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Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images


Currant, H and Hysi, P and Fitzgerald, TW and Gharahkhani, P and Bonnemaijer, PWM and Senabouth, A and Hewitt, A and Atan, D and Aung, T and Charng, J and Choquet, H and Craig, J and Khaw, PT and Klaver, CCW and Kubo, M and Ong, JS and Pasquale, LR and Reisman, CA and Daniszewski, M and Powell, JE and Pebay, A and Simcoe, MJ and Thiadens, AAHJ and van Duijn, CM and Yazar, S and Jorgenson, E and MacGregor, S and Hammond, CJ and Mackey, DA and Wiggs, JL and Foster, PJ and Patel, PJ and Birney, E and Khawaja, AP, UK Biobank Eye and Vision Consortium and Glaucoma Genetics Consortium, Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images, PLoS Genetics, 17, (5) pp. 1-27. ISSN 1553-7390 (2021) [Refereed Article]


Copyright Statement

2021 Currant et al. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1371/journal.pgen.1009497


Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer. Only one of these loci has been associated with glaucoma, and despite its clear role as a biomarker for the disease, Mendelian randomisation does not support inner retinal thickness being on the same genetic causal pathway as glaucoma. We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were associated. We additionally associate these three loci with visual acuity. In contrast to the Mendelian causes of severe foveal hypoplasia, our results suggest a spectrum of foveal hypoplasia, in part genetically determined, with consequences on visual function.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Diagnosis of human diseases and conditions
UTAS Author:Hewitt, A (Professor Alex Hewitt)
ID Code:146327
Year Published:2021
Web of Science® Times Cited:7
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-08-31
Last Modified:2021-09-08
Downloads:16 View Download Statistics

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