What you carry at this position in your DNA and what research says about it.
Macular Degeneration Risk: 10/10 evidence, 68 publications.
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Sample genotype (not yours): G/G
Typical Macular Degeneration Risk
Carrying two copies of the common G allele is associated with a baseline, typical risk for age-related macular degeneration.
What this genotype means: Baseline risk for age-related macular degeneration; Normal ARMS2 protein expression and retinal debris clearance.
Sample genotype (not yours): G/T
~2.7x Increased Macular Degeneration Risk
Carrying one copy of the T allele moderately increases the risk of developing age-related macular degeneration.
What this genotype means: Approximately 2.7-fold higher risk of macular degeneration; Compounded risk when combined with smoking or poor diet; Potentially better response to anti-VEGF eye therapies.
Sample genotype (not yours): T/T
~8.2x Increased Macular Degeneration Risk
Carrying two copies of the T allele significantly elevates the risk of developing age-related macular degeneration.
What this genotype means: Approximately 8.2-fold higher risk of macular degeneration; Accelerated accumulation of retinal debris and drusen.
Gene function and biological role
Gene Function: The ARMS2 gene encodes the age-related maculopathy susceptibility 2 protein, which is primarily expressed in the human retina, particularly within the microglia and monocytes [1]. This protein plays a key role in the complement system, helping to clear cellular debris and protect retinal tissues from oxidative stress [1]. When the protein is deficient or altered, cellular waste products like proteins and lipids can accumulate on Bruch's membrane, forming deposits known as drusen [1]. These drusen are a hallmark of age-related macular degeneration and can lead to progressive vision loss [1].
Variant Impact: This missense variant, also known as p.Ala69Ser or A69S, changes the amino acid at position 69 of the ARMS2 protein from alanine to serine. This specific molecular change is strongly linked to mRNA instability, which significantly reduces the overall expression of the ARMS2 protein in the retina [2]. Without adequate levels of this protein, the eye's ability to clear cellular debris under oxidative stress is compromised [2]. Consequently, this variant is recognized globally as one of the most significant genetic risk factors for both dry and wet forms of age-related macular degeneration [3].
Key Insight: The risk of macular degeneration associated with this variant is significantly amplified by environmental factors like cigarette smoking. Additionally, this variant is in perfect linkage disequilibrium with other key regulatory variants on chromosome 10, making it a highly accurate predictor of genetic susceptibility.
Location: ARMS2. Chromosome 10 · 10q26.13 · 122.5 Mb
Estimated prevalence by population
Global 58.8%; European 60.9%; African 59.4%; East Asian 34.2%; South Asian 46.5%; Americas 58.9%; Ashkenazi 63.5%; Finnish 58.5%; Middle Eastern 63.7%; Amish 50.5%.
Estimated GG genotype frequency.
Global 35.6%; European 34.3%; African 35.3%; East Asian 48.6%; South Asian 43.4%; Americas 35.7%; Ashkenazi 32.4%; Finnish 36.0%; Middle Eastern 32.3%; Amish 41.1%.
Estimated GT genotype frequency.
Global 5.6%; European 4.8%; African 5.3%; East Asian 17.2%; South Asian 10.1%; Americas 5.4%; Ashkenazi 4.1%; Finnish 5.5%; Middle Eastern 4.1%; Amish 8.4%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 10/10. Source: PMID 23455636. Typical Risk.
Wet Macular Degeneration. Evidence: 10/10. Source: PMID 28703135. Typical Risk.
Dry Macular Degeneration. Evidence: 10/10. Source: PMID 22705344. Typical Risk.
Retinopathy. Evidence: 8/10. Source: PMID 39024449. Typical Risk.
Refractive Error. Evidence: 6/10. Source: PMID 35022715. Increased Risk.
Pharmacogenomics
Drug Metabolism Enzyme Activity
Treatment Response. Evidence: 5/10. Source: PMID 22594510. Typical Response.
Showing effects for G/T genotype
Macular Degeneration. Evidence: 10/10. Source: PMID 23455636. ~2.7x Increased Risk.
Wet Macular Degeneration. Evidence: 10/10. Source: PMID 28703135. Increased Risk.
Dry Macular Degeneration. Evidence: 10/10. Source: PMID 22705344. Increased Risk.
Retinopathy. Evidence: 8/10. Source: PMID 39024449. Increased Risk.
Refractive Error. Evidence: 6/10. Source: PMID 35022715. Typical Risk.
Treatment Response. Evidence: 5/10. Source: PMID 22594510. Stronger Response.
Showing effects for T/T genotype
Macular Degeneration. Evidence: 10/10. Source: PMID 23455636. ~8.2x Increased Risk.
Wet Macular Degeneration. Evidence: 10/10. Source: PMID 28703135. Highly Increased Risk.
Dry Macular Degeneration. Evidence: 10/10. Source: PMID 22705344. Highly Increased Risk.
Retinopathy. Evidence: 8/10. Source: PMID 39024449. Highly Increased Risk.
Treatment Response. Evidence: 5/10. Source: PMID 22594510. Variable Response.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having two copies of the reference G allele means the ARMS2 protein is produced normally and functions as expected in the retina [1]. This typical protein level helps maintain proper clearance of cellular debris, protecting the macula from premature degeneration [1]. Consequently, there is no elevated genetic risk for either the dry or wet forms of age-related macular degeneration from this specific locus [2]. However, general aging, UV exposure, and dietary habits still influence overall eye health over time [3].
Baseline risk for age-related macular degeneration; Normal ARMS2 protein expression and retinal debris clearance.
Sample genotype: GT (Heterozygous)
Possessing one copy of the T risk allele leads to a moderate reduction in functional ARMS2 protein levels in the retina [1]. This reduction can impair the clearance of cellular waste, leading to a higher likelihood of drusen accumulation [1]. Clinical studies show this genotype is associated with an approximate 2.7-fold increase in the risk of developing age-related macular degeneration [2]. This risk is heavily influenced by lifestyle factors, with smoking dramatically compounding the genetic susceptibility [3]. Some evidence suggests that carriers of this genotype may experience a more favorable response to specific anti-VEGF treatments like bevacizumab if wet macular degeneration develops [4].
Approximately 2.7-fold higher risk of macular degeneration; Compounded risk when combined with smoking or poor diet; Potentially better response to anti-VEGF eye therapies.
Sample genotype: TT (Homozygous)
Having two copies of the T risk allele results in a severe deficiency of the ARMS2 protein in retinal tissues [1]. This deficiency significantly hinders the complement-mediated clearance of cellular debris, accelerating the formation of drusen and retinal damage [1]. Research indicates this genotype carries an approximate 8.2-fold increase in the risk of developing age-related macular degeneration [2]. The risk of progressing to advanced stages, including both geographic atrophy and neovascularization, is highly elevated [3]. Smoking acts as a powerful environmental trigger that further multiplies this risk [4]. Clinical trials have explored whether specific nutritional supplements can help slow disease progression in individuals with this high-risk genetic profile [5].
Approximately 8.2-fold higher risk of macular degeneration; Accelerated accumulation of retinal debris and drusen.
Variants with shared genetic architecture
rs10490923 · ARMS2 Gene · Chr 10 · Blood Pressure
rs3750846 · ARMS2 Gene · Chr 10 · Macular Degeneration Risk
rs2736911 · ARMS2 Gene · Chr 10 · Retinal Disease Risk
Seven new loci associated with age-related macular degeneration.
Content updated September 2026.
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