title: The association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy.
abstract: OBJECTIVE
  To compare the association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).
  
  
  METHODS
  We included 175 Japanese patients with PCV and 150 age- and sex-matched controls. PCV was classified into two phenotypes (Type 1 and Type 2) according to the presence or absence of the feeding vessels found in indocyanine-green angiography. The single nucleotide polymorphism (SNP) at rs10490924 (A69S) in ARMS2 and rs800292 (I62V), rs1061170 (Y402H) in the CFH region were genotyped using the TaqMan assay.
  
  
  RESULTS
  The minor allele frequency (MAF) of rs10490924 was significantly different between Type 1 PCV (n = 81) and control (p < 0.0001), while no difference was found between Type 2 PCV (n = 94) and control (p = 0.20). The MAF of rs800292 was significantly different between each type of PCV and control (p < 0.0001 and 0.0001 for Type 1 versus control and Type 2 versus control, respectively). The MAF of rs1061170 was not significantly different between either type of PCV and control (p = 0.084 and 0.15, respectively).
  
  
  CONCLUSIONS
  There may be significantly different associations in the genetic variants of ARMS2 between two angiographic phenotypes of PCV.
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Miki
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; D000369:Aged, 80 and over; D002829:Choroid / Q000098:blood supply*; D015862:Choroid Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D004396:Coloring Agents; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005787:Gene Frequency; D060005:Genotyping Techniques; D006801:Humans; D007208:Indocyanine Green; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011127:Polyps / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D014792:Visual Acuity
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D004396:Coloring Agents; D011506:Proteins; D017242:Complement Factor H; D007208:Indocyanine Green