Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort

Abstract To evaluate the influence AMD risk genomic variants have on macular thickness in the normal population. UK Biobank participants with no significant ocular history were included using the UK Biobank Resource (project 2112). Spectral-domain optical coherence tomography (SD-OCT) images were ta...

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Autores principales:	Rebecca A. Kaye, Karina Patasova, Praveen J. Patel, Pirro Hysi, Andrew J. Lotery, The UK Biobank Eye and Vision Consortium
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/37ff147fecd04efb94f0bab3b28719e3
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spelling	oai:doaj.org-article:37ff147fecd04efb94f0bab3b28719e32021-12-05T12:14:34ZMacular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort10.1038/s41598-021-02631-22045-2322https://doaj.org/article/37ff147fecd04efb94f0bab3b28719e32021-12-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-02631-2https://doaj.org/toc/2045-2322Abstract To evaluate the influence AMD risk genomic variants have on macular thickness in the normal population. UK Biobank participants with no significant ocular history were included using the UK Biobank Resource (project 2112). Spectral-domain optical coherence tomography (SD-OCT) images were taken and segmented to define retinal layers. The influence of AMD risk single-nucleotide polymorphisms (SNP) on retinal layer thickness was analysed. AMD risk associated SNPs were strongly associated with outer-retinal layer thickness. The inner-segment outer segment (ISOS)-retinal pigment epithelium (RPE) thickness measurement, representing photoreceptor outer segments was most significantly associated with the cumulative polygenic risk score, composed of 33 AMD-associated variants, resulting in a decreased thickness (p = 1.37 × 10–67). Gene–gene interactions involving the NPLOC4-TSPAN10 SNP rs6565597 were associated with significant changes in outer retinal thickness. Thickness of outer retinal layers is highly associated with the presence of risk AMD SNPs. Specifically, the ISOS-RPE measurement. Changes to ISOS-RPE thickness are seen in clinically normal individuals with AMD risk SNPs suggesting structural changes occur at the macula prior to the onset of disease symptoms or overt clinical signs.Rebecca A. KayeKarina PatasovaPraveen J. PatelPirro HysiAndrew J. LoteryThe UK Biobank Eye and Vision ConsortiumNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Rebecca A. Kaye Karina Patasova Praveen J. Patel Pirro Hysi Andrew J. Lotery The UK Biobank Eye and Vision Consortium Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort
description	Abstract To evaluate the influence AMD risk genomic variants have on macular thickness in the normal population. UK Biobank participants with no significant ocular history were included using the UK Biobank Resource (project 2112). Spectral-domain optical coherence tomography (SD-OCT) images were taken and segmented to define retinal layers. The influence of AMD risk single-nucleotide polymorphisms (SNP) on retinal layer thickness was analysed. AMD risk associated SNPs were strongly associated with outer-retinal layer thickness. The inner-segment outer segment (ISOS)-retinal pigment epithelium (RPE) thickness measurement, representing photoreceptor outer segments was most significantly associated with the cumulative polygenic risk score, composed of 33 AMD-associated variants, resulting in a decreased thickness (p = 1.37 × 10–67). Gene–gene interactions involving the NPLOC4-TSPAN10 SNP rs6565597 were associated with significant changes in outer retinal thickness. Thickness of outer retinal layers is highly associated with the presence of risk AMD SNPs. Specifically, the ISOS-RPE measurement. Changes to ISOS-RPE thickness are seen in clinically normal individuals with AMD risk SNPs suggesting structural changes occur at the macula prior to the onset of disease symptoms or overt clinical signs.
format	article
author	Rebecca A. Kaye Karina Patasova Praveen J. Patel Pirro Hysi Andrew J. Lotery The UK Biobank Eye and Vision Consortium
author_facet	Rebecca A. Kaye Karina Patasova Praveen J. Patel Pirro Hysi Andrew J. Lotery The UK Biobank Eye and Vision Consortium
author_sort	Rebecca A. Kaye
title	Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort
title_short	Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort
title_full	Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort
title_fullStr	Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort
title_full_unstemmed	Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort
title_sort	macular thickness varies with age-related macular degeneration genetic risk variants in the uk biobank cohort
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/37ff147fecd04efb94f0bab3b28719e3
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Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort

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