Association of complement factor H Y402H polymorphism and age-related macular degeneration in Brazilian patients

Association of complement factor H Y402H polymorphism and age-related macular degeneration in Brazilian patients

Author Teixeira, Anderson G. Autor UNIFESP Google Scholar
Silva, Aldacilene S. Google Scholar
Lin, Fabio L. H. Google Scholar
Velletri, Roberta Autor UNIFESP Google Scholar
Bavia, Lorena Google Scholar
Belfort, Rubens Junior Autor UNIFESP Google Scholar
Isaac, Lourdes Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
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.
Keywords age-related macular degeneration
complement Factor H gene
complement system
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Grant number FAPESP: 2006/50990-3
FAPESP: 06/53296-0
CNPq: 470069/2007-4
Date 2010-08-01
Published in Acta Ophthalmologica. Malden: Wiley-Blackwell, v. 88, n. 5, p. E165-E169, 2010.
ISSN 1755-375X (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent E165-E169
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000279898200003

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