What you carry at this position in your DNA and what research says about it.
Macular Degeneration Risk: 6/10 evidence, 35 publications.
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Sample genotype (not yours): G/G
Higher Risk of Macular Degeneration
Two copies of the G allele are associated with a higher risk of developing age-related macular degeneration. This genotype is also linked to lower levels of complement factor H, leading to increased inflammation in the retina.
What this genotype means: Higher risk of age-related macular degeneration; Lower serum complement factor H levels; Increased complement system activation.
Sample genotype (not yours): A/A
Typical Risk of Macular Degeneration
Two copies of the A allele are associated with a lower risk of age-related macular degeneration. This genotype supports healthy complement system regulation and is linked to thicker retinal layers.
What this genotype means: Lower risk of age-related macular degeneration; Greater retinal layer thickness; Optimal complement system regulation.
Sample genotype (not yours): G/A
Moderately Increased Risk of Macular Degeneration
One copy of the G allele is linked to a moderately increased risk of age-related macular degeneration. This genotype represents an intermediate state of complement system regulation and retinal thickness.
What this genotype means: Moderately increased risk of macular degeneration; Intermediate complement pathway regulation; Slightly reduced retinal layer thickness.
Gene function and biological role
Gene Function: The CFH gene encodes complement factor H, a critical regulatory protein in the immune system's complement pathway [1]. It acts as a natural brake to prevent the complement system from attacking the body's own healthy tissues [1]. When complement factor H function is altered, uncontrolled inflammation can damage delicate tissues, particularly in the eyes and kidneys [1]. This regulation is vital for maintaining cellular health and preventing chronic inflammatory diseases.
Variant Impact: The rs1410996 variant is a noncoding genetic change located within an intron of the CFH gene [2]. Although it does not directly alter the amino acid sequence of the complement factor H protein, it influences gene expression and protein levels [3]. This genetic variation is strongly linked to systemic complement activation and structural changes in the retina [4] [5]. It is one of the most widely studied genetic markers for susceptibility to age-related macular degeneration [2].
Key Insight: This noncoding variant can influence complement factor H levels in the blood, directly affecting how actively your immune system triggers inflammation in the eyes. Carrying the protective A allele is linked to thicker retinal layers, which may help preserve vision as you age.
Location: CFH. Chromosome 1 · 1q31.3 · 196.7 Mb
Estimated prevalence by population
Global 29.7%; European 35.0%; African 21.9%; East Asian 31.2%; South Asian 19.5%; Americas 25.3%; Ashkenazi 22.9%; Finnish 36.0%; Middle Eastern 31.1%; Amish 55.1%.
Estimated GG genotype frequency.
Global 48.9%; European 48.3%; African 49.8%; East Asian 49.3%; South Asian 49.3%; Americas 50.0%; Ashkenazi 49.9%; Finnish 48.0%; Middle Eastern 49.3%; Amish 38.3%.
Estimated GA genotype frequency.
Global 21.4%; European 16.7%; African 28.3%; East Asian 19.5%; South Asian 31.2%; Americas 24.7%; Ashkenazi 27.2%; Finnish 16.0%; Middle Eastern 19.6%; Amish 6.6%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 6/10. Source: PMID 23534868. Increased Risk.
Retinal Layer Thickness. Evidence: 6/10. Source: PMID 39904976. Reduced Thickness.
Respiratory Health
Lung Function. Evidence: 4/10. Source: PMID 26634245. Lower Ratio.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
Complement Activation. Evidence: 6/10. Source: PMID 34648354. Higher Activation.
Showing effects for A/A genotype
Macular Degeneration. Evidence: 6/10. Source: PMID 23534868. Typical Risk.
Retinal Layer Thickness. Evidence: 6/10. Source: PMID 39904976. Increased Thickness.
Lung Function. Evidence: 4/10. Source: PMID 26634245. Higher Ratio.
Complement Activation. Evidence: 6/10. Source: PMID 34648354. Typical Activation.
Showing effects for G/A genotype
Macular Degeneration. Evidence: 6/10. Source: PMID 23534868. Slightly Increased.
Retinal Layer Thickness. Evidence: 6/10. Source: PMID 39904976. Intermediate.
Lung Function. Evidence: 4/10. Source: PMID 26634245. Intermediate.
Complement Activation. Evidence: 6/10. Source: PMID 34648354. Intermediate.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Research associates the G/G genotype with a significantly increased susceptibility to age-related macular degeneration (AMD) [1]. Studies indicate that individuals with this genotype often exhibit lower blood serum levels of complement factor H, which reduces the body's ability to control local inflammation [2]. This chronic, low-grade inflammatory state can lead to the accumulation of cellular debris under the retina, contributing to vision loss [3]. Additionally, this genotype is linked to thinner retinal pigment epithelium layers and higher levels of complement activation markers like C3d [4] [5]. While genetics play a major role, environmental factors such as smoking can further compound these risks.
Higher risk of age-related macular degeneration; Lower serum complement factor H levels; Increased complement system activation.
Sample genotype: AA (Homozygous)
The A/A genotype is highly protective against the development of age-related macular degeneration [1]. This genetic profile is associated with optimal levels of complement factor H, which efficiently regulates inflammation and protects retinal cells from immune-mediated damage [2]. Individuals with this genotype tend to have thicker retinal pigment epithelium layers, which is a marker of robust eye health [3]. Furthermore, this genotype is linked to lower systemic levels of complement activation fragments like C3d, indicating a well-balanced immune response [4]. These protective genetic factors contribute to a significantly lower likelihood of vision loss from macular diseases as you age.
Lower risk of age-related macular degeneration; Greater retinal layer thickness; Optimal complement system regulation.
Sample genotype: GA (Heterozygous)
The G/A genotype is associated with a moderate increase in the risk of developing age-related macular degeneration compared to those with the protective A/A genotype [1]. This heterozygous state typically results in intermediate levels of complement factor H and moderate complement pathway activation [2]. Studies show that individuals with one G allele have slightly thinner retinal layers than those with two A alleles, but are more protected than G/G homozygotes [3]. The presence of the G allele contributes to a higher likelihood of retinal debris accumulation over time [4]. Managing modifiable risk factors like diet and smoking remains an important strategy for supporting long-term eye health.
Moderately increased risk of macular degeneration; Intermediate complement pathway regulation; Slightly reduced retinal layer thickness.
Variants with shared genetic architecture
rs800292 · CFH Gene · Chr 1 · Macular Degeneration Risk
rs1061170 · CFH Gene · Chr 1 · Macular Degeneration Risk
rs10737680 · CFH Gene · Chr 1 · Macular Degeneration Risk
Content updated August 2026.
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