VEGFA
Vascular Endothelial Growth Factor A
Gene Number: 7422
Location: 6p21.1
Key Functions: Angiogenesis, vascular permeability, endothelial cell proliferation, wound healing, cardiovascular and tissue homeostasis
VEGFA encodes vascular endothelial growth factor A, a potent signaling molecule central to the process of angiogenesis—the formation of new blood vessels from pre-existing vasculature. It acts as a key regulator of vascular integrity, endothelial cell survival, and tissue oxygenation. VEGFA’s biological actions are primarily mediated through its binding to VEGFR1 (FLT1) and VEGFR2 (KDR/FLK1) receptors on endothelial cells, which activate downstream signaling cascades, including PI3K/AKT, MAPK/ERK, and PLCγ pathways, resulting in endothelial proliferation, migration, and vessel formation [R].
Pathophysiological relevance: Dysregulation of VEGFA signaling contributes to a spectrum of diseases. Overexpression is associated with tumor angiogenesis, diabetic retinopathy, and rheumatoid arthritis, whereas reduced expression can lead to impaired wound healing, tissue ischemia, and microvascular rarefaction. Proper modulation of VEGFA activity is therefore crucial for both vascular and systemic homeostasis [R].
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs699947 | Analyze your DNA to see your genotype | A | Analyze your DNA to see a personalized result. |
rs1570360 | Analyze your DNA to see your genotype | G | Analyze your DNA to see a personalized result. |
rs699947 (–2578 C>A)
CC – Normal risk; baseline VEGF-A expression and disease association (R).
AC – Higher risk; linked to increased VEGF-A levels and elevated risk of thyroid cancer and regional metastasis in males (R).
AA – Higher risk; rare homozygote also associated with elevated VEGF and cancer risk (R).
Functional effect: The A allele increases transcription of VEGF-A, promoting angiogenesis and potentially fueling tumor progression, including thyroid cancer and metastasis.
rs1570360 (–1154 G>A)
GG – Normal risk; typical VEGF-A promoter activity (R).
AG – Intermediate risk; linked to modestly reduced gene activity and may confer protection in certain conditions (R).
AA – Higher risk; associated with 3-fold increased risk of unexplained implantation failure (e.g., in IVF settings) (R).
Functional effect: The A allele reduces promoter activity and VEGF-A production, potentially impairing placental angiogenesis and increasing the risk of implantation failure.
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