Glaucoma Screening: New genetic risks for glaucoma are identified

A team of international researchers has discovered three new genetic risk factors associated with the most common form of glaucoma.


Scientists found that variations in the genes TXNRD2, ATXN2 and FOXC1 are associated with primary open-angle glaucoma (POAG) and present novel targets for screening, prevention and treatment.


The study, which was published in Nature Genetics and part-funded by Fight for Sight, saw a meta-analysis of data taken from eight independent studies in the US, four from Europe, one from Australia and one Singaporean/Chinese study. Data was analysed for 7,000 cases of POAG, with 42,000 controls included, primarily from people with white European ancestry.


Dr Pirro Hysi, a genetic epidemiologist at King’s College London, who participated in the study through the support of a Fight for Sight Early Career Investigator Award, said: “Our results suggest new pathways in eye development, neuro-degeneration and mitochondrial dysfunction that may contribute to the risk of developing glaucoma. Targeting these pathways could lead to effective treatment and perhaps strategies for early detection and prevention of this common form of glaucoma.”


Study findings link the gene FOXC1 to common adult-onset glaucoma for the first time, while neither ATXN2 nor TXNRD2 had been previously linked to any glaucoma-type trait. However, it is believed that ATXN2 may be involved in neuro-degeneration.


Commenting on the study, director of research at Fight for Sight, Dr Dolores M Conroy (pictured), said: “Genome-wide association studies such as this one are really important for driving research forward in a direction that’s important to patients and people affected by sight loss.”


She added: “We know from the Sight Loss and Vision Priority Setting Partnership that people want to know how glaucoma can be prevented and also who is at higher risk. Understanding the genetic causes of glaucoma is a significant step towards both.”



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