For rs833061, a significant association between VEGF SNPs and DR was found only in the allele model (C/T; pooled OR 6.34, 95% CI 2.10-19.14, P = 0.001).
A number of polymorphisms in the VEGF gene have been described as being associated with several diseases, such as diabetic retinopathy, prostate cancer and breast cancer.
In this study we compared VEGF gene variants in a sample of Korean type 2 diabetes patients with and without diabetic retinopathy (DR) and in healthy controls.
This study suggests that diabetic Han Chinese carrying the -634CC VEGF promoter polymorphism have a genetic risk of DR, and this polymorphism may be a major factor influencing plasma VEGF levels.
Our study suggests that the 936 C/T polymorphism of the VEGF gene may be an important factor determining plasma VEGF levels and that its polymorphism is related with diabetic retinopathy.
The gene coding for vascular endothelial growth factor, aldose reductase, and the receptor for advanced glycation end products have been extensively evaluated, and specific polymorphisms of these genes have been suggested to potentially increase the risk of DR development.
The aim of the current study was to evaluate whether the VEGF gene polymorphism is an independent risk factor for severity of diabetic retinopathy in an Iranian adult population.
The multivariate logistic regression analysis showed that the D allele of the VEGF polymorphism is an independent risk factor of diabetic retinopathy after controlling for other clinical variables.
Amongst all the DVC, D allele of the VEGF polymorphism had a significantly increased risk of diabetic retinopathy (DR) (OR = 1.31; p = 0.033) irrespective of the duration of diabetes, BMI, the glycemia control expressed by HbA1c, renal function, lipid values or applied treatment.
Despite of the higher frequency of both the polymorphic genotype and the A allele in cases with DR compared to the control group, there might be no significant association between the VEGF gene polymorphism and DR per se, unless it is longstanding.
Functional VEGF C-634G polymorphism is associated with development of diabetic macular edema and correlated with macular retinal thickness in type 2 diabetes.
From a mechanistic point of view, our findings indicated that, by adversely affecting HMGA1 protein expression and function, the HMGA1 rs139876191 variant played a key role in this protective mechanism by downregulating the expression of vascular endothelial growth factor A (VEGFA), a major activator of neovascularization in DR.