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

Autor(es)

Teixeira, Anderson G. ^[1] ; Silva, Aldacilene S. ^[2] ; Lin, Fabio L. H. ^[2] ; Velletri, Roberta ^[1] ; Bavia, Lorena ^[2] ; Belfort, Jr., Rubens ^[1] ; Isaac, Lourdes ^[2]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Dept Ophthalmol, BR-04023062 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Inst Ciencias Biomed, Dept Imunol, BR-05508900 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: ACTA OPHTHALMOLOGICA; v. 88, n. 5, p. E165-E169, AUG 2010.
• Citações Web of Science: 9

Resumo

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. (AU)

• Processo FAPESP: 06/50990-3 - Estudo molecular de deficiências de componentes e reguladores do sistema complemento humano: importância de C3 e fator I na expressão de genes em fibroblastos humanos e avaliação da associação de polimorfismo de fator H com degeneração da mácula associada à idade
• Beneficiário: Lourdes Isaac
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 06/53296-0 - Polimorfismo de fator H humano e associação com a degeneração macular associada à idade
• Beneficiário: Aldacilene Souza da Silva
• Modalidade de apoio: Bolsas no Brasil - Doutorado