title: Association of vascular endothelial growth factor, transforming growth factor beta, and interferon gamma gene polymorphisms with proliferative diabetic retinopathy in patients with type 2 diabetes.
abstract: OBJECTIVE
  Chronic hyperglycemia and hypoxemia are believed to be causal factors in the development of proliferative diabetic retinopathy (PDR) among individuals with type 2 diabetes. It is hypothesized that formation of new blood vessels in the retina due to prolonged hypoxia is associated with increased expression of several growth factors and angiogenic cytokines. In the present study, we investigated the association of genetic polymorphisms in vascular endothelial growth factor (VEGF), transforming growth factor beta (TGF-β), and interferon γ (IFN-γ) genes, which may be responsible for the hypoxia-induced VEGF-mediated neovascularization pathway for the pathogenesis of PDR.
  
  
  METHODS
  Our case-control association study composed of 493 ethnically matched volunteers (253 with PDR [cases] and 240 diabetic controls [DC]). Gene polymorphisms were determined with Taqman-based real-time PCR and amplification refractory mutation analysis system PCR.
  
  
  RESULTS
  The VEGF-460C (rs833061C; p=0.0043) and IFN-γ +874T (rs2430561T; p=0.0011) alleles were significantly associated with PDR.
  
  
  CONCLUSIONS
  Genetic variations at VEGF-460C and IFN-γ +874T might accelerate the pathogenesis of retinal neovascularization in PDR.
authors.affiliation: Department of Biochemistry, Dr. B. C. Roy Post Graduate Institute of Basic Medical Education and Research (IPGME&R), Kolkata, India.
authors.forename: Suman Kalyan
authors.initials: SK
authors.lastname: Paine
authors.forename: Analabha
authors.initials: A
authors.lastname: Basu
authors.forename: Lakshmi Kanta
authors.initials: LK
authors.lastname: Mondal
authors.forename: Aditi
authors.initials: A
authors.lastname: Sen
authors.forename: Subhadip
authors.initials: S
authors.lastname: Choudhuri
authors.forename: Imran Hussain
authors.initials: IH
authors.lastname: Chowdhury
authors.forename: Avijit
authors.initials: A
authors.lastname: Saha
authors.forename: Gautam
authors.initials: G
authors.lastname: Bhadhuri
authors.forename: Ankur
authors.initials: A
authors.lastname: Mukherjee
authors.forename: Basudev
authors.initials: B
authors.lastname: Bhattacharya
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics* / Q000473:pathology; D003930:Diabetic Retinopathy / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012160:Retina / Q000378:metabolism* / Q000473:pathology; D015861:Retinal Neovascularization / Q000150:complications / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA; D016212:Transforming Growth Factor beta / Q000235:genetics*; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*
chemical_list: D016212:Transforming Growth Factor beta; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D007371:Interferon-gamma