title: Association analysis of CFH and ARMS2 gene polymorphisms in a Brazilian cohort with age-related macular degeneration.
abstract: OBJECTIVE
  To investigate the association between the CFH and ARMS2 gene polymorphisms and age-related macular degeneration (AMD) in a Brazilian cohort.
  
  
  METHODS
  We examined 163 individuals with AMD and 154 controls recruited at the Department of Ophthalmology of the Universidade Federal de Minas Gerais, at the Instituto da Visão, and at the Centro Especializado em Olhos, in Brazil, between 2007 and 2012. Genotyping for CFH rs1061170 and ARMS2 rs10490924 single-nucleotide polymorphisms was performed. The odds ratios (OR) for all of the studied genotypes (heterozygous and homozygous) of both genes were calculated compared to homozygous ancestral alleles.
  
  
  RESULTS
  Homozygosity for the CFH and ARMS2 at-risk allele was 33.3 and 23.6%, respectively, for AMD individuals and 10.3 and 7.1%, respectively, for controls (p < 0.0001). The OR was 7.2 (95% CI 3.6-14.5; p < 0.001) for the CFH at-risk genotype (CC) and 5.5 (95% CI 2.6-11.8; p < 0.0001) for ARMS2 (TT). Subjects homozygous for both polymorphisms had a much higher risk of developing AMD (n = 14 patients, OR 33.3, 95% CI 12.8-86.4). The proportion of ancestry in each group indicated that AMD patients had a higher European (Caucasian) component than controls.
  
  
  CONCLUSIONS
  CFH and ARMS2 polymorphisms were strongly associated with AMD in this Brazilian cohort.
authors.affiliation: Department of Ophthalmology, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. luciananfalmeida@gmail.com
authors.forename: Luciana N
authors.initials: LN
authors.lastname: Almeida
authors.forename: Rachel
authors.initials: R
authors.lastname: Melilo-Carolino
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Veloso
authors.forename: Patrícia A
authors.initials: PA
authors.lastname: Pereira
authors.forename: Luciana
authors.initials: L
authors.lastname: Bastos-Rodrigues
authors.forename: Helena
authors.initials: H
authors.lastname: Sarubi
authors.forename: Debora M
authors.initials: DM
authors.lastname: Miranda
authors.forename: Gisele
authors.initials: G
authors.lastname: Soubrane
authors.forename: Luiz
authors.initials: L
authors.lastname: De Marco
authors.forename: Marcio B
authors.initials: MB
authors.lastname: Nehemy
mesh_terms: D000368:Aged; D001938:Brazil / Q000453:epidemiology; D015331:Cohort Studies; D017242:Complement Factor H / Q000235:genetics; D005006:Ethnicity / Q000208:ethnology; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D041623:Tomography, Optical Coherence
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H