Researchers Identify Genes and Cell Types That May Have Causal Role in POAG Formation
In a new study published in Nature Communications, researchers from Mass Eye and Ear conducted a comprehensive study that combined genetic discoveries from a large cross-ancestry genome-wide association study meta-analysis of primary open-angle glaucoma (POAG), and a large meta-analysis of IOP with genetic regulation studies and single cell expression measurements in glaucoma-relevant eye tissues. In doing so, the researchers say they uncovered key genes, biological processes and cell types that may affect the pathogenesis of POAG, in IOP-dependent and independent manners, according to an article posted on the Mass Eye and Ear website.
Using integrative analyses, researchers identified hundreds of genes and regulatory effects underlying over 100 loci associated with POAG and/or IOP that may contribute to glaucoma risk through altered gene expression levels. These genes are enriched in biological pathways implicated in disease mechanisms, including elastic fiber formation and extracellular matrix organization, vascular development, and neuronal related processes.