VEGFA
LOCUS ID7422
GENE_SYMBOLVEGFA
GENE NAMEvascular endothelial growth factor A
SYNONYMNSVPF, VEGF, MVCD1
CHROMOSOME6
HOMOLOGENE ID2534
microRNAsNANA
GENE SUMMARY
This gene is a member of the PDGF/VEGF growth factor family and encodes a protein that is often found as a disulfide linked homodimer. This protein is a glycosylated mitogen that specifically acts on endothelial cells and has various effects, including mediating increased vascular permeability, inducing angiogenesis, vasculogenesis and endothelial cell growth, promoting cell migration, and inhibiting apoptosis. Elevated levels of this protein is linked to POEMS syndrome, also known as Crow-Fukase syndrome. Mutations in this gene have been associated with proliferative and nonproliferative diabetic retinopathy. Altertively spliced transcript variants, encoding either freely secreted or cell-associated isoforms, have been characterized. There is also evidence for the use of non-AUG (CUG) translation initiation sites upstream of, and in-frame with the first AUG, leading to additional isoforms. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. We identified 34 replicated genetic variants. Of these, 21 remained significantly associated with diabetic nephropathy in a random-effects meta-alysis. These variants were in or near the following genesACE, AKR1B1 (two variants), APOC1, APOE, EPO, NOS3 (two variants), HSPG2, VEGFA, FRMD3 (two variants), CARS (two variants), UNC13B, CPVL and CHN2, and GREM1, plus four variants not near genes. The odds ratios of associated genetic variants ranged from 0.48 to 1.70. additional variants were detected in subgroup alysesELMO1 (Asians), CCR5 (Asians) and CNDP1 (type 2 diabetes).21127830
Retinopathy1. Data from our study show that TCF7L2-rs7903146 is associated with Proliferative diabetic retinopathy (PDR) in Caucasian T2DM and suggest that TCF7L2 promotes pathological retinal neovascularization via ER stress-dependent upregulation of VEGFA. 2. T2DM patients with retinopathy have higher levels of circulating inflammatory cytokines and VEGF compared to patients without retinopathy. These proinflammatory cytokines and angiogenic factors are involved in the progression of DR and proliferative diabetic retinopathy.?23434931, 28420575
Atherosclerosis1. VEGF dysfunction is implicated in major chronic disease states including atherosclerosis, diabetes, and cancer.25868665
Neuropathy1. Intramuscular plasmid VEGF gene transfer improved diabetic neuropathic symptoms, meeting primary end-point criteria for efficacy but not affecting most secondary measures. 2. Importantly, single and repeat intramuscular injections of formulated plasmid D encoding the VEGF-A-activating ZFP-TF resulted in protection of both sensory and motor nerve conduction velocities in a streptozotocin-induced rat model of diabetes. These data suggest that VEGF-A-activating ZFP-TFs may ultimately be of clinical utility in the treatment of this disease.19399887