Investigation of genes associated with primary open-angle glaucoma (POAG) using expression profile analysis

Glaucoma is recognized as one of the most common causes of global blindness observed in various types, such as primary open-angle glaucoma (POAG). This condition is characterized by progressive optic neuropathy, leading to the damage of optic nerve fibers. With no symptoms at the beginning, glaucoma results in decreased vision and eventually blindness over several years. Early treatment can prevent the progression of the disease.

The researchers performed a study to evaluate differential gene expression in normal control and POAG cases. A total of 179 DEGs were discovered with 60 up-regulated and 119 down-regulated genes. After the selection of DEGs, the protein-protein interaction network was constructed. The result of GO enrichment showed the DEGs were involved in antioxidant activity, haptoglobin binding, and oxygen carrier activity. Then four modules of the primary protein network were obtained using a STRING database, using the K-means method. Next, gene ontology analysis and Kyoto encyclopedia of genes and genomes pathway enrichment were performed for four modules.

The results showed that the selected module (Yellow module) is highly related to glaucoma pathogenesis genes. Among the genes identified in this module are TYRP1, FMOD, OGN, PAX6, COL8A2, HLA-DPA1, and HLA-DMB, which may be involved in the direct development of glaucoma.

Using integrated bioinformatical analysis, the researchers identified DEGs candidate genes and pathways involved in glaucoma, which improved our understanding of the cause and underlying molecular events. These candidate genes and pathways could be therapeutic targets for glaucoma.