@article {1593869,
	title = {Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images},
	journal = {PLoS Genet},
	volume = {17},
	number = {5},
	year = {2021},
	month = {2021 May},
	pages = {e1009497},
	abstract = {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.},
	issn = {1553-7404},
	doi = {10.1371/journal.pgen.1009497},
	author = {Currant, Hannah and Hysi, Pirro and Fitzgerald, Tomas W and Gharahkhani, Puya and Bonnemaijer, Pieter W M and Senabouth, Anne and Hewitt, Alex W and UK Biobank Eye and Vision Consortium and International Glaucoma Genetics Consortium and Atan, Denize and Aung, Tin and Charng, Jason and Choquet, H{\'e}l{\`e}ne and Craig, Jamie and Khaw, Peng T and Klaver, Caroline C W and Kubo, Michiaki and Ong, Jue-Sheng and Pasquale, Louis R and Reisman, Charles A and Daniszewski, Maciej and Powell, Joseph E and P{\'e}bay, Alice and Simcoe, Mark J and Thiadens, Alberta A H J and van Duijn, Cornelia M and Yazar, Seyhan and Jorgenson, Eric and Macgregor, Stuart and Hammond, Chris J and Mackey, David A and Wiggs, Janey L and Foster, Paul J and Patel, Praveen J and Birney, Ewan and Khawaja, Anthony P}
}
