VEGFA

Full Name: Vascular Endothelial Growth Factor A 

Genomic Location: Chromosome 6:43,770,184-43,786,487

Protein Size: 232 amino acids

Function:

This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis.

Linked SNP(s):

  • rs2010963 is linked to VEGFA, it is located in the 5’-UTR region.
  • Population frequencies are approximately 30% for the reference allele (C) and 70% for the alternate allele (G).
  • Studies suggest the C allele is associated with poor health outcomes, but this can be mitigated by following a healthy diet.
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