title: Genetic and environmental factors associated with reticular pseudodrusen in age-related macular degeneration.
abstract: OBJECTIVE
  To analyze the genetic and environmental factors associated with reticular pseudodrusen (RPD) in age-related macular degeneration (AMD).
  
  
  METHODS
  In a large population, AMD patients (n = 519) with and without RPD were assessed with a standardized examination including infrared images and spectral domain optical coherence tomography scans. Three groups were defined: Group 1: AMD patients with RPD (n = 105); Group 2: AMD patients without RPD (n = 414); and Group 3: controls with no AMD and no RPD (n = 430). Four genes associated with AMD (CFH, ARMS2/HTRA1, C3, apolipoprotein E) and environmental factors were assessed between the 3 groups.
  
  
  RESULTS
  None of the environmental factors studied were more significantly associated to either Group 1 or Group 2. The odds ratios and 95% confidence intervals for individuals homozygous for the CFH risk allele were 4.0 (2.1-7.7) ([95% confidence interval: 2.1-7.7]; P < 0.0004) in Group 1 and 4.3 ([2.6-7.1]; P < 0.0004) in Group 2, compared with Group 3. The odds ratios for individuals homozygous for the ARMS2 risk allele for Groups 1 and 2 compared with Group 3 were 16.3 ([7.6-35.4]; P < 0.0004) and 11.9 ([6.3-22.3]; P < 0.0004), respectively. None of the genotypes studied were more significantly associated to Group 1 than Group 2.
  
  
  CONCLUSIONS
  Genotypes known to be associated with AMD were similarly observed in patients with and without RPD.
authors.affiliation: Department of Ophthalmology, Centre Hospitalier Intercommunal de Creteil, University Paris Est, Creteil, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Puche
authors.forename: Rocio
authors.initials: R
authors.lastname: Blanco-Garavito
authors.forename: Florence
authors.initials: F
authors.lastname: Richard
authors.forename: Nicolas
authors.initials: N
authors.lastname: Leveziel
authors.forename: Jennyfer
authors.initials: J
authors.lastname: Zerbib
authors.forename: Julien
authors.initials: J
authors.lastname: Tilleul
authors.forename: Gérard
authors.initials: G
authors.lastname: Mimoun
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Querques
authors.forename: Salomon Y
authors.initials: SY
authors.lastname: Cohen
authors.forename: Eric H
authors.initials: EH
authors.lastname: Souied
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D059647:Gene-Environment Interaction; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D015593:Retinal Drusen / Q000209:etiology* / Q000235:genetics; D012307:Risk Factors; D041623:Tomography, Optical Coherence
chemical_list: C514392:ARMS2 protein, human; D001057:Apolipoproteins E; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H