Genetic Risk Factors for Glaucoma and Exfoliation Syndrome Identified by Genome-wide Association Studies

BACKGROUND: Glaucoma is a neurodegenerative disease characterized by the progressive loss of retinal ganglion cells and optic nerve axons. According to its anatomical features, glaucoma is mainly subdivided into primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG). Exfoliation syndrome (XFS) and glaucoma (XFG) are characterized by the accumulation of extracellular materials in ocular tissues, particularly the lens surface and pupillary border. In addition to the two major forms of glaucoma, XFG is the most common cause of secondary open-angle glaucoma. Recent genome-wide association studies(GWASs) revealed genetic loci associated with each glaucoma subtype. METHODS: Review of literatures regarding GWASs for POAG, PACG and XFS. RESULTS: Several genetic loci were found to be independently associated with POAG, PACG, and XFS by large-scale GWASs. CONCLUSIONS: Genetic studies may not only provide a better understanding of the pathophysiological mechanisms underlying the diseases, but also facilitate the development of new drugs or treatments.