GWAS on retinal vasculometry phenotypes

The eye is the window through which light is transmitted and visual sensory signalling originates. It is also a window through which elements of the cardiovascular and nervous systems can be directly inspected, using ophthalmoscopy or retinal imaging. Measurements of ocular parameters may therefore...

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Published in:PLoS genetics Vol. 19; no. 2; p. e1010583
Main Authors: Jiang, Xiaofan, Hysi, Pirro G., Khawaja, Anthony P., Mahroo, Omar A., Xu, Zihe, Hammond, Christopher J., Foster, Paul J., Welikala, Roshan A., Barman, Sarah A., Whincup, Peter H., Rudnicka, Alicja R., Owen, Christopher G., Strachan, David P.
Format: Journal Article
Language:English
Published: United States Public Library of Science 09.02.2023
Public Library of Science (PLoS)
Subjects:
Automation
Biobanks
Biology and Life Sciences
Blood pressure
Blood-vessels
Cameras
Cellular signal transduction
Cohort analysis
Consortia
Genetic aspects
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genomics
Haplotypes
Health services
Homeostasis
Informed consent
Medicine and Health Sciences
Metabolism
Morphology
Phenotype
Phenotypes
Physiological aspects
Questionnaires
Research ethics
Retina
Retinal Vessels
Risk Factors
Veins & arteries
United Kingdom
United Kingdom > UK
Japan
ISSN:1553-7404, 1553-7390, 1553-7404
Online Access:Get full text
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Summary:The eye is the window through which light is transmitted and visual sensory signalling originates. It is also a window through which elements of the cardiovascular and nervous systems can be directly inspected, using ophthalmoscopy or retinal imaging. Measurements of ocular parameters may therefore offer important information on the physiology and homeostasis of these two important systems. Here we report the results of a genetic characterisation of retinal vasculature. Four genome-wide association studies performed on different aspects of retinal vasculometry phenotypes, such as arteriolar and venular tortuosity and width, found significant similarities between retinal vascular characteristics and cardiometabolic health. Our analyses identified 119 different regions of association with traits of retinal vasculature, including 89 loci associated arteriolar tortuosity, the strongest of which was rs35131825 ( p = 2.00×10 −108 ), 2 loci with arteriolar width (rs12969347, p = 3.30×10 −09 and rs5442, p = 1.9E-15), 17 other loci associated with venular tortuosity and 11 novel associations with venular width. Our causal inference analyses also found that factors linked to arteriolar tortuosity cause elevated diastolic blood pressure and not vice versa.
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Membership of UK Biobank Eye and Vision Consortium is provided in Supporting Information file S1_Acknowledgments.
We have read the journal’s policy and the authors of this manuscript have the following competing interests: APK has consulted for the following companies: Abbvie, Aerie, Google Health, Novartis, Reichert, Santen and Thea. CJH has consulted for Nevakar Inc.
ISSN:1553-7404
1553-7390
1553-7404
DOI:10.1371/journal.pgen.1010583