title: Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese population.
abstract: BACKGROUND
  To investigate whether genetic variant in superkiller viralicidic activity 2-like (SKIV2L) gene is associated with exudative age-related macular degeneration (AMD) including neovascular AMD, polypoidal choroidal vasculopathy (PCV), and retinal angiomatous proliferation (RAP).
  
  
  METHODS
  A total of 517 patients with exudative AMD comprised of 157patients with neovascular AMD, 333 patients with PCV, and 27patients with RAP, and 205 controls were enrolled in this study. Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-related maculopathy susceptibility2 (ARMS2) gene was genotyped using TaqMan technology. Logistic regression analysis was performed to correlate the risk for exudative AMD with demographic and genetic factors.
  
  
  RESULTS
  The A allele frequency of rs429608 in the SKIV2L gene was significantly higher in controls (13.9%) than in those with neovascular AMD (5.7%, p = 0.002), PCV (7.2%, p = 0.003) and RAP (3.7%, p = 0.0345). After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly protective against neovascular AMD (odds ratio [OR] 0.24, 95% confidence interval [CI] 0.122-0.484, p < 0.001), PCV (OR 0.43, 95% CI 0.262-0.704, p = 0.001), RAP (OR 0.09, 95% CI 0.014-0.581, p = 0.011).
  
  
  CONCLUSIONS
  A SKIV2L variant was associated with protection against exudative AMD regardless of subtypes in the Japanese population.
authors.affiliation: Departments of Ophthalmology and.
authors.forename: Seigo
authors.initials: S
authors.lastname: Yoneyama
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Sakurada
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Mabuchi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Sugiyama
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; D044466:Asian People / Q000235:genetics*; D020256:Choroidal Neovascularization / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007564:Japan; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011127:Polyps / Q000235:genetics; D011506:Proteins / Q000235:genetics; D058471:Subretinal Fluid; D057135:Wet Macular Degeneration / Q000235:genetics*
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H; D004265:DNA Helicases; C114718:SKIV2L protein, human
keywords: Age-related macular degeneration; polypoidal choroidal vasculopathy; retinal angiomatous proliferation; superkiller viralicidic activity 2-like gene