Area of Science:
- Cardiovascular Research
- Immunology
- Genetics and Genomics
Background:
- Atherosclerosis (AS) is a chronic inflammatory vascular disease.
- Current diagnostic and risk stratification methods for AS lack reliable biomarkers.
- Identifying novel biomarkers is crucial for early diagnosis and improved patient outcomes.
Purpose of the Study:
- To identify hub genes with diagnostic potential in atherosclerosis.
- To characterize the immune microenvironment remodeling associated with AS.
- To develop a gene-based diagnostic signature for AS.
Main Methods:
- Integrated multiple gene expression datasets (GSE43292, GSE100927, GSE41571, GSE120521, GSE28829) for training and validation.
- Utilized ComBat for batch effect correction, limma for differential gene expression analysis.
- Employed LASSO regression and Random Forest for hub gene identification, ssGSEA for immune infiltration analysis, and logistic regression with ROC analysis for model validation.
Main Results:
- Identified 1349 differentially expressed genes (DEGs), with significant enrichment in immune and inflammation pathways.
- Discovered a robust 7-gene signature (IBSP, XAF1, SCAMP5, SAMD9L, MYBL1, PCDH12, CDH19) with high diagnostic accuracy (AUC > 0.95 in validation cohorts).
- Revealed extensive immune microenvironment remodeling, with increased infiltration of multiple immune cell types, and strong correlations between hub genes and immune cells.
Conclusions:
- A 7-gene diagnostic signature for atherosclerosis has been identified.
- This signature demonstrates high diagnostic performance and potential for early detection and risk stratification.
- The findings highlight the intricate link between atherosclerosis pathogenesis and the inflammatory immune microenvironment.
