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

Détails

ID Serval
serval:BIB_BF4F2808F5B2
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism.
Périodique
British Journal of Ophthalmology
Auteur(s)
Droz I., Mantel I., Ambresin A., Faouzi M., Schorderet D.F., Munier F.L.
ISSN
0007-1161
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
92
Numéro
4
Pages
513-517
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Résumé
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]
Mots-clé
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
Oui
Création de la notice
05/05/2008 14:00
Dernière modification de la notice
20/08/2019 15:33
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