Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population

Aims: To evaluate the complement factor H (CFH) p.402Y>H polymorphism as a risk factor in age related macular degeneration (AMD) in an Italian population. Methods: 104 unrelated Italian AMD patients and 131 unrelated controls were screened for the CFH polymorphism p.402Y>H (c.1277 T>C), whi...

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Bibliographic Details
Published in:British journal of ophthalmology 2006-09, Vol.90 (9), p.1142-1145
Main Authors: Simonelli, F, Frisso, G, Testa, F, di Fiore, R, Vitale, D F, Manitto, M P, Brancato, R, Rinaldi, E, Sacchetti, L
Format: Article
Language:English
Subjects:
Age
age related macular degeneration
Aged
Alleles
AMD
Biological and medical sciences
CFH
Clinical Science - Extended Report
Colleges & universities
complement factor H
Complement Factor H - genetics
Confidence intervals
Equilibrium
Female
Genes
Genetic Predisposition to Disease
Genotype
Humans
Italy
Macular degeneration
Macular Degeneration - genetics
Male
Medical sciences
Middle Aged
Miscellaneous
Ophthalmology
Polymorphism, Genetic
polymorphisms
Population
Risk Factors
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Summary:Aims: To evaluate the complement factor H (CFH) p.402Y>H polymorphism as a risk factor in age related macular degeneration (AMD) in an Italian population. Methods: 104 unrelated Italian AMD patients and 131 unrelated controls were screened for the CFH polymorphism p.402Y>H (c.1277 T>C), which has been associated with AMD. Retinography was obtained for patients and controls; the AMD diagnosis was confirmed by fluorescein angiograms. The c.1277 T>C polymorphism was genotyped with the TaqMan real time polymerase chain reaction single nucleotide polymorphism assay. Results: The frequency of c.1277C allele was higher in AMD patients than in controls (57.2% v 39.3%; pH (c.1277T>C) polymorphism and AMD applies to the Italian population and the CC genotype is more frequent in sporadic than in familial AMD cases.
ISSN:0007-1161
1468-2079
DOI:10.1136/bjo.2006.096487