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Abstract #94622 Published in IGR 22-2
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images
Currant H; Hysi P; Fitzgerald TW; Gharahkhani P; Bonnemaijer PWM; Senabouth A; Hewitt AW; ; 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; Pébay 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; Khawaja APPLoS Genetics 2021; 17: e1009497
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.
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.
Full articleClassification:
6.9.2.2 Posterior (Part of: 6 Clinical examination methods > 6.9 Computerized image analysis > 6.9.2 Optical coherence tomography)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
2.13 Retina and retinal nerve fibre layer (Part of: 2 Anatomical structures in glaucoma)
