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Title: Association of complement factor H Y402H polymorphism and age-related macular degeneration in Brazilian patients
Authors: Teixeira, Anderson G. [UNIFESP]
Silva, Aldacilene S.
Lin, Fabio L. H.
Velletri, Roberta [UNIFESP]
Bavia, Lorena
Belfort, Rubens Junior [UNIFESP]
Isaac, Lourdes
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Keywords: age-related macular degeneration
complement Factor H gene
complement system
Issue Date: 1-Aug-2010
Publisher: Wiley-Blackwell
Citation: Acta Ophthalmologica. Malden: Wiley-Blackwell, v. 88, n. 5, p. E165-E169, 2010.
Abstract: Purpose:The aim of this study was investigate the association between complement Factor H polymorphism (Y402H) and age-related macular degeneration (AMD) in Brazilian patients.Methods:Patients with AMD aged 50 or more and age-matched healthy controls were enrolled in the study. Genomic DNA was isolated from leucocytes of patients and controls; the Y402H polymorphism of complement Factor H gene (CFH) was determined by polymerase chain reaction directed sequencing.Results:The frequency of 1277C allele of Factor H was 56.30% in patients with AMD compared with 36.51% in controls (p-value = 0.001). the genotypic distribution differed significantly between the two groups (1277CC 36.98%, 1277CT 38.65% and 1277TT 24.37% for AMD group; 1277CC 13.16%, 1277CT 46.71% and 1277TT 40.13% for controls, p-value = 0.001). the odds ratio for patients with AMD carrying only one 1277C allele was 1.36 and for those carrying two 1277C alleles was 4.63, when compared to the control group.Conclusions:These results suggest the Y402H polymorphism of CFH is a risk factor to the development of AMD in Brazilian patients. This is in accordance with findings from the majority of previous study population in Europe and North American.
ISSN: 1755-375X
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