title: An association between vascular endothelial growth factor gene promoter polymorphisms and diabetic retinopathy.
abstract: BACKGROUND
  Diabetic retinopathy is a highly prevalent cause of visual loss in Western countries. Vascular endothelial growth factor (VEGF) is a potent angiogenic factor implicated in the development of the proliferative stage of this disease. Reports have suggested that polymorphisms at positions -460 and -634 of the 5' untranslated region of the VEGF gene increase its basal promoter activity.
  
  
  METHODS
  To investigate whether polymorphisms are associated with diabetic retinopathy, 215 patients with type 2 diabetes mellitus (T2DM) were enrolled. Among them, 82 subjects had proliferative diabetic retinopathy (PDR), 72 had non-proliferative diabetic retinopathy (NPDR), and 61 individuals without retinopathy served as controls. Two polymorphisms of the VEGF gene, a G-->C transversion at -634 (the G/C polymorphism) and a C-->T transition at -460 (the C/T polymorphism), were investigated by restriction fragment length polymorphism PCR and allele-specific PCR respectively.
  
  
  RESULTS
  We did not find any association between the C/T polymorphism and diabetic retinopathy. However, the G/C polymorphism genotype distribution and the frequency of the C allele were significantly higher in the NPDR group than in control patients (OR = 1.69, 95% CI = 1.03-2.79). Analysis of the distribution of combined genotypes of the VEGF gene revealed the prevalence of the C/C-C/C genotype in NPDR patients (OR = 8.26, 95% CI = 1.79-37.99) and C/G-CC in PDR patients (OR = 3.36, 95% CI = 1.39-8.12).
  
  
  CONCLUSIONS
  Occurrence of the -634C allele appears to be associated with increased VEGF gene promoter activity, and the G/C polymorphism might serve as a predictive factor for the development of diabetic retinopathy.
authors.affiliation: Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland. jacek@amwaw.edu.pl
authors.forename: Jacek P
authors.initials: JP
authors.lastname: Szaflik
authors.forename: Tomasz
authors.initials: T
authors.lastname: Wysocki
authors.forename: Michal
authors.initials: M
authors.lastname: Kowalski
authors.forename: Ireneusz
authors.initials: I
authors.lastname: Majsterek
authors.forename: Anna I
authors.initials: AI
authors.lastname: Borucka
authors.forename: Janusz
authors.initials: J
authors.lastname: Blasiak
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szaflik
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000368:Aged; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A