title: GENETIC FACTORS ASSOCIATED WITH CHOROIDAL VASCULAR HYPERPERMEABILITY AND SUBFOVEAL CHOROIDAL THICKNESS IN POLYPOIDAL CHOROIDAL VASCULOPATHY.
abstract: OBJECTIVE
  To investigate genetic factors associated with choroidal vascular hyperpermeability (CVH) and subfoveal choroidal thickness in eyes with treatment-naive polypoidal choroidal vasculopathy.
  
  
  METHODS
  We studied 149 consecutive patients with polypoidal choroidal vasculopathy. The presence of CVH was evaluated using indocyanine green angiography. Subfoveal choroidal thickness and axial length were measured by spectral domain optical coherence tomography and optical biometry, respectively. Genotyping of three single nubleotide polymorphisms (SNPs), including age-related maculopathy susceptibility 2 (ARMS2) A69S (rs10490924), complement factor H (CFH) I62V (rs800292), and CFH (rs1329428), which are reportedly associated with central serous chorioretinopathy, was conducted using TaqMan technology.
  
  
  RESULTS
  Thicker subfoveal choroidal thickness was associated with younger age, shorter axial length, G-allele frequency in ARMS2 A69S (rs10490924), and T-allele frequency in CFH (rs1329428) (P = 0.001, P < 0.001, P = 0.004, and P = 0.002, respectively; multiple regression analysis). Among 149 eyes with polypoidal choroidal vasculopathy, 35 eyes (23.5%) exhibited CVH on indocyanine green angiography. Patients with CVH had a significantly higher frequency of the G allele of ARMS2 A69S (rs10490924) and the T allele of CFH (rs1329428), which are reported to be risk alleles for central serous chorioretinopathy (P = 0.006 and P = 0.032, respectively; multivariate regression analysis).
  
  
  CONCLUSIONS
  Subfoveal choroidal thickness and CVH in eyes with treatment-naive polypoidal choroidal vasculopathy were associated with ARMS2 A69S (rs10490924) and CFH (rs1329428).
authors.affiliation: Departments of *Ophthalmology, and †Epigenetics, Faculty of Medicine, University of Yamanashi, Kofu, Japan.
authors.forename: Seigo
authors.initials: S
authors.lastname: Yoneyama
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Sakurada
authors.forename: Wataru
authors.initials: W
authors.lastname: Kikushima
authors.forename: Atsushi
authors.initials: A
authors.lastname: Sugiyama
authors.forename: Naohiko
authors.initials: N
authors.lastname: Tanabe
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Mabuchi
authors.forename: Takeo
authors.initials: T
authors.lastname: Kubota
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Iijima
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002199:Capillary Permeability / Q000235:genetics*; D002829:Choroid / Q000098:blood supply* / Q000473:pathology*; D020256:Choroidal Neovascularization / Q000175:diagnosis / Q000235:genetics*; D004396:Coloring Agents / Q000008:administration & dosage; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005787:Gene Frequency; D060005:Genotyping Techniques; D006801:Humans; D007208:Indocyanine Green / Q000008:administration & dosage; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011127:Polyps / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D041623:Tomography, Optical Coherence
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D004396:Coloring Agents; D011506:Proteins; D017242:Complement Factor H; D007208:Indocyanine Green