Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
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 Bi...
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2021
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oai:doaj.org-article:4fbf3860d58c43b3bbd68818f972b31d2021-11-25T05:51:21ZGenetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.1553-73901553-740410.1371/journal.pgen.1009497https://doaj.org/article/4fbf3860d58c43b3bbd68818f972b31d2021-05-01T00:00:00Zhttps://doi.org/10.1371/journal.pgen.1009497https://doaj.org/toc/1553-7390https://doaj.org/toc/1553-7404Optical 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.Hannah CurrantPirro HysiTomas W FitzgeraldPuya GharahkhaniPieter W M BonnemaijerAnne SenabouthAlex W HewittUK Biobank Eye and Vision ConsortiumInternational Glaucoma Genetics ConsortiumDenize AtanTin AungJason CharngHélène ChoquetJamie CraigPeng T KhawCaroline C W KlaverMichiaki KuboJue-Sheng OngLouis R PasqualeCharles A ReismanMaciej DaniszewskiJoseph E PowellAlice PébayMark J SimcoeAlberta A H J ThiadensCornelia M van DuijnSeyhan YazarEric JorgensonStuart MacGregorChris J HammondDavid A MackeyJaney L WiggsPaul J FosterPraveen J PatelEwan BirneyAnthony P KhawajaPublic Library of Science (PLoS)articleGeneticsQH426-470ENPLoS Genetics, Vol 17, Iss 5, p e1009497 (2021) |
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Genetics QH426-470 |
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Genetics QH426-470 Hannah Currant Pirro Hysi Tomas W Fitzgerald Puya Gharahkhani Pieter W M Bonnemaijer Anne Senabouth Alex W Hewitt UK Biobank Eye and Vision Consortium International Glaucoma Genetics Consortium Denize Atan Tin Aung Jason Charng Hélène Choquet Jamie Craig Peng T Khaw Caroline C W Klaver Michiaki Kubo Jue-Sheng Ong Louis R Pasquale Charles A Reisman Maciej Daniszewski Joseph E Powell Alice Pébay Mark J Simcoe Alberta A H J Thiadens Cornelia M van Duijn Seyhan Yazar Eric Jorgenson Stuart MacGregor Chris J Hammond David A Mackey Janey L Wiggs Paul J Foster Praveen J Patel Ewan Birney Anthony P Khawaja Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. |
| description |
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. |
| format |
article |
| author |
Hannah Currant Pirro Hysi Tomas W Fitzgerald Puya Gharahkhani Pieter W M Bonnemaijer Anne Senabouth Alex W Hewitt UK Biobank Eye and Vision Consortium International Glaucoma Genetics Consortium Denize Atan Tin Aung Jason Charng Hélène Choquet Jamie Craig Peng T Khaw Caroline C W Klaver Michiaki Kubo Jue-Sheng Ong Louis R Pasquale Charles A Reisman Maciej Daniszewski Joseph E Powell Alice Pébay Mark J Simcoe Alberta A H J Thiadens Cornelia M van Duijn Seyhan Yazar Eric Jorgenson Stuart MacGregor Chris J Hammond David A Mackey Janey L Wiggs Paul J Foster Praveen J Patel Ewan Birney Anthony P Khawaja |
| author_facet |
Hannah Currant Pirro Hysi Tomas W Fitzgerald Puya Gharahkhani Pieter W M Bonnemaijer Anne Senabouth Alex W Hewitt UK Biobank Eye and Vision Consortium International Glaucoma Genetics Consortium Denize Atan Tin Aung Jason Charng Hélène Choquet Jamie Craig Peng T Khaw Caroline C W Klaver Michiaki Kubo Jue-Sheng Ong Louis R Pasquale Charles A Reisman Maciej Daniszewski Joseph E Powell Alice Pébay Mark J Simcoe Alberta A H J Thiadens Cornelia M van Duijn Seyhan Yazar Eric Jorgenson Stuart MacGregor Chris J Hammond David A Mackey Janey L Wiggs Paul J Foster Praveen J Patel Ewan Birney Anthony P Khawaja |
| author_sort |
Hannah Currant |
| title |
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. |
| title_short |
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. |
| title_full |
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. |
| title_fullStr |
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. |
| title_full_unstemmed |
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. |
| title_sort |
genetic variation affects morphological retinal phenotypes extracted from uk biobank optical coherence tomography images. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2021 |
| url |
https://doaj.org/article/4fbf3860d58c43b3bbd68818f972b31d |
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