What you carry at this position in your DNA and what research says about it.
Heart and Eye Health: 6/10 evidence, 60 publications.
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Sample genotype (not yours): C/C
Higher Cardiovascular and Eye Risks
Elevated VEGF expression increases the likelihood of developing coronary artery disease and diabetic eye complications. It is also linked to a higher risk of endometriosis.
What this genotype means: Increased risk of coronary artery disease; Higher risk of diabetic retinopathy; Elevated risk of endometriosis.
Sample genotype (not yours): C/G
Moderately Higher Heart and Eye Risks
Carrying one copy of the C allele moderately increases the risk of coronary artery disease and diabetic retinopathy, while offering some benefits in drug response.
What this genotype means: Moderately increased risk of coronary artery disease; Increased risk of diabetic retinopathy; Improved survival response to sunitinib therapy.
Sample genotype (not yours): G/G
Typical Cardiovascular and Eye Risks
Lower baseline VEGF expression provides protection against abnormal blood vessel growth, resulting in typical heart, eye, and endometriosis risks.
What this genotype means: Typical risk of coronary artery disease; Lower risk of diabetic retinopathy; Typical risk of endometriosis.
Gene function and biological role
Gene Function: The VEGFA gene encodes vascular endothelial growth factor A, a crucial protein that stimulates the growth of new blood vessels [1]. This process, known as angiogenesis, is essential for wound healing, tissue repair, and embryonic development [1]. However, excessive or uncontrolled blood vessel growth can contribute to inflammatory diseases, tumor progression, and vision-threatening eye conditions [2]. Conversely, insufficient blood vessel growth can impair tissue recovery and worsen cardiovascular diseases [3].
Variant Impact: This variant, located in the regulatory region of the VEGFA gene, directly influences how much VEGF protein is produced in various tissues [1]. The C allele is functionally linked to significantly higher gene expression and elevated VEGF levels, particularly in retinal tissues [1]. Higher levels of VEGF promote robust blood vessel growth, which can protect some tissues but also increase susceptibility to inflammatory and vascular complications [3]. The G allele is associated with lower baseline expression of the growth factor [1].
Read on the Training Response page
Key Insight: Higher expression of the VEGFA gene can act as a double-edged sword, promoting tissue healing while simultaneously increasing the risk of inflammatory blood vessel growth in the eyes and heart.
Location: VEGFA. Chromosome 6 · 6p21.1 · 43.8 Mb
Estimated prevalence by population
Global 10.2%; European 9.9%; African 10.5%; East Asian 16.4%; South Asian 7.5%; Americas 12.0%; Ashkenazi 16.9%; Finnish 5.3%; Middle Eastern 13.2%; Amish 3.9%.
Estimated CC genotype frequency.
Global 43.1%; European 43.1%; African 43.9%; East Asian 48.2%; South Asian 39.7%; Americas 45.2%; Ashkenazi 48.4%; Finnish 35.5%; Middle Eastern 46.3%; Amish 31.6%.
Estimated CG genotype frequency.
Global 46.6%; European 47.0%; African 45.6%; East Asian 35.5%; South Asian 52.8%; Americas 42.8%; Ashkenazi 34.7%; Finnish 59.2%; Middle Eastern 40.5%; Amish 64.6%.
Estimated GG genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Heart Disease. Evidence: 3/10. Source: PMID 27704620. Increased Risk.
Organ Systems
Vision & Eye Health
Diabetic Retinopathy. Evidence: 4/10. Source: PMID 11978667. Increased Risk.
Endocrine & Reproductive
Female Reproductive Health & Fertility
Endometriosis. Evidence: 3/10. Source: PMID 26075076. Increased Risk.
Pharmacogenomics
Chemotherapy Response
Sunitinib Response. Evidence: 6/10. Source: PMID 21882181. Poorer Response.
Showing effects for C/G genotype
Endometriosis. Evidence: 3/10. Source: PMID 26075076. Typical Risk.
Sunitinib Response. Evidence: 6/10. Source: PMID 21882181. Improved Response.
Showing effects for G/G genotype
Heart Disease. Evidence: 3/10. Source: PMID 27704620. Typical Risk.
Diabetic Retinopathy. Evidence: 4/10. Source: PMID 11978667. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Having two copies of the C allele leads to significantly higher expression of the VEGFA gene and elevated levels of the VEGF protein [1]. This excess growth factor promotes overactive blood vessel formation, which is strongly linked to an increased risk of coronary artery disease and severe heart complications [2]. In the eyes, high VEGF levels can cause abnormal, fragile blood vessels to grow in the retina, significantly raising the risk of diabetic retinopathy [3]. Women with this genotype also face a higher susceptibility to endometriosis, as blood vessel growth supports the survival of displaced endometrial tissue [4]. Additionally, this genotype is associated with a poorer response to certain cancer therapies like sunitinib, but may show improved survival when treated with pazopanib [5].
Increased risk of coronary artery disease; Higher risk of diabetic retinopathy; Elevated risk of endometriosis.
Sample genotype: CG (Heterozygous)
Carrying one C allele and one G allele results in intermediate to high expression of the VEGFA gene [1]. This moderate elevation in VEGF protein levels is associated with an increased risk of developing coronary artery disease and experiencing myocardial infarction compared to the G/G baseline [2]. The increased vascular activity also elevates the risk of diabetic retinopathy, a condition characterized by abnormal blood vessel growth in the retina [3]. Unlike the C/C genotype, this heterozygous state does not significantly increase the risk of endometriosis [4]. In terms of medication response, individuals with this genotype may experience improved survival outcomes when treated with the cancer drug sunitinib, though they also have a higher likelihood of developing drug-induced high blood pressure [5].
Moderately increased risk of coronary artery disease; Increased risk of diabetic retinopathy; Improved survival response to sunitinib therapy.
Sample genotype: GG (Homozygous)
Having two copies of the G allele is associated with lower baseline expression of the VEGFA gene and typical levels of the VEGF protein [1]. This lower level of growth factor helps prevent the excessive, abnormal blood vessel growth that drives several chronic conditions [2]. Consequently, this genotype is associated with a lower, typical risk of coronary artery disease and myocardial infarction compared to C allele carriers [2]. It also provides significant protection against diabetic retinopathy, as there is less stimulus for fragile blood vessels to develop in the retina [3]. Furthermore, the risk of developing endometriosis remains at the typical population baseline [4]. For those undergoing specific medical treatments, this genotype is linked to improved survival rates when taking the cancer medication sunitinib [5].
Typical risk of coronary artery disease; Lower risk of diabetic retinopathy; Typical risk of endometriosis.
Variants with shared genetic architecture
rs833061 · VEGFA Gene · Chr 6 · Blood and Joint Health
rs699947 · VEGFA Gene · Chr 6 · Thyroid Cancer Risk
rs1570360 · VEGFA Gene · Chr 6 · Blood Vessel Health
Content updated August 2026.
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