Investigating immune cell infiltration and gene expression features in pterygium pathogenesis

Area of Science:

• Ophthalmology
• Molecular Biology
• Immunology

Background:

• Pterygium is a common eye condition involving conjunctival tissue growth, impacting patient quality of life.
• The molecular drivers and immune microenvironment of pterygium pathogenesis are not fully understood.

Purpose of the Study:

• To investigate gene expression alterations in pterygium tissues post-excision.
• To identify potential diagnostic biomarkers and understand the role of immune cell infiltration in pterygium development.

Main Methods:

• Transcriptomic analysis (RNA sequencing) of clinical pterygium and conjunctival samples.
• Bioinformatics approaches including machine learning (LASSO, SVM-RFE, Random Forest) for biomarker identification.
• Gene Ontology (GO), KEGG, Gene Set Enrichment Analysis (GSEA), and Gene Set Variation Analysis (GSVA) for functional enrichment and immune cell infiltration analysis.

Main Results:

• Identified 52 co-differentially expressed genes (co-DEGs) between datasets, with FN1 and SPRR1B emerging as significant candidate biomarkers.
• Revealed increased Th2 cell infiltration and decreased CD8+ T cell presence in pterygium tissues, indicating immune microenvironment involvement.
• Validated higher expression of FN1 and SPRR1B in pterygium tissues, with potential drug candidates identified.

Conclusions:

• Pterygium pathogenesis involves specific gene expression changes and a distinct immune microenvironment.
• FN1 and SPRR1B show promise as diagnostic biomarkers for pterygium.
• Findings provide a foundation for clinical applications and further research into pterygium treatment.