Prioritization and follow up of primary open-angle glaucoma associated genes

Genome-wide association studies (GWASs) have identified tens of genetic loci for primary open-angle glaucoma (POAG), which provide a starting point for functional follow-up studies. Most of these loci map to noncoding variants and thus, the identification of their cognate effector genes and subsequently involved mechanisms and physiologic processes is still elusive. Applying systems biology approaches will offer promising new insights into the disease etiology. In this regard this study aims to: (i) prioritize the most likely ‘causal’ genes, and (ii) identify the underlying biological pathways and functional characteristics of the prioritized genes.

Keywords:

Association , glaucoma , gene prioritization , causality , pathway