Genetic variation affects morphological retinal phenotypes extracted from UK Biobank Optical Coherence Tomography images
Tomas W Fitzgerald,
Pieter W M Bonnemaijer,
UK Biobank Eye and Vision Consortium,
International Glaucoma Genetics Consortium,
Alex W Hewitt,
Peng T. Khaw,
Caroline C W Klaver,
Louis R. Pasquale,
Charles A Reisman,
Mark J Simcoe,
Alberta A H J Thiadens,
Cornelia M. van Duijn,
Chris J Hammond,
Janey L. Wiggs,
Paul J Foster,
Praveen J Patel,
Anthony P. Khawaja
Posted 26 Jul 2020
medRxiv DOI: 10.1101/2020.07.20.20157180
Posted 26 Jul 2020
Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is often used to diagnose and manage multiple ophthalmic diseases including glaucoma. We present the first large-scale quantitative 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 previously been associated with glaucoma, and Mendelian randomisation confirms that inner retinal thickness, despite being a valid biomarker for the disease, is not on the same genetic causal pathway as glaucoma. Image analysis methods were used to extract overall retinal thickness at the fovea, representative of hypoplasia, with which three out of the 46 SNPs were associated. These SNPs have been previously linked with pigmentation, confirmed by their association with hair colour in the UK Biobank dataset. We additionally associate these three loci with visual acuity. In contrast to the already known Mendelian causes of severe foveal hypoplasia, our results suggest a previously unknown spectrum of foveal hypoplasia in the population, in part genetically determined, that has consequences on visual function.
- Downloaded 1,318 times
- Download rankings, all-time:
- Site-wide: 24,934
- In genetic and genomic medicine: 143
- Year to date:
- Site-wide: 92,406
- Since beginning of last month:
- Site-wide: 119,885
Downloads over time
Distribution of downloads per paper, site-wide
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!