title: The presence of CFH, HTRA1, ARMS2, VEGF-A and VEGF-R and the appearance of age-related macular degeneration sub-types.
abstract: OBJECTIVE
  To demonstrate the genetic influence in the onset of the different age-related macular disease (AMD) subtypes by analysing the genotype distribution of CFH, ARMS2, HTRA1, VEGF-A and VEGF-R polymorphisms in patients with neovascular and atrophic AMD.
  
  
  METHODS
  The study was conducted on 101 consecutive patients with AMD diagnosis (74 exudative, 27 atrophic) following Wisconsin international classification criteria. The CFH rs1410996, ARMS2 rs10940923, VEGF-A rs833061, rs699947, and VEGF-R rs2071559 polymorphisms were analysed using real time PCR with taqman probes, and HTRA1 rs112000638 using restriction endonucleases digestion. A study was made of the genotype distribution of the different polymorphisms in our group of patients with neovascular AMD and those with the atrophic type, and a comparison was made of the results for each one of the genes studied.
  
  
  RESULTS
  No statistically significant differences (P>.05) were found in the genotype distribution of the different polymorphisms between patients with neovascular AMD and patients with atrophic AMD in our population, although the "risk" genotypes tended to appear more frequently in patients with neovascular AMD, despite the lack of statistical significance.
  
  
  CONCLUSIONS
  Allelic variants of CFH, ARMS2, HTRA1, VEGF-A or VEGF-R genes are not associated with the different AMD subtypes. This suggests that, although the polymorphisms seem to be associated with the disease susceptibility, they are not involved in the onset of the different clinical variants of AMD. Further studies in different populations, and with a larger cohort of patients, are needed to confirm these results.
authors: Servicio de Oftalmología, Hospital Universitario de Salamanca, Salamanca, España. Electronic address: cruzgonzalez.fernando@gmail.com.
authors: F
authors: F
authors: Cruz-González
authors: Servicio de Oftalmología, Instituto Salmantino de Oftalmología, Salamanca, España.
authors: L
authors: L
authors: Cabrillo Estévez
authors: Servicio de Oftalmología, Hospital Universitario de Salamanca, Salamanca, España.
authors: C
authors: C
authors: Cañete Campos
authors: Servicio de Oftalmología, Hospital Universitario de Salamanca, Salamanca, España.
authors: A
authors: A
authors: Sánchez-Jara Sánchez
authors: Servicio de Oftalmología, Hospital Universitario de Salamanca, Salamanca, España.
authors: L
authors: L
authors: Juan Marcos
authors: Departamento de Medicina Molecular, Facultad de Medicina, Universidad de Salamanca, Salamanca, España.
authors: R
authors: R
authors: González-Sarmiento
mesh_terms: D017242:Complement Factor H / Q000235:genetics; D005838:Genotype; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D008268:Macular Degeneration / Q000145:classification / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics
chemical_list: C514392:ARMS2 protein, human; D011506:Proteins; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D017242:Complement Factor H; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases
keywords: AMD; ARMS2; CFH; DMAE; Genetics; Genética; HTRA1; Polimorfismos; Polymorphisms; VEGF-A; VEGF-R