Gene expression profile analyses to identify potential biomarkers for myopia

Area of Science:

• Ophthalmology
• Genomics
• Immunology

Background:

• Myopia is increasingly recognized as a complex condition beyond simple refractive error.
• Factors beyond refractive error may play a significant role in myopia development.
• Investigating corneal gene expression offers insights into myopia's underlying mechanisms.

Purpose of the Study:

• To analyze gene expression profiles of myopic and normal corneas.
• To identify potential diagnostic and therapeutic biomarkers for myopia.
• To explore the role of corneal gene expression in myopia.

Main Methods:

• Utilized Gene Expression Omnibus (GEO) datasets (GSE112155, GSE151631) for gene expression profiling.
• Employed 'limma' R package for identifying differentially expressed genes (DEGs).
• Applied Weighted Gene Co-expression Network Analysis (WGCNA) and enrichment analyses, validated on external datasets (GSE24641, GSE136701).

Main Results:

• DEGs were enriched in pathways including UV response, TNF-α signaling, Angiogenesis, and Myogenesis.
• Five gene co-expression modules showed significant differential expression between myopic and normal corneas.
• Immune-related pathways were prominent in the 'lightgreen' module, with specific immune cell populations altered in myopic corneas (e.g., increased B cells, decreased NKT cells).

Conclusions:

• Identified potential corneal markers for myopia diagnosis and treatment.
• Highlighted the significant enrichment of immune-related pathways in myopic corneas.
• Recommended further studies to elucidate the functional role of corneal immune pathways in myopia pathogenesis and progression.