title: The association of elastin gene variants with two angiographic subtypes of polypoidal choroidal vasculopathy.
abstract: OBJECTIVE
  To compare the association of elastin (ELN) gene variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).
  
  
  METHODS
  We included 411 treatment-naïve PCV patients and 350 controls in the present study. PCV was classified into two phenotypes (152 Type 1 and 259 Type 2) according to the presence or absence of feeding vessels found in indocyanine-green angiography. Single nucleotide polymorphisms (SNPs) in the ELN region including rs868005, rs884843, rs2301995, rs13239907 and rs2856728 were genotyped using TaqMan Genotyping Assays.
  
  
  RESULTS
  In the allelic association analyses, rs868005 showed the strongest association with Type 2 PCV (allelic odds ratio 1.56; p = 7.4x10(-6)), while no SNP was significantly associated with Type 1 PCV. Genotype association analyses revealed the significant association of rs868005 with Type 2 PCV in log additive model and predominant model (odds ratio 1.75; p = 1.5x10(-6) and odds ratio 1.60; p = 0.0044, respectively), but not with Type 1 PCV. These findings were further corroborated by another control group in the literature.
  
  
  CONCLUSIONS
  There may be significantly different associations in genetic variants of elastin between two angiographic phenotypes of PCV.
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
authors.forename: Suiho
authors.initials: S
authors.lastname: Yanagisawa
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo-ku, Yamanashi 409-3898, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Sakurada
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Miki
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Matsumiya
authors.affiliation: Department of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto
authors.affiliation: Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Honda
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D020256:Choroidal Neovascularization / Q000175:diagnosis* / Q000235:genetics*; D004549:Elastin / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D004549:Elastin