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Article

Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration.

American journal of human genetics - 1 May 2025

Holleman Aaron M, Deaton Aimee M, Hoffing Rachel A, Krohn Lynne, LoGerfo Philip, Nioi Paul, Plekan Mollie E, Akle Serrano Sebastian, Ticau Simina, Walshe Tony E, Borodovsky Anna, Ward Lucas D

Abstract excerpt

Age-related macular degeneration (AMD) is a leading cause of blindness among older adults worldwide, but treatment options are limited. Genetics studies have implicated the CFH locus, containing CFH and five CFHR genes, CFHR1-5, in AMD. While CFH has been robustly linked with AMD risk, potential additional roles for the CFHR genes remain unclear, obscured by strong linkage disequilibrium across the locus....

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Share to Complement C3b Inactivator Proteins
Share to Complement Factor H

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Exome Sequencing

Share to Linkage Disequilibrium

Share to Loss of Function Mutation

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Share to Mutation, Missense

Source

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Identifiers

PMID: 40250423
DOI: 10.1016/j.ajhg.2025.03.016
PMCID: PMC12120177

Genes

CFH
CFHR5
CFHR1
MAF

Variants

rs1061170

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration.PMID 40250423Read ↗

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