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Center for Nephrology and Metabolic Disorders
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Vascular endothelial growth factor

Genetic variations in this gene correlate with diabetic retinopathy.

Epidemiology

The frequencies of these genotypes are only reported in the Japanese population. They are for CC, CG and GG 10, 50 and 40% respectively.

Gene Structure

The gene coding vascular endothelial growth factor is about 16kb in size. It is located on chromosome 6 (6p12). The gene consists of 7 exons.

Protein Structure

The translational product of this gene forms a heterodimeric glycoprotein.

Phenotype

The diabetic retinopathy is the main cause for acquired blindness in developed countries. It is obvious that beside of environmental factors (quality of diabetes control and duration of diabetes) genetic factors influence clinical manifestation. This way the manifestation of retinopathy can be correlated to -634C-allel of VEGF gene. This mutation results in elevated plasma levels of the protein. An allel dosage can be observed. That means the risk of retinopathy increases with following genotypes GG, GC, CC.

Pathology

The fact that elevated intraocular concentrations of vascular endothelial growth factor can be found in advance of clinical manifestation of diabetic retinopathy does support its pathogenetic role in diabetic retinopathy. Moreover a retinopathy like disease can be induced experimentally in nondiabetic animals by intraocular injections of this protein.

Gene Regulation

The vascular endothelial growth factor regulates angiogenesis and vascular permeability. This assertion is further underpinned by the observation that a drug (ranibizumab), a specific inhibitor of the protein, appears to be suitable for treatment of macula oedema associated with diabetic retinopathy.[Error: Macro 'ref' doesn't exist]

Test Strategy

The genetic test should not be considered before clinical manifestation of diabetes. The test can help to define the need and the schedule of diagnostic an therapeutic procedures. This is specially important in families with increased risk.

Interpretation

The risk of diabetic retinopathy is elevated 3 times in CC-genotype.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Diabetic retinopathy
PON1
VEGFA

References:

1.

Awata T et al. (2002) A common polymorphism in the 5'-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes.

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2.

Nguyen QD et al. (2006) Vascular endothelial growth factor is a critical stimulus for diabetic macular edema.

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3.

Duh E et al. (1999) Vascular endothelial growth factor and diabetes: the agonist versus antagonist paradox.

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4.

Eremina V et al. (2004) The role of VEGF-A in glomerular development and function.

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5.

Ferrara N et al. (1997) The biology of vascular endothelial growth factor.

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6.

OMIM.ORG article

Omim 192240 external link
7.

NCBI article

NCBI 7422 external link
8.

Wikipedia article

Wikipedia EN (Vascular_endothelial_growth_factor) external link
Update: Aug. 14, 2020
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