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Article

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.

Human molecular genetics - 23 Aug 2022

Tzoumas Nikolaos, Kavanagh David, Cordell Heather J, Lotery Andrew J, Patel Praveen J, Steel David H

Abstract excerpt

To evaluate potential diagnostic and therapeutic biomarkers for age-related macular degeneration (AMD), we identified 8433 UK Biobank participants with rare complement Factor I gene (CFI) variants, 579 with optical coherence tomography-derived macular thickness data. We stratified these variants by predicted gene expression and measured their association with retinal pigment epithelium-Bruch's membrane (RPE-BM)...

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Identifiers

PMID: 35285476
DOI: 10.1093/hmg/ddac060
PMCID: PMC9402241

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