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Article

Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish.

Investigative ophthalmology & visual science - 2 Aug 2022

Waksmunski Andrea R, Miskimen Kristy, Song Yeunjoo E, Grunin Michelle, Laux Renee, Fuzzell Denise, Fuzzell Sarada, Adams Larry D, Caywood Laura, Prough Michael, Stambolian Dwight, Scott William K, Pericak-Vance Margaret A, Haines Jonathan L

Abstract excerpt

Purpose: Genetic variants in the complement factor H gene (CFH) have been consistently implicated in age-related macular degeneration (AMD) risk. However, their functional effects are not fully characterized. We previously identified a rare, AMD-associated variant in CFH (P503A, rs570523689) in 19 Amish individuals, but its functional consequences were not investigated. Methods: We performed genotyping for CFH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35930268
DOI: 10.1167/iovs.63.9.8
PMCID: PMC9363678

Genes

CFH
CRP

Variants

rs570523689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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