GWAS Identifies 44 Genes Linked to Glaucoma

An international consortium of researchers have identified 44 new gene loci and confirmed 83 previously reported loci linked to glaucoma, in a genome wide association study. The findings were published in Nature Communications.

"These new findings come out of the highest-powered genome-wide association study of glaucoma to date, and show the power of team science and using big data to answer questions when research groups around the world join forces," said co-senior study author Janey L. Wiggs, from Harvard Medical School. "The number of genes identified will lead to the discovery of new biological pathways that can lead to glaucoma, and in turn, new targets for therapeutics," added Wiggs.

A cross-ancestry comparison was performed looking at genetic data from people of European, African and Asian descent. The researchers found the majority of loci that contribute to glaucoma were consistent across all three groups. Previous studies had mostly looked at gene data from people of European descent.

"Glaucoma rates are highest in African and Asian ancestry groups, but the largest genetic studies of glaucoma in the past focused on people of European ancestry," said lead author Puya Gharahkhani, from the QIMR Berghofer Medical Research Institute in Australia. "Those studies showed genetic tests could be used to help identify who would benefit from sight-saving early monitoring or treatment, but because of the narrow scope of the genetic data, we weren't sure until now that the genetic indicators were true for people of different ancestries.

The cross-ancestry data improved fine-mapping of causal variants linked to glaucoma. By integrating multiple lines of genetic evidence, the researchers implicated previously unknown biological processes that might contribute to the development of the disease. Future initiatives for the research group will focus on using these genetic loci to improve screening and diagnosis of glaucoma, and one day, to develop new treatments.