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Association of complement factor H Y402H polymorphism and age‐related macular degeneration in Brazilian patients
Author(s) -
Teixeira Anderson G.,
Silva Aldacilene S.,
Lin Fabio L.H.,
Velletri Roberta,
Bavia Lorena,
Belfort Jr Rubens,
Isaac Lourdes
Publication year - 2010
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2010.01932.x
Subject(s) - factor h , macular degeneration , odds ratio , genotype , allele , medicine , risk factor , polymorphism (computer science) , allele frequency , protective factor , polymerase chain reaction , case control study , gastroenterology , genetics , immunology , biology , complement system , gene , ophthalmology , antibody
. 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.