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Article

Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.

Investigative ophthalmology & visual science - 3 Jun 2020

Hallam Thomas M, Marchbank Kevin J, Harris Claire L, Osmond Clive, Shuttleworth Victoria G, Griffiths Helen, Cree Angela J, Kavanagh David, Lotery Andrew J

Abstract excerpt

Purpose: Rare genetic variants in complement factor I (CFI) that cause low systemic levels of the protein (FI) have been reported as a strong risk factor for advanced age-related macular degeneration (AMD). This study set out to replicate these findings. Methods: FI levels were measured by sandwich ELISA in an independent cohort of 276 patients with AMD and 205 elderly controls. Single-nucleotide polymorphism...

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Identifiers

PMID: 32516404
DOI: 10.1167/iovs.61.6.18
PMCID: PMC7415286

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.PMID 32516404Read ↗

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