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


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Currant, H, Hysi, P, Fitzgerald, TW, Gharahkhani, P, Bonnemaijer, PWM, Senabouth, A, Hewitt, A ORCID: 0000-0002-5123-5999, Atan, D, Aung, T, Charng, J, Choquet, H, Craig, J, Khaw, PT, Klaver, CCW, Kubo, M, Ong, JS, Pasquale, LR, Reisman, CA, Daniszewski, M, Powell, JE, Pebay, A, Simcoe, MJ, Thiadens, AAHJ, van Duijn, CM, Yazar, S, Jorgenson, E, MacGregor, S, Hammond, CJ, Mackey, DA, Wiggs, JL, Foster, PJ, Patel, PJ, Birney, E and Khawaja, AP 2021 , 'Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images' , PLoS Genetics, vol. 17, no. 5 , pp. 1-27 , doi: 10.1371/journal.pgen.1009497.

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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 Type: Article
Authors/Creators: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
Journal or Publication Title: PLoS Genetics
Publisher: Public Library of Science
ISSN: 1553-7390
DOI / ID Number: 10.1371/journal.pgen.1009497
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© 2021 Currant et al. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

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