A GWAS found that just 4 genetic variants explain 48% of the heritability of blood VEGF levels — an unusually large share for a genetic score that small.
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
Vascular endothelial growth factor (VEGF) is a signaling protein that drives the growth of new blood vessels, a process called angiogenesis. It plays a central role in normal development and wound healing, and is also a target of cancer and eye-disease drugs designed to block excess blood vessel growth. Circulating VEGF level in blood is highly heritable.
A 2011 GWAS studied serum VEGF in 3,527 Framingham Heart Study participants, replicated in 1,727 more from two independent cohorts. The study found just 4 independent variants at 3 chromosomal regions — and a genetic score built from those 4 alone explained 48% of the heritability of serum VEGF, a remarkably large share for so small a set of variants. This page's rs6993770, near ZFPM2, and rs10738760, near KCNV2, are two of the paper's own four headline findings.
Ahola-Olli et al. 2017 took a broader approach, running a GWAS of up to 8,293 Finnish participants across many circulating cytokines and growth factors at once, not VEGF alone, and found 27 genome-wide-significant loci in total across all of them. This page's other 3 variants — near LINC03040 and MRPL14, and in CAPN11 — are that study's VEGF-specific findings among its broader 27-locus set.
VEGF is measured directly with a blood test, not estimated from genotype, and no variant on this page is used clinically to interpret a VEGF result or guide treatment with a VEGF-targeting drug. The variants here describe genetic contributors to baseline VEGF level — they play no role in cancer or eye-disease treatment decisions.
VEGF-targeting drugs (used in some cancers and retinal diseases) are prescribed and monitored based on the specific condition being treated, not on any variant on this page.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Serum VEGF Levels comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 7 of 7 linked studies with a resolved discovery ancestry.
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Serum VEGF Levels. MyGeneLog™. https://www.mygenelog.com/conditions/vegf-levels
VEGF (vascular endothelial growth factor) is a signaling protein that drives the growth of new blood vessels. It plays a role in normal development and wound healing and is also a drug target in some cancers and eye diseases.
In 3,527 people (replicated in 1,727 more), it found just 4 independent variants that together explained 48% of the heritability of serum VEGF level — an unusually concentrated genetic signal.
No. Those drugs are prescribed and monitored based on the specific condition being treated, not on any variant on this page.
No individual variant does with certainty, though the combined 4-variant score from the 2011 study captures an unusually large share of VEGF heritability. VEGF is measured directly with a blood test, not estimated from genotype.
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