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An association between vascular endothelial growth factor gene promoter polymorphisms and diabetic retinopathy

  • Clinical Investigation
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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.

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Acknowledgements

This work was supported by a statutory grant of the Medical University of Warsaw and by the grant number 505/363 from the University of Lodz.

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Authors and Affiliations

  1. Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland

    Jacek P. Szaflik, Michal Kowalski, Anna I. Borucka & Jerzy Szaflik

  2. Department of Molecular Genetics, University of Lodz, Lodz, Poland

    Tomasz Wysocki, Ireneusz Majsterek & Janusz Blasiak

Authors
  1. Jacek P. Szaflik
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  2. Tomasz Wysocki
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  3. Michal Kowalski
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  4. Ireneusz Majsterek
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  5. Anna I. Borucka
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  6. Janusz Blasiak
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  7. Jerzy Szaflik
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Correspondence to Jacek P. Szaflik.

Additional information

The authors have no financial or other interest in any products used or described in this study. This work was supported by a statutory grant of the Medical University of Warsaw, Warsaw, Poland, and grant 505/363 from the University of Lodz (JB).

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Szaflik, J.P., Wysocki, T., Kowalski, M. et al. An association between vascular endothelial growth factor gene promoter polymorphisms and diabetic retinopathy. Graefes Arch Clin Exp Ophthalmol 246, 39–43 (2008). https://doi.org/10.1007/s00417-007-0674-6

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  • DOI: https://doi.org/10.1007/s00417-007-0674-6

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