title: Association of LOC387715/ARMS2 (rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian Population.
abstract: BACKGROUND
  An association between LOC387715/ARMS2 (rs10490924) gene polymorphism and AMD has been reported. The aim of this study was to evaluate whether this polymorphism is associated with AMD in a Brazilian cohort.
  
  
  METHODS
  In total, 126 unrelated AMD patients (mean age 74.17 ± 7.64) were compared with 86 healthy controls (mean age 71.82 ± 7.12). Study subjects were classified according to the International ARM Epidemiological Study Group definition for early and late-stage AMD. LOC387715/ARMS2 rs10490924 polymorphism was evaluated through polymerase chain reaction and direct sequencing.
  
  
  RESULTS
  The T allele frequency was significantly higher in AMD patients than in controls (39.6% compared to 20.3%). The odds ratio (OR) for AMD was 2.05 (95% CI 1.13-3.71) for heterozygotes (TG) and 8.32 (95% CI 2.30-45.99) for homozygotes (TT).
  
  
  CONCLUSIONS
  These results suggest that there is a contribution of the rs10490924 SNP of the LOC387715/ARMS2 gene to AMD susceptibility in this sample of the Brazilian population.
authors.affiliation: a Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas - UNICAMP , Campinas , SP , Brazil and.
authors.forename: Fabio Endo
authors.initials: FE
authors.lastname: Hirata
authors.forename: José Paulo Cabral
authors.initials: JP
authors.lastname: de Vasconcellos
authors.forename: Flávio MacCord
authors.initials: FM
authors.lastname: Medina
authors.forename: Priscila Hae Hyun
authors.initials: PH
authors.lastname: Rim
authors.forename: Enzo Augusto Medeiros
authors.initials: EA
authors.lastname: Fulco
authors.forename: Mônica Barbosa
authors.initials: MB
authors.lastname: de Melo
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D057092:Geographic Atrophy / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D057135:Wet Macular Degeneration / Q000453:epidemiology / Q000235:genetics*
chemical_list: C514392:ARMS2 protein, human; D011506:Proteins
keywords: AMD; LOC387715/ARMS2; macular degeneration; polymorphism; rs10490924