Variant-to-gene mapping in ocular cell types identifies candidate effector genes for primary open-angle glaucoma

Mapping variants to genes in ocular cells reveals 80 candidate effector genes for primary open-angle glaucoma, highlighting ARHGEF12's role in disease mechanisms.

• Why it matters: Understanding the genetic basis of POAG is crucial for developing targeted therapies, as many risk loci remain linked to unclear gene functions and causal pathways.
• What they did: The study analyzed gene expression, chromatin accessibility, and conformation in trabecular meshwork cells and retinal ganglion cells, identifying candidate genes and focusing on ARHGEF12 for validation.
• The result: Reduced ARHGEF12 expression in POAG-derived retinal ganglion cells correlates with morphological and functional disruptions, providing insights into disease pathology and a framework for functional variant evaluation.