What you carry at this position in your DNA and what research says about it.
Cardiovascular and Eye Health: 6/10 evidence, 21 publications.
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Sample genotype (not yours): A/A
Lower Macular Degeneration Risk but Typical Stroke Risk
This genotype is linked to a significantly lower risk of developing age-related macular degeneration. However, it does not provide the protective cardiovascular benefits against stroke seen with other genotypes.
What this genotype means: Significantly lower risk of age-related macular degeneration; Typical baseline risk for atherothrombotic stroke.
Sample genotype (not yours): A/G
Balanced Vascular Risk Profile
Carrying one copy of each allele provides a moderate balance, offering partial protection against both macular degeneration and stroke.
What this genotype means: Moderate protection against macular degeneration; Reduced risk of atherothrombotic stroke.
Sample genotype (not yours): G/G
Lower Stroke Risk but Higher Macular Degeneration Risk
This genotype is highly protective against atherothrombotic stroke, but it is associated with an increased risk of age-related macular degeneration.
What this genotype means: Significantly lower risk of atherothrombotic stroke; Increased risk of age-related macular degeneration.
Gene function and biological role
Gene Function: The KDR gene encodes vascular endothelial growth factor receptor 2, a primary receptor that drives the growth and maintenance of blood vessels. This receptor binds to signaling proteins to initiate angiogenesis, the process of forming new blood vessels from pre-existing ones. Proper functioning of this pathway is essential for maintaining healthy circulation in the retina, kidneys, and cardiovascular system. However, overactive or underactive vessel growth can contribute to conditions like macular degeneration, stroke, and diabetic kidney complications.
Variant Impact: The rs2071559 variant is a single nucleotide polymorphism located in the promoter region of the KDR gene. This genetic change alters transcription factor binding, which directly modulates how much of the receptor is produced. The G allele is associated with reduced promoter activity and lower receptor expression, whereas the A allele maintains higher expression levels. This difference in vessel-growth signaling creates a trade-off, protecting against certain vascular diseases while increasing susceptibility to others.
Key Insight: This variant acts as a genetic double-edged sword, where the same allele that protects your eyes from macular degeneration can simultaneously increase your susceptibility to certain types of stroke.
Location: KDR. Chromosome 4 · 4q12 · 55.1 Mb
Estimated prevalence by population
Global 23.4%; European 25.0%; African 12.9%; East Asian 44.0%; South Asian 21.4%; Americas 33.6%; Ashkenazi 20.8%; Finnish 32.3%; Middle Eastern 25.0%; Amish 13.6%.
Estimated AA genotype frequency.
Global 48.5%; European 50.0%; African 46.0%; East Asian 44.7%; South Asian 49.7%; Americas 48.7%; Ashkenazi 49.6%; Finnish 49.1%; Middle Eastern 50.0%; Amish 46.5%.
Estimated AG genotype frequency.
Global 28.1%; European 25.0%; African 41.1%; East Asian 11.3%; South Asian 28.8%; Americas 17.7%; Ashkenazi 29.6%; Finnish 18.6%; Middle Eastern 25.0%; Amish 39.9%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 4/10. Source: PMID 20019880. ~2.4x Lower Risk.
Kidney Function & Disease
Diabetic Kidney Disease. Evidence: 3/10. Source: PMID 25128838. Typical Risk.
Cardiovascular & Metabolic
Stroke
Stroke. Evidence: 3/10. Source: PMID 19520980. Typical Risk.
Pharmacogenomics
Chemotherapy Response
Cancer Drug Response. Evidence: 6/10. Source: PMID 39864574. Typical Response.
Showing effects for A/G genotype
Macular Degeneration. Evidence: 4/10. Source: PMID 20019880. Lower Risk.
Diabetic Kidney Disease. Evidence: 3/10. Source: PMID 25128838. Increased Risk.
Stroke. Evidence: 3/10. Source: PMID 19520980. ~22% Lower Risk.
Cancer Drug Response. Evidence: 6/10. Source: PMID 39864574. Poorer Response.
Showing effects for G/G genotype
Macular Degeneration. Evidence: 4/10. Source: PMID 20019880. ~1.9x Higher Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Clinical studies indicate that individuals carrying the A/A genotype have a significantly reduced risk of developing neovascular age-related macular degeneration. This protective effect is thought to stem from optimal regulation of blood vessel growth in the retina, preventing the leaky vessel formation that characterizes the disease. Conversely, this genotype does not carry the protective cardiovascular benefits associated with the G allele. Research shows that A/A carriers have a typical baseline susceptibility to atherothrombotic stroke and normal carotid artery wall thickness. In the context of diabetic complications, this genotype is generally associated with a typical risk profile for kidney issues. If undergoing cancer treatment, individuals with this genotype may show a more favorable response to anti-angiogenic medications compared to G allele carriers.
Significantly lower risk of age-related macular degeneration; Typical baseline risk for atherothrombotic stroke.
Sample genotype: AG (Heterozygous)
Having the heterozygous A/G genotype represents a biological middle ground for blood vessel growth and vascular health. Individuals with this genotype benefit from a reduced risk of age-related macular degeneration compared to those with the G/G genotype. Simultaneously, the presence of the G allele provides a protective cardiovascular effect, lowering the susceptibility to atherothrombotic stroke by approximately 22%. This dual benefit makes the A/G genotype highly balanced, though it also carries minor trade-offs. For instance, G allele carriers with type 2 diabetes may have a slightly elevated risk of developing diabetic nephropathy. Additionally, if treated with anti-angiogenic cancer therapies like sorafenib, clinical outcomes and survival rates may be slightly reduced compared to the A/A genotype.
Moderate protection against macular degeneration; Reduced risk of atherothrombotic stroke.
Sample genotype: GG (Homozygous)
Individuals with the G/G genotype have a significantly reduced susceptibility to atherothrombotic stroke and a lower risk of stroke recurrence. This cardiovascular protection is closely linked to a lower carotid artery intima-media thickness, indicating healthier arterial walls. However, this genotype is also associated with a nearly twofold higher risk of developing neovascular age-related macular degeneration. In diabetic populations, the G/G genotype has been linked to a higher risk of diabetic nephropathy, requiring careful monitoring of kidney function. Furthermore, in oncology settings, patients with this genotype show a decreased likelihood of survival when treated with anti-angiogenic therapies such as sorafenib or apatinib.
Significantly lower risk of atherothrombotic stroke; Increased risk of age-related macular degeneration.
Variants with shared genetic architecture
rs1870377 · KDR Gene · Chr 4 · Blood Vessel Growth
rs2305948 · KDR Gene · Chr 4 · Stroke and Heart Risk
rs10468017 · LIPC Gene · Chr 15 · Cholesterol and Eye Health
Content updated August 2026.
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