Candidate genes identification and RNA-seq based pathway analysis associated with primary angle-closure glaucoma with...

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• Cataract is frequently observed in patients with primary angle-closure glaucoma (PACG).
• The pathological mechanisms linking PACG and cataract progression are not fully understood.
• Identifying genes associated with cataract development in PACG is crucial for understanding disease mechanisms.

Purpose of the Study:

• To identify potential prognostic genes associated with cataract progression in PACG patients.
• To elucidate the molecular mechanisms underlying cataract development in PACG.
• To explore novel therapeutic targets for PACG with cataract.

Main Methods:

• Anterior capsular membrane samples from PACG patients and age-related cataract patients were analyzed.
• High-throughput sequencing identified differentially expressed genes (DEGs) between the two groups.
• Bioinformatic analyses (Gene ontology, KEGG, STRING, Cytoscape) predicted prognostic markers and coexpression networks, with validation by RT-qPCR.

Main Results:

• 399 DEGs were identified in PACG patients with cataracts.
• Seven key genes (CTGF, FOS, CAV1, CYR61, ICAM1, EGR1, NR4A1) were significantly enriched.
• These genes are primarily involved in MAPK, PI3K/Akt, Toll-like receptor, and TNF signaling pathways.

Conclusions:

• Seven genes and their associated signaling pathways may drive cataract progression in PACG patients.
• These findings reveal novel molecular mechanisms for the high incidence of cataracts in PACG.
• The identified genes offer potential foundations for developing new therapeutic strategies for PACG with cataract.