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Towards modifying the genetic predisposition for glaucoma: An overview of the contribution and interaction of genetic and environmental factors

Stuart, Kelsey V; Pasquale, Louis R; Kang, Jae H; Foster, Paul J; Khawaja, Anthony P; (2023) Towards modifying the genetic predisposition for glaucoma: An overview of the contribution and interaction of genetic and environmental factors. Molecular Aspects of Medicine , 93 , Article 101203. 10.1016/j.mam.2023.101203. Green open access

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Abstract

Glaucoma, the leading cause of irreversible blindness worldwide, is a complex human disease, with both genetic and environmental determinants. The availability of large-scale, population-based cohorts and biobanks, combining genotyping and detailed phenotyping, has greatly accelerated research into the aetiology of glaucoma in recent years. Hypothesis-free genome-wide association studies have furthered our understanding of the complex genetic architecture underpinning the disease, while epidemiological studies have provided advances in the identification and characterisation of environmental risk factors. It is increasingly recognised that the combined effects of genetic and environmental factors may confer a disease risk that reflects a departure from the simple additive effect of the two. These gene-environment interactions have been implicated in a host of complex human diseases, including glaucoma, and have several important diagnostic and therapeutic implications for future clinical practice. Importantly, the ability to modify the risk associated with a particular genetic makeup promises to lead to personalised recommendations for glaucoma prevention, as well as novel treatment approaches in years to come. Here we provide an overview of genetic and environmental risk factors for glaucoma, as well as reviewing the evidence and discussing the implications of gene-environment interactions for the disease.

Type: Article
Title: Towards modifying the genetic predisposition for glaucoma: An overview of the contribution and interaction of genetic and environmental factors
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.mam.2023.101203
Publisher version: https://doi.org/10.1016/j.mam.2023.101203
Language: English
Additional information: © 2023 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Keywords: Gene-environment interactions, Genetics, Glaucoma, Review, Risk factors
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10173613
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