title: Associations of complement factor B and complement component 2 genotypes with subtypes of polypoidal choroidal vasculopathy.
abstract: BACKGROUND
  We previously reported on subtypes of polypoidal choroidal vasculopathy (PCV), and categorized PCV as polypoidal choroidal neovascularization (CNV) and typical PCV. The aim of this study was to clarify whether complement component 2 (C2) and complement factor B (CFB) genotypes are associated with subtypes of polypoidal choroidal vasculopathy, such as polypoidal CNV and typical PCV.
  
  
  METHODS
  First, we categorized 677 patients into typical age-related macular degeneration (tAMD; 250 patients), PCV (376) and retinal angiomatous proliferation (RAP; 51). Second, we categorized 282 patients with PCV as having polypoidal CNV (84 patients) or typical PCV (198) based on indocyanine green angiographic findings. In total, 274 subjects without AMD, such as PCV and CNV, served as controls. A SNP (rs547154) in the C2 gene and three SNPs (rs541862, rs2072633, rs4151667) in the CFB gene were genotyped, and case-control studies were performed in subjects with these PCV subtypes.
  
  
  RESULTS
  In tAMD, no SNPs were associated with allele distributions. In PCV, rs547154 and rs2072633 were associated with allele distributions. RAP was only associated with rs2072633. After logistic regression analysis with adjustment for confounding factors, tAMD, PCV and RAP were found to be associated with rs2072633.As to PCV subtypes, there were significant differences in the distributions of rs547154, rs541862 and rs2072633 in the case-control studies for polypoidal CNV, but not between the typical PCV and control groups. Logistic regression analysis with adjustment for confounding factors showed the distributions of rs547154, rs541862 and rs2072633 to differ significantly between the controls and polypoidal CNV cases and that these SNPs were protective. The A/A genotype of rs2072633 was significantly more common in the polypoidal CNV than in the typical PCV group (p = 0.03), even with adjustment for polyp number and greatest linear dimension.
  
  
  CONCLUSIONS
  PCV might be genetically divisible into polypoidal CNV and typical PCV. The C2 and CFB gene variants were shown to be associated with polypoidal CNV. Typical PCV was not associated with variants in these genes.
authors: Koji
authors: K
authors: Tanaka
authors: Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan. nakayama.tomohiro@nihon-u.ac.jp.
authors: Tomohiro
authors: T
authors: Nakayama
authors: Ryusaburo
authors: R
authors: Mori
authors: Naoyuki
authors: N
authors: Sato
authors: Akiyuki
authors: A
authors: Kawamura
authors: Mitsuko
authors: M
authors: Yuzawa
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002829:Choroid / Q000378:metabolism / Q000473:pathology*; D020256:Choroidal Neovascularization / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D003175:Complement C2 / Q000235:genetics* / Q000378:metabolism; D011415:Complement Factor B / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005654:Fundus Oculi; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D012189:Retrospective Studies
chemical_list: D003175:Complement C2; D011415:Complement Factor B