Genetic variations in this gene correlate with diabetic retinopathy.
The frequencies of these genotypes are only reported in the Japanese population. They are for CC, CG and GG 10, 50 and 40% respectively.
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.
The translational product of this gene forms a heterodimeric glycoprotein.
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.
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.
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]
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.
The risk of diabetic retinopathy is elevated 3 times in CC-genotype.
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 |
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. |
2. |
Nguyen QD et al. (2006) Vascular endothelial growth factor is a critical stimulus for diabetic macular edema. |
3. |
Duh E et al. (1999) Vascular endothelial growth factor and diabetes: the agonist versus antagonist paradox. |
4. |
Eremina V et al. (2004) The role of VEGF-A in glomerular development and function. |
5. |
Ferrara N et al. (1997) The biology of vascular endothelial growth factor. |
6. |
OMIM.ORG article Omim 192240 |
7. |
NCBI article NCBI 7422 |
8. |
Wikipedia article Wikipedia EN (Vascular_endothelial_growth_factor) |