title: Association of complement factor H Y402H polymorphism and age-related macular degeneration in Brazilian patients.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
authors.forename: Anderson G
authors.initials: AG
authors.lastname: Teixeira
authors.forename: Aldacilene S
authors.initials: AS
authors.lastname: Silva
authors.forename: Fabio L H
authors.initials: FL
authors.lastname: Lin
authors.forename: Roberta
authors.initials: R
authors.lastname: Velletri
authors.forename: Lorena
authors.initials: L
authors.lastname: Bavia
authors.forename: Rubens
authors.initials: R
authors.lastname: Belfort
authors.forename: Lourdes
authors.initials: L
authors.lastname: Isaac
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil / Q000453:epidemiology; D017242:Complement Factor H / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014792:Visual Acuity
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H