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Glaucoma: 133 genetic variants identified that may predict risk

A study from the UK Biobank Eye and Vision Consortium and the NEIGHBORHOOD Consortium has identified 133 genetic variants that could help predict the risk of developing glaucoma.

The research team conducted the largest genome-wide association study (GWAS) of intraocular pressure (IOP) to date, in 139,555 participants from 3 cohorts: UK Biobank, EPIC-Norfolk and the previously reported combined results from 14 European studies in the International Glaucoma Genetics Consortium (IGGC). Additionally, they examined associations of 120 significant IOP loci with glaucoma among independent UK Biobank participants (not included in the IOP discovery GWAS) and with clinically diagnosed primary open-angle glaucoma among participants in the large multicentre case-control NEIGHBORHOOD study.

The GWAS identified 112 genomic loci associated with IOP, 68 of which are novel. The loci suggest a strong role for angiopoietin-receptor tyrosine kinase signalling, lipid metabolism, mitochondrial function and developmental processes underlying the risk for elevated IOP. In addition, 48 of the loci were nominally associated with glaucoma in an independent cohort, 14 of which were significant. Regression-based glaucoma-prediction models had an area under the receiver operating characteristic curve of 0.74 in independent glaucoma cases from the UK Biobank.

“Given that there is currently no adequate population screening test for glaucoma, and half of all community glaucoma cases are undiagnosed, genetic prediction models offer an opportunity for improved case detection, earlier treatment and prevention of morbidity from the leading cause of irreparable blindness,” the authors say.

“The genetic loci identified in this study not only increase understanding of the pathways involved in IOP and glaucoma but also open the possibility of using genetic markers to improve disease screening or even prediction of the natural history of disease in people at risk of glaucoma,” they add.


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