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Glaucoma genetics: Can we predict who will get glaucoma, and response to treatment?
Author(s) -
Hammond Chris
Publication year - 2019
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2019.8134
Subject(s) - glaucoma , genome wide association study , intraocular pressure , medicine , normal tension glaucoma , biobank , pharmacogenomics , ophthalmology , bioinformatics , genetics , single nucleotide polymorphism , biology , open angle glaucoma , genotype , pharmacology , gene
Few environmental risk factors are known for glaucoma, in contrast to other common age‐related eye diseases such as AMD and cataract. With the advent of genome‐wide association studies (GWAS), we are increasingly understanding the importance of genetic factors influencing risk of glaucoma. This presentation will discuss results from the largest GWAS of intraocular pressure from the UK Biobank study of over 100 000 people, showing that ~700 common genetic risk variants can predict risk of glaucoma, with an AUC (area under the curve) for high‐tension glaucoma of 0.75 and for normal tension glaucoma of 0.70. Pharmacogenomics is an increasingly important arena, and I will present novel work in large population‐based studies exploring the prediction of response to prostaglandin agonists using genetics. The International Glaucoma Genetics Consortium GWAS of over 30 000 people with glaucoma and 300,000 controls is currently being analysed and preliminary results will be discussed.