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New evidence supports genetic basis of glaucoma

Published online 14 May 2016

A worldwide study of human genomes has found evidence of the association of five new gene locations with glaucoma.

Nadia El-Awady

An international team of scientists analysed the genomes of 40,000 people spanning five continents; one-fourth of whom had a form of an eye disease, called glaucoma, which causes increased pressure inside the eye. By sifting through the genes of the glaucoma patients and comparing them with those of the non-affected group of people, the team found a significant association between five gene locations and the disease1.

They also confirmed the association of three other gene locations reported in a previous study with the disease.

Glaucoma is the most common cause of irreversible blindness worldwide. One of its three main forms, primary angle closure glaucoma (PACG), the form investigated in this study, affects 15 million people worldwide, 80% of whom live in Asia.

“Knowing the genes that cause PACG may enable us to better identify patients at-risk of disease and might even help identify drug targets for future therapy,” says geneticist Chiea Chuen Khor from the Genome Institute of Singapore.

The team found that the gene with the strongest association with PACG was much more strongly associated with the disease in Asians than in Europeans. They were also surprised to find that another gene, also more common in Asians, implicated a certain pathway of disease, which could be exacerbated by medications currently in use to treat it.

The next steps involve studying the effects of these genes on the tissues of patients suffering from PACG.


  1. Khor, C. C. et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat. Genet. 48, 556–562 (2016).