Variants associated with myopia and glaucoma

Genetic variants associated with disorders of the eye, myopia and glaucoma, are reported this week in Nature Genetics.

Myopia — or nearsightedness — is on the spectrum of refractive errors, which are the most common cause of visual impairment. Glaucoma is a chronic degenerative disease and a leading cause of irreversible blindness worldwide.

Gudmar Thorleifsson and colleagues report a genome-wide association study for primary open angle glaucoma (POAG) in 1,263 cases from Iceland, with replication in studies from Europe, Australia, and east Asia. They identify one genomic region associated with POAG, which is near two candidate genes CAV1 and CAV2 that have suggested roles in signal transduction and as regulators of adult neural stem cell proliferation.

Caroline Klaver and colleagues report a genome-wide association study for refractive errors in 5,328 individuals from a Dutch population-based study. They identify one genomic region associated with refractive error and myopia, highlighting two candidate genes that are expressed in the retina. In an accompanying study, Christopher Hammond and colleagues report a genome-wide association study for refractive errors in 4,270 individuals from the United Kingdom. These authors identify a single genomic region associated with refractive error and myopia, which includes a gene that is highly expressed in neurons and retina, and is suggested to be involved with maintenance of retina function.