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Article

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.

Human molecular genetics - 1 Apr 2008

Spencer Kylee L, Hauser Michael A, Olson Lana M, Schmidt Silke, Scott William K, Gallins Paul, Agarwal Anita, Postel Eric A, Pericak-Vance Margaret A, Haines Jonathan L

Abstract excerpt

Age-related macular degeneration (AMD) impairs vision for approximately 7.5 million Americans. Both susceptibility variants and protective haplotypes in the complement factor H (CFH) gene modulate risk for AMD. Recently, deletion of the 'CFH-related' genes CFHR1 and CFHR3 was found to be segregating with a particular CFH haplotype, which reduced the risk of AMD. We tested the deletion for association in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18084039
DOI: 10.1093/hmg/ddm369

Genes

CFH
CFHR1
CFHR3

Provenance

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.

Related research

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Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.PMID 18084039Read ↗

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.Semantic proximity Read ↗

Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.Semantic proximity Read ↗

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.Semantic proximity Read ↗

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.Semantic proximity Read ↗

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.Semantic proximity Read ↗

Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration.Semantic proximity Read ↗

Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independentSemantic proximity Read ↗

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).Semantic proximity Read ↗

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.Semantic proximity Read ↗

Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.Semantic proximity Read ↗

Copy number variation in the complement factor H-related genes and age-related macular degeneration.Semantic proximity Read ↗

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

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