VEGFA rs699947: What Your Genotype Means
The rs699947 variant is a single nucleotide polymorphism located in the promoter region of the VEGFA gene. It has been studied for its potential role in regulating vascular endothelial growth factor expression and its statistical associations with conditions like diabetic retinopathy and atherosclerosis.
What each genotype means
Baseline VEGFA expression
This genotype represents the common variant often used as a reference point in studies of the VEGFA promoter. Research into this region suggests it may influence the regulation of vascular endothelial growth factor, though associations with conditions like diabetic retinopathy remain complex and vary significantly by population.
This is a common genotype found globally, though frequencies vary by ancestral background.
Intermediate VEGFA expression profile
Individuals with this heterozygous genotype carry one copy of each allele, which may result in intermediate levels of VEGFA expression compared to homozygous individuals. Studies have investigated whether this variation contributes to susceptibility for microvascular complications, but results are inconsistent and likely depend on environmental and other genetic factors.
This heterozygous combination is frequently observed across diverse global populations.
Potential altered VEGFA regulation
This genotype has been studied for its potential association with altered VEGFA expression levels and a possible increased risk for certain vascular conditions, such as diabetic retinopathy. Because the evidence is limited and often specific to certain ethnic groups, this finding should not be used for medical diagnosis; please discuss any concerns regarding vascular health with your clinician.
This genotype is less common than the CC or CA combinations in many populations, though it remains a well-documented variant.
Understanding the rs699947 Variant
The rs699947 variant is a specific genetic change, often referred to as a -2578C/A polymorphism, situated within the promoter region of the VEGFA gene. A promoter region acts as a control switch for a gene, determining how much of a protein is produced by the cell. Because this variant sits in a regulatory area, researchers have long hypothesized that it may influence the baseline levels of the VEGF protein in the body. By changing the DNA sequence at this specific location, the variant might alter the binding affinity of transcription factors, which are proteins that turn genes on or off. While this mechanism is biologically plausible, the actual impact on protein levels can be subtle and may vary depending on other genetic and environmental factors present in an individual.
The Role of the VEGFA Gene
The VEGFA gene provides instructions for making a protein called vascular endothelial growth factor A. This protein is a critical signaling molecule that stimulates the growth, division, and migration of endothelial cells, which line the interior surface of blood vessels. By promoting the formation of new blood vessels—a process known as angiogenesis—VEGFA plays a vital role in normal development and wound healing. However, because it is so powerful at stimulating blood vessel growth, it is also heavily involved in pathological processes. When VEGFA is overexpressed, it can contribute to conditions characterized by abnormal blood vessel growth or increased vascular permeability. This is why the gene is a major focus in research concerning tumor growth, where it helps supply blood to cancer cells, and in microvascular complications associated with chronic conditions like diabetes.
Research and Clinical Associations
Scientific research has investigated the link between rs699947 and various health outcomes, particularly those involving the circulatory system. Several studies have observed statistical associations between this variant and an increased risk of proliferative diabetic retinopathy, a condition where damaged blood vessels in the retina can lead to vision loss. Additionally, some research has explored its potential connection to atherosclerosis and cardiovascular risk, often in the context of how it might influence lipid profiles or systemic inflammation. It is important to note that the evidence for these associations is considered limited and sometimes mixed across different study populations. Genetic associations are rarely deterministic; they represent statistical trends observed in large groups rather than individual medical predictions. Many factors, including lifestyle, diet, and other genetic markers, contribute to the development of complex diseases like retinopathy or heart disease.
Interpreting Your Genetic Information
If you have access to your genetic data regarding rs699947, it is helpful to view this information as a small piece of a much larger biological puzzle. Because the evidence linking this specific SNP to clinical outcomes is not definitive, it cannot be used to diagnose any condition or predict your personal health future. Genetic predisposition is only one component of health, and it often carries less weight than established clinical markers like blood pressure, blood glucose levels, or cholesterol. You should never use information about a single variant to make decisions about your medical care or to alter any prescribed treatments. If you have concerns about your vascular health or your risk for conditions like diabetes, the most effective approach is to discuss your family history and clinical test results with a qualified healthcare provider who can provide personalized guidance.
How common is this variant?
The rs699947 variant is common, with a minor allele frequency typically ranging between 0.35 and 0.45 across diverse global populations.
Frequently asked questions
Is rs699947 a diagnostic test for diabetes?
No, rs699947 is not a diagnostic test for diabetes or any other condition. It is a common genetic variant that has been studied for its statistical association with certain complications, but it does not determine whether you will develop a disease.
Can I change my VEGFA expression through diet?
While some research explores how lifestyle factors interact with gene expression, there is no evidence that you can specifically target or change the expression of the VEGFA gene through diet alone. Always focus on general healthy habits recommended by your doctor.
What should I do if I have the AA genotype?
The AA genotype is a common variation and does not require any specific medical action. If you are concerned about your health, focus on standard clinical screenings and discuss your overall health profile with your physician.
Where can I find more information on VEGFA?
You can find reliable information about the VEGFA gene and its functions on resources like MedlinePlus Genetics or the NCBI Gene database. These sites provide comprehensive summaries of gene function and known associations.
Sources & further reading
Educational information only, last refreshed 9/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs699947?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in VEGFA
A well-studied promoter/5'-UTR regulatory variant (-634G>C) altering VEGFA expression, associated with circulating VEGF levels and diabetic microvascular risk.
A regulatory variant in the VEGFA locus associated with age-related macular degeneration (AMD) risk and response to anti-VEGF therapy; functional studies suggest it influences VEGFA expression in retinal pigment epithelium.
Functional promoter variant in VEGFA influencing angiogenic expression profiles that modulate risk for preeclampsia and recurrent pregnancy loss.
Influences the body's natural levels of Vascular Endothelial Growth Factor.
This polymorphism in the VEGFA gene is studied for its potential impact on the response to anti-VEGF therapy in age-related macular degeneration.
This SNP shows a nominal association with bleeding susceptibility in patients treated with warfarin.