Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism.

Details

Serval ID
serval:BIB_BF4F2808F5B2
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism.
Journal
British Journal of Ophthalmology
Author(s)
Droz I., Mantel I., Ambresin A., Faouzi M., Schorderet D.F., Munier F.L.
ISSN
0007-1161
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
92
Number
4
Pages
513-517
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Abstract
BACKGROUND/AIMS: Complement factor H (CFH) Y402H polymorphism shows a strong association with age-related macular degeneration (AMD). Although the phenotypic concordance of AMD has been shown in sibling / twin studies, little is known about the genotype-phenotype association. In this study, we investigated whether CFH Y402H is associated with early phenotypic features. METHODS: Statistical analysis was performed on 420 AMD cases with complete clinical and genetic data (graded colour fundus photographs, according to the International Classification and Grading System for AMD and successful testing for CFH Y402H). RESULTS: In this Swiss population, an odds ratio (OR) of 2.95 was confirmed for AMD in the presence of at least one risk C-allele and OR of 9.05 for the CC-homozygotes, corrected for age and sex. No difference was found between the AMD stages. Patients homozygous for the risk-allele showed significant association with peripheral drusen [p=0.028]and for central drusen location [p=0.049]. No trend was found for other drusen criteria (size, total surface, location nasal to disc) and for pigmentary changes. CONCLUSIONS: The CFH Y402H polymorphism showed a genotype-phenotype association for some drusen features. Additional genetic factors are likely to influence drusen phenotype. [Authors]
Keywords
Aged, Choroidal Neovascularization/genetics, Complement Factor H/genetics, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Macular Degeneration/complications, Macular Degeneration/genetics, Male, Phenotype, Polymorphism, Genetic, Retinal Drusen/etiology, Retinal Drusen/genetics
Pubmed
Web of science
Open Access
Yes
Create date
05/05/2008 14:00
Last modification date
20/08/2019 15:33
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