Current Development in Genome Wide Association Studies of Glaucoma

Purpose of review Glaucoma is the leading and most common cause of irreversible visual impairment and blindness. Despite its heterogeneous causes, there is strong evidence arguing for a hereditable basis underlying glaucoma pathogenesis. We aim to discuss in this review genetic determinants underlying glaucoma which have been discovered using genome-wide association studies and the biological insights gained from them. Recent findings More than 20 genetic loci have been discovered by GWAS of increasing sample size and statistical power for the different forms of glaucoma. These findings definitively implicate the involvement of previously undescribed pathways in the disease process of glaucomatous optic nerve damage. Summary Collectively, data from these large scale GWAS have illuminated the disease biology of glaucoma and has helped to focus future research towards translating biological insights to biological mechanisms and development of effective drugs and therapies to prevent glaucoma.