title: The association of age-related maculopathy susceptibility 2 polymorphisms with phenotype in typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
abstract: OBJECTIVE
  To determine the association of age-related maculopathy susceptibility 2 (ARMS2) gene polymorphisms with the phenotype of typical neovascular age-related macular degeneration (tAMD) and polypoidal choroidal vasculopathy (PCV) and the effects of photodynamic therapy (PDT).
  
  
  METHODS
  The single nucleotide polymorphisms at rs10490924 (A69S) in ARMS2 of 68 tAMD and 119 PCV patients who underwent PDT were genotyped using the TaqMan assay. The baseline best corrected visual acuity (BCVA) and lesion size were compared among the three genotypes at rs10490924. A multivariate regression analysis was performed to evaluate the influence of the baseline BCVA, greatest linear dimension (GLD), and lesion phenotype (tAMD or PCV) on the association of rs10490924 with the BCVA 12 months after the first PDT.
  
  
  RESULTS
  The mean lesion size was significantly different among the GG, GT, and TT genotypes at rs10490924 in the PCV group, although no significant differences were detected in the tAMD group. PCV patients with a G allele had significantly better vision at 3 months after the initial PDT. tAMD patients with a TT genotype had significantly poorer vision at 12 months after the first PDT. In the multivariate regression analysis, the additive model of the G allele at rs10490924 was associated with a significantly better BCVA 12 months after the first PDT in tAMD and PCV patients.
  
  
  CONCLUSIONS
  ARMS2 variants are likely associated with the phenotype and the effects of PDT in tAMD and PCV.
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Bessho
authors.forename: Shigeru
authors.initials: S
authors.lastname: Honda
authors.forename: Naoshi
authors.initials: N
authors.lastname: Kondo
authors.forename: Akira
authors.initials: A
authors.lastname: Negi
mesh_terms: D000368:Aged; D000483:Alleles; D002829:Choroid / Q000098:blood supply / Q000473:pathology; D020256:Choroidal Neovascularization / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007564:Japan; D008268:Macular Degeneration / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D010641:Phenotype; D010778:Photochemotherapy; D017319:Photosensitizing Agents / Q000008:administration & dosage; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012160:Retina; D012307:Risk Factors; D014792:Visual Acuity
chemical_list: C514392:ARMS2 protein, human; D017319:Photosensitizing Agents; D011506:Proteins