Multi-omic spatial effects on high-resolution AI-derived retinal thickness
Abstract Retinal thickness is a marker of retinal health and more broadly, is seen as a promising biomarker for many systemic diseases. Retinal thickness measurements are procured from optical coherence tomography (OCT) as part of routine clinical eyecare. We processed the UK Biobank OCT images usin...
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| Format: | Article |
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Nature Portfolio
2025-02-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-024-55635-7 |
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| author | V. E. Jackson Y. Wu R. Bonelli J. P. Owen L. W. Scott S. Farashi Y. Kihara M. L. Gantner C. Egan K. M. Williams B. R. E. Ansell A. Tufail A. Y. Lee M. Bahlo |
| author_facet | V. E. Jackson Y. Wu R. Bonelli J. P. Owen L. W. Scott S. Farashi Y. Kihara M. L. Gantner C. Egan K. M. Williams B. R. E. Ansell A. Tufail A. Y. Lee M. Bahlo |
| author_sort | V. E. Jackson |
| collection | DOAJ |
| description | Abstract Retinal thickness is a marker of retinal health and more broadly, is seen as a promising biomarker for many systemic diseases. Retinal thickness measurements are procured from optical coherence tomography (OCT) as part of routine clinical eyecare. We processed the UK Biobank OCT images using a convolutional neural network to produce fine-scale retinal thickness measurements across > 29,000 points in the macula, the part of the retina responsible for human central vision. The macula is disproportionately affected by high disease burden retinal disorders such as age-related macular degeneration and diabetic retinopathy, which both involve metabolic dysregulation. Analysis of common genomic variants, metabolomic, blood and immune biomarkers, disease PheCodes and genetic scores across a fine-scale macular thickness grid, reveals multiple novel genetic loci including four on the X chromosome; retinal thinning associated with many systemic disorders including multiple sclerosis; and multiple associations to correlated metabolites that cluster spatially in the retina. We highlight parafoveal thickness to be particularly susceptible to systemic insults. These results demonstrate the gains in discovery power and resolution achievable with AI-leveraged analysis. Results are accessible using a bespoke web interface that gives full control to pursue findings. |
| format | Article |
| id | doaj-art-a63597c30a6c42e187b408080c85ab75 |
| institution | Kabale University |
| issn | 2041-1723 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj-art-a63597c30a6c42e187b408080c85ab752025-02-09T12:44:29ZengNature PortfolioNature Communications2041-17232025-02-0116111910.1038/s41467-024-55635-7Multi-omic spatial effects on high-resolution AI-derived retinal thicknessV. E. Jackson0Y. Wu1R. Bonelli2J. P. Owen3L. W. Scott4S. Farashi5Y. Kihara6M. L. Gantner7C. Egan8K. M. Williams9B. R. E. Ansell10A. Tufail11A. Y. Lee12M. Bahlo13Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, ParkvilleDepartment of Ophthalmology, Roger and Angie Karalis Johnson Retina Center, University of WashingtonPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, ParkvilleDepartment of Ophthalmology, Roger and Angie Karalis Johnson Retina Center, University of WashingtonPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, ParkvillePopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, ParkvilleDepartment of Ophthalmology, Roger and Angie Karalis Johnson Retina Center, University of WashingtonLowy Medical Research InstituteMoorfields Eye Hospital NHS Foundation TrustMoorfields Eye Hospital NHS Foundation TrustPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, ParkvilleMoorfields Eye Hospital NHS Foundation TrustDepartment of Ophthalmology, Roger and Angie Karalis Johnson Retina Center, University of WashingtonPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, ParkvilleAbstract Retinal thickness is a marker of retinal health and more broadly, is seen as a promising biomarker for many systemic diseases. Retinal thickness measurements are procured from optical coherence tomography (OCT) as part of routine clinical eyecare. We processed the UK Biobank OCT images using a convolutional neural network to produce fine-scale retinal thickness measurements across > 29,000 points in the macula, the part of the retina responsible for human central vision. The macula is disproportionately affected by high disease burden retinal disorders such as age-related macular degeneration and diabetic retinopathy, which both involve metabolic dysregulation. Analysis of common genomic variants, metabolomic, blood and immune biomarkers, disease PheCodes and genetic scores across a fine-scale macular thickness grid, reveals multiple novel genetic loci including four on the X chromosome; retinal thinning associated with many systemic disorders including multiple sclerosis; and multiple associations to correlated metabolites that cluster spatially in the retina. We highlight parafoveal thickness to be particularly susceptible to systemic insults. These results demonstrate the gains in discovery power and resolution achievable with AI-leveraged analysis. Results are accessible using a bespoke web interface that gives full control to pursue findings.https://doi.org/10.1038/s41467-024-55635-7 |
| spellingShingle | V. E. Jackson Y. Wu R. Bonelli J. P. Owen L. W. Scott S. Farashi Y. Kihara M. L. Gantner C. Egan K. M. Williams B. R. E. Ansell A. Tufail A. Y. Lee M. Bahlo Multi-omic spatial effects on high-resolution AI-derived retinal thickness Nature Communications |
| title | Multi-omic spatial effects on high-resolution AI-derived retinal thickness |
| title_full | Multi-omic spatial effects on high-resolution AI-derived retinal thickness |
| title_fullStr | Multi-omic spatial effects on high-resolution AI-derived retinal thickness |
| title_full_unstemmed | Multi-omic spatial effects on high-resolution AI-derived retinal thickness |
| title_short | Multi-omic spatial effects on high-resolution AI-derived retinal thickness |
| title_sort | multi omic spatial effects on high resolution ai derived retinal thickness |
| url | https://doi.org/10.1038/s41467-024-55635-7 |
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