What you carry at this position in your DNA and what research says about it.
Thyroid Cancer Risk: 8/10 evidence, 61 publications.
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Sample genotype (not yours): A/A
Increased Thyroid Cancer Risk in Men
A slightly higher risk of thyroid cancer and lymph node metastasis in men characterizes the A/A genotype. It also correlates with an improved response to certain blood pressure medications.
What this genotype means: Slightly higher risk of thyroid cancer in men; Better blood pressure response to enalapril; Slightly higher red blood cell count.
Sample genotype (not yours): A/C
A slightly elevated risk of thyroid cancer in men is associated with the A/C genotype. It also correlates with an improved response to enalapril for blood pressure control.
Sample genotype (not yours): C/C
Typical Thyroid Cancer Risk
Typical risk of thyroid cancer is expected with the C/C genotype. It is also linked to a better response to several cancer therapies but a standard response to blood pressure medications.
What this genotype means: Typical thyroid cancer risk; Standard blood pressure response to enalapril; Better response to several chemotherapy drugs.
Gene function and biological role
Gene Function: VEGFA 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 tissue healing, embryonic development, and oxygen delivery [1]. However, abnormal blood vessel growth can also fuel tumor progression by supplying cancer cells with nutrients and oxygen [1]. VEGFA also plays a role in regulating blood pressure by promoting nitric oxide-mediated vasodilation [2].
Variant Impact: The rs699947 variant is located in the promoter region of the VEGFA gene and influences how much VEGF-A protein is produced [3]. The C allele is associated with higher levels of VEGF-A and its specific isoforms [3]. Conversely, the A allele is linked to lower overall VEGF-A expression [3]. This difference in protein levels affects several physiological processes, including blood vessel formation, blood pressure regulation, and response to certain medications [2] [4].
Key Insight: This variant influences how well your body responds to common blood pressure medications and cancer therapies by altering blood vessel growth.
Location: VEGFA. Chromosome 6 · 6p21.1 · 43.8 Mb
Estimated prevalence by population
Global 17.9%; European 24.9%; African 4.5%; East Asian 7.7%; South Asian 20.0%; Americas 15.0%; Ashkenazi 21.4%; Finnish 30.6%; Middle Eastern 19.9%; Amish 52.2%.
Estimated AA genotype frequency.
Global 44.7%; European 50.0%; African 33.3%; East Asian 40.0%; South Asian 49.5%; Americas 47.5%; Ashkenazi 49.7%; Finnish 49.4%; Middle Eastern 49.4%; Amish 40.1%.
Estimated AC genotype frequency.
Global 37.4%; European 25.1%; African 62.2%; East Asian 52.3%; South Asian 30.5%; Americas 37.5%; Ashkenazi 28.9%; Finnish 20.0%; Middle Eastern 30.7%; Amish 7.7%.
Estimated CC genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Thyroid & Endocrine Cancers
Thyroid Cancer. Evidence: 3/10. Source: PMID 33447413. Increased Risk.
Pharmacogenomics
Cardiovascular Drug Response
Blood Pressure Drug Response. Evidence: 5/10. Source: PMID 26002049. Stronger Response.
Chemotherapy Response
Cancer Drug Response. Evidence: 5/10. Source: PMID 25955730. Poorer Response.
Cardiovascular & Metabolic
Blood Cell & Iron Traits
Red Blood Cell Count. Evidence: 8/10. Source: PMID 39024449. Slightly Higher.
Showing effects for A/C genotype
Showing effects for C/C genotype
Thyroid Cancer. Evidence: 3/10. Source: PMID 33447413. Typical Risk.
Blood Pressure Drug Response. Evidence: 5/10. Source: PMID 26002049. Typical Response.
Cancer Drug Response. Evidence: 5/10. Source: PMID 25955730. Stronger Response.
Red Blood Cell Count. Evidence: 8/10. Source: PMID 39024449. Typical.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
A 1.36-fold increased risk of thyroid cancer and regional lymph node metastasis in men is associated with the A/A genotype [1]. This genetic variation is thought to lower the production of VEGF-A, a protein crucial for blood vessel growth [2]. While lower VEGF-A levels may limit tumor blood supply, the exact mechanism behind the increased cancer risk remains under study [1]. On the positive side, individuals with this genotype often show a more pronounced decrease in blood pressure when treated with the medication enalapril [3]. However, they may have a poorer response to certain cancer therapies like pazopanib [4]. They also tend to have slightly higher red blood cell counts and hemoglobin levels [5].
Slightly higher risk of thyroid cancer in men; Better blood pressure response to enalapril; Slightly higher red blood cell count.
Sample genotype: AC (Heterozygous)
A slightly higher risk of thyroid cancer and lymph node metastasis in men is linked to the heterozygous A/C genotype [1]. This genotype is associated with intermediate levels of VEGF-A expression, which influences blood vessel development [2]. In clinical settings, individuals with this genotype show a significantly better blood pressure reduction when taking the ACE inhibitor enalapril [3]. Conversely, they may experience a poorer response to certain anti-angiogenic cancer treatments like pazopanib [4]. They also tend to have slightly higher red blood cell counts compared to those with the CC genotype [5].
Sample genotype: CC (Homozygous)
The baseline risk for thyroid cancer is typical for those with the C/C genotype [1]. This genotype is associated with higher baseline levels of VEGF-A, which promotes robust blood vessel growth [2]. While this supports normal tissue vascularization, it also means a standard response to the blood pressure drug enalapril [3]. In cancer treatment, however, the C/C genotype is associated with a significantly better response and increased survival when treated with therapies like pazopanib, capecitabine, and oxaliplatin [4] [5]. They also tend to have typical red blood cell counts and hemoglobin levels [6].
Typical thyroid cancer risk; Standard blood pressure response to enalapril; Better response to several chemotherapy drugs.
Variants with shared genetic architecture
rs833061 · VEGFA Gene · Chr 6 · Blood and Joint Health
rs1570360 · VEGFA Gene · Chr 6 · Blood Vessel Health
rs2010963 · VEGFA Gene · Chr 6 · Heart and Eye Health
Polymorphisms in VEGFA gene affect the antihypertensive responses to enalapril.
Mapping the proteo-genomic convergence of human diseases.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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