title: Functional vascular endothelial growth factor -634G>C SNP is associated with proliferative diabetic retinopathy: a case-control study in a Brazilian population of European ancestry.
abstract: OBJECTIVE
  The purpose of this study was to evaluate the effect of the single nucleotide polymorphism (SNP) -634G>C at the 5' regulatory region of the vascular endothelial growth factor (VEGF) in the risk of proliferative diabetic retinopathy (PDR) in the Brazilian population of European ancestry with type 2 diabetes.
  
  
  METHODS
  A case-control study was conducted in 501 type 2 diabetic patients of European ancestry. Patients underwent a standardized clinical, ophthalmological, and laboratory evaluation. Of these, 167 patients had PDR (case patients), and 334 were considered as control subjects (patients without PDR) for PDR. A reference population (110 individuals of European ancestry) was also evaluated.
  
  
  RESULTS
  No evidence of association between -634G>C/VEGF and the presence of diabetic retinopathy or type 2 diabetes was observed (P > 0.05). However, CC homozygous for the SNP -634G>C was significantly more frequent in patients with PDR (37 of 167; 22.2%) than in the corresponding control group (40 of 334; 12%) in accordance with a recessive model (P = 0.003). This effect was further observed when creatinine, BMI, sex, duration of type 2 diabetes, HDL cholesterol, and systolic blood pressure were taken into account (odds ratio 1.9 [95% CI 1.01-3.79], P = 0.04).
  
  
  CONCLUSIONS
  The presence of the allele -634C/VEGF in homozygosity is an independent risk factor for the development of PDR in type 2 diabetic patients of European ancestry.
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, CEP 05508-900 São Paulo, Brazil.
authors.forename: Flavia I V
authors.initials: FI
authors.lastname: Errera
authors.forename: Luís Henrique
authors.initials: LH
authors.lastname: Canani
authors.forename: Maria Elisabeth R
authors.initials: ME
authors.lastname: Silva
authors.forename: Erika
authors.initials: E
authors.lastname: Yeh
authors.forename: Walter
authors.initials: W
authors.lastname: Takahashi
authors.forename: Katia G
authors.initials: KG
authors.lastname: Santos
authors.forename: Katia E P
authors.initials: KE
authors.lastname: Souto
authors.forename: Balduíno
authors.initials: B
authors.lastname: Tschiedel
authors.forename: Israel
authors.initials: I
authors.lastname: Roisenberg
authors.forename: Jorge Luis
authors.initials: JL
authors.lastname: Gross
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D000328:Adult; D001794:Blood Pressure; D015992:Body Mass Index; D001938:Brazil; D016022:Case-Control Studies; D015331:Cohort Studies; D003924:Diabetes Mellitus, Type 2 / Q000503:physiopathology*; D003930:Diabetic Retinopathy / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D010808:Physical Examination; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D011795:Surveys and Questionnaires; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*; D044465:White People
chemical_list: D008055:Lipids; D042461:Vascular Endothelial Growth Factor A