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Article

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

Nature genetics - 1 Oct 2006

Hughes Anne E, Orr Nick, Esfandiary Hossein, Diaz-Torres Martha, Goodship Timothy, Chakravarthy Usha

Abstract excerpt

Age-related macular degeneration (AMD; OMIM #603075) is the most frequent cause of visual impairment in the elderly population, with severe disease affecting nearly 10% of individuals of European descent over the age of 75 years. It is a complex disease in which genetic and environmental factors contribute to susceptibility. Complement factor H (CFH) has recently been identified as a major AMD susceptibility...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16998489
DOI: 10.1038/ng1890

Genes

CFH
CFHR1
CFHR3

Variants

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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A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.PMID 16998489Read ↗

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 ↗

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.Semantic proximity Read ↗

Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.Semantic proximity Read ↗

Complement factor H variant increases the risk of age-related macular degeneration.Semantic proximity Read ↗

Complement factor H polymorphism in age-related macular degeneration.Semantic proximity Read ↗

CFH haplotypes without the Y402H coding variant show strong association with 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 ↗

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

Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.Semantic proximity Read ↗

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to 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 ↗

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

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