What you carry at this position in your DNA and what research says about it.
Macular Degeneration Risk: 10/10 evidence, 34 publications.
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Sample genotype (not yours): G/G
Lower Macular Degeneration Risk
This genotype is associated with a lower risk of developing age-related macular degeneration. It may, however, slightly increase blood pressure and triglyceride levels.
What this genotype means: Lower risk of age-related macular degeneration; Slightly higher bone mineral density; Slightly higher blood pressure and triglycerides.
Sample genotype (not yours): A/A
Higher Macular Degeneration Risk
Two copies of the risk allele significantly increase the risk of age-related macular degeneration. However, this genotype is associated with slightly lower blood pressure and triglycerides.
What this genotype means: Higher risk of age-related macular degeneration; Slightly lower blood pressure and triglycerides; Slightly lower bone mineral density.
Sample genotype (not yours): G/A
Increased Macular Degeneration Risk
Carrying one copy of the risk allele is linked to an increased likelihood of developing age-related macular degeneration. Cardiovascular and bone markers generally remain near population averages.
What this genotype means: Increased risk of age-related macular degeneration; Typical blood pressure and lipid levels; Typical bone mineral density.
Gene function and biological role
Gene Function: The VTN gene provides instructions for producing vitronectin, a multifunctional glycoprotein abundant in blood plasma and the extracellular matrix of various tissues [1]. Vitronectin plays a key role in cell adhesion, tissue remodeling, and regulating the complement system, which is a vital part of the innate immune response [1]. In the eye, vitronectin is a major component of the extracellular deposits, such as drusen, that accumulate beneath the retina [2]. Dysregulation of vitronectin and its interactions with other proteins can lead to localized inflammation and vascular changes in the retina [3]. Consequently, genetic variations in this gene are heavily studied for their impact on vision loss and systemic vascular health [2].
Variant Impact: The rs704 variant is a missense mutation in the VTN gene that causes an amino acid substitution from threonine to methionine at position 400 of the vitronectin protein [4]. This specific structural change alters the expression, secretion, and chemical processing of vitronectin in retinal pigment epithelial cells [2]. The variant protein exhibits a significantly reduced capacity to bind to retinal and endothelial cells, which disrupts normal extracellular matrix organization [2]. Additionally, this change alters how vitronectin interacts with key vascular regulators like plasminogen activator inhibitor 1, contributing to age-related vascular complications [5]. These functional alterations directly link the variant to the formation of abnormal deposits in the eye and elevated disease susceptibility [2].
Key Insight: The rs704 variant directly alters how vitronectin binds to retinal cells, reducing its binding capacity by up to eighty percent and promoting the formation of vision-disrupting deposits.
Location: VTN. Chromosome 17 · 17q11.2 · 28.4 Mb
Estimated prevalence by population
Global 23.9%; European 27.2%; African 18.4%; East Asian 7.7%; South Asian 28.1%; Americas 19.7%; Ashkenazi 28.3%; Finnish 35.3%; Middle Eastern 27.8%; Amish 23.4%.
Estimated GG genotype frequency.
Global 49.1%; European 49.9%; African 49.0%; East Asian 40.0%; South Asian 49.8%; Americas 49.4%; Ashkenazi 49.8%; Finnish 48.2%; Middle Eastern 49.9%; Amish 49.9%.
Estimated GA genotype frequency.
Global 26.9%; European 22.9%; African 32.6%; East Asian 52.3%; South Asian 22.1%; Americas 30.9%; Ashkenazi 21.9%; Finnish 16.5%; Middle Eastern 22.4%; Amish 26.7%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 10/10. Source: PMID 34648354. Lower Risk.
Bone, Joint & Connective Tissue Health
Bone Mineral Density. Evidence: 9/10. Source: PMID 30048462. Slightly Higher.
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 10/10. Source: PMID 33230300. Slightly Higher.
Lipids & Cholesterol
Triglycerides. Evidence: 10/10. Source: PMID 32203549. Slightly Higher.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29083408. Slightly Lower.
Immunity & Inflammation
Autoimmune Diseases
Temporal Arteritis. Evidence: 6/10. Source: PMID 38734017. ~1.2x Higher Risk.
Showing effects for A/A genotype
Macular Degeneration. Evidence: 10/10. Source: PMID 34648354. Higher Risk.
Bone Mineral Density. Evidence: 9/10. Source: PMID 30048462. Slightly Lower.
Blood Pressure. Evidence: 10/10. Source: PMID 33230300. Slightly Lower.
Triglycerides. Evidence: 10/10. Source: PMID 32203549. Slightly Lower.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29083408. Slightly Higher.
Temporal Arteritis. Evidence: 6/10. Source: PMID 38734017. Lower Risk.
Showing effects for G/A genotype
Macular Degeneration. Evidence: 10/10. Source: PMID 34648354. Increased Risk.
Bone Mineral Density. Evidence: 9/10. Source: PMID 30048462. Typical.
Blood Pressure. Evidence: 10/10. Source: PMID 33230300. Typical.
Triglycerides. Evidence: 10/10. Source: PMID 32203549. Typical.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29083408. Typical.
Temporal Arteritis. Evidence: 6/10. Source: PMID 38734017. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele means the body produces the threonine-encoding version of the vitronectin protein [1]. This version binds efficiently to retinal cells, helping maintain the integrity of the extracellular matrix in the eye and reducing the formation of harmful deposits [2]. Large-scale genetic studies show that this efficient binding translates to a lower risk of neovascular macular degeneration [2]. On the other hand, the G allele is associated with a very modest increase in both systolic and diastolic blood pressure [3]. It is also linked to slightly higher circulating triglyceride levels and a minor increase in the risk of temporal arteritis [4]. Conversely, this genotype correlates with slightly higher heel bone mineral density, which is generally protective against osteoporosis [5].
Lower risk of age-related macular degeneration; Slightly higher bone mineral density; Slightly higher blood pressure and triglycerides.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele results in the exclusive production of the methionine-encoding vitronectin isoform [1]. This specific protein variant has a severely compromised ability to bind to retinal pigment epithelial cells, leading to poor extracellular matrix organization [2]. Over time, this functional defect facilitates the deposition of drusen and other abnormal materials beneath the retina, substantially increasing the risk of neovascular macular degeneration [2]. Interestingly, this genotype offers some systemic cardiovascular benefits, as it is associated with slightly lower systolic and diastolic blood pressure [3]. It is also linked to lower circulating triglyceride levels and a reduced risk of temporal arteritis [4]. These cardiovascular benefits are accompanied by a slight increase in LDL cholesterol and a minor reduction in heel bone mineral density [5].
Higher risk of age-related macular degeneration; Slightly lower blood pressure and triglycerides; Slightly lower bone mineral density.
Sample genotype: GA (Heterozygous)
This heterozygous genotype means the body produces a mixture of both the threonine and methionine vitronectin protein isoforms [1]. The presence of the methionine-encoding A allele alters the overall secretion and processing of vitronectin in the eye [2]. This mixture leads to a moderate reduction in the protein's ability to bind to retinal cells, which can promote the gradual accumulation of cellular debris under the retina [2]. Consequently, clinical data associates this genotype with an elevated risk of neovascular macular degeneration compared to the protective genotype [2]. Because this is an intermediate state, the minor blood pressure and lipid-raising effects of the G allele are largely balanced out by the A allele [3]. Bone mineral density and LDL cholesterol levels also tend to remain close to typical baseline levels [4].
Increased risk of age-related macular degeneration; Typical blood pressure and lipid levels; Typical bone mineral density.
Variants with shared genetic architecture
rs10468017 · LIPC Gene · Chr 15 · Cholesterol and Eye Health
rs10490924 · ARMS2 Gene · Chr 10 · Macular Degeneration Risk
rs800292 · CFH Gene · Chr 1 · Macular Degeneration Risk
Genomic atlas of the human plasma proteome.
Mapping the proteo-genomic convergence of human diseases.
Exome-wide association study of plasma lipids in >300,000 individuals.
Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.
Content updated August 2026.
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