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

doi:10.1371/journal.pgen.1009497

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Article

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

PLoS genetics - 1 May 2021

Currant Hannah, Hysi Pirro, Fitzgerald Tomas W, Gharahkhani Puya, Bonnemaijer Pieter W M, Senabouth Anne, Hewitt Alex W, Atan Denize, Aung Tin, Charng Jason, Choquet Hélène, Craig Jamie, Khaw Peng T, Klaver Caroline C W, Kubo Michiaki, Ong Jue-Sheng, Pasquale Louis R, Reisman Charles A, Daniszewski Maciej, Powell Joseph E, Pébay Alice, Simcoe Mark J, Thiadens Alberta A H J, van Duijn Cornelia M, Yazar Seyhan, Jorgenson Eric, MacGregor Stuart, Hammond Chris J, Mackey David A, Wiggs Janey L, Foster Paul J, Patel Praveen J, Birney Ewan, Khawaja Anthony P

Abstract excerpt

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...

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PMID: 33979322
DOI: 10.1371/journal.pgen.1009497
PMCID: PMC8143408

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