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Article

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

Investigative ophthalmology & visual science - 1 Oct 2015

Triebwasser Michael P, Roberson Elisha D O, Yu Yi, Schramm Elizabeth C, Wagner Erin K, Raychaudhuri Soumya, Seddon Johanna M, Atkinson John P

Abstract excerpt

PURPOSE: Age-related macular degeneration (AMD) has a substantial genetic risk component, as evidenced by the risk from common genetic variants uncovered in the first genome-wide association studies. More recently, it has become apparent that rare genetic variants also play an independent role in AMD risk. We sought to determine if rare variants in complement factor H (CFH) played a role in AMD risk. METHODS: We...

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Identifiers

PMID: 26501415
DOI: 10.1167/iovs.15-17432
PMCID: PMC4627248

Genes

CFH
CFI

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Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.PMID 26501415Read ↗

Complement factor H polymorphism in 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 ↗

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

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The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.Semantic proximity Read ↗

Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.Semantic proximity Read ↗

Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.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 ↗

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.Semantic proximity Read ↗

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.Semantic proximity Read ↗

Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden and lower antigenic levels in familial AMDSemantic proximity Read ↗

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

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