Glaucoma is the leading cause of irreversible blindness in the world. Raised intraocular pressure (IOP) is the most important modifiable risk factor for primary open-angle glaucoma (POAG). Yet the mechanism underling IOP regulation is not yet understood. Prior to our study, genome-wide association studies (GWAS) had identified only a few genetic markers associated with IOP, explaining a tiny proportion of its variability.
We carried out a GWAS for IOP in over 100,000 European participants and identified 112 independent loci associated with IOP. These genetic markers explained 17% of the variance of IOP, which is huge considering the daily variation in IOP in individuals and measurement error which affects IOP readings. [Read more…]