What you carry at this position in your DNA and what research says about it.
Macular Degeneration Risk: 10/10 evidence, 54 publications.
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Sample genotype (not yours): G/G
Higher Risk of Macular Degeneration
Two copies of the G allele are linked to an increased susceptibility to age-related macular degeneration.
What this genotype means: ~1.8x higher risk of wet macular degeneration; Poorer response to bevacizumab therapy; Higher baseline complement system activation.
Sample genotype (not yours): A/A
Lower Risk of Macular Degeneration
Two copies of the protective A allele are associated with a significantly lower risk of developing age-related macular degeneration.
What this genotype means: Significantly lower risk of macular degeneration; More efficient regulation of retinal inflammation; Lower circulating levels of inflammatory markers.
Sample genotype (not yours): G/A
Typical Risk of Macular Degeneration
One copy of each allele provides a balanced genetic profile with typical susceptibility to macular degeneration.
What this genotype means: Typical risk of age-related macular degeneration; Balanced complement system regulation; Standard response to common eye therapies.
Gene function and biological role
Gene Function: The CFH gene encodes complement factor H, a crucial regulatory protein in the immune system's alternative complement pathway [1]. It acts as a shield to protect healthy host cells and tissues from accidental immune-mediated damage [1]. By binding to specific cell surfaces, complement factor H prevents the overactivation of inflammatory cascades [1]. When this gene carries certain variations, the regulation of inflammation can become compromised, particularly in the delicate tissues of the eye [2]. Over time, this chronic low-grade inflammation can lead to the accumulation of cellular waste and damage to the retina [2].
Variant Impact: The rs800292 variant is a missense mutation in the CFH gene that changes the amino acid at position 62 from valine to isoleucine [1]. This specific change alters the structure of the N-terminal region of the complement factor H protein, which is critical for its regulatory activity [1]. The reference G allele (encoding valine) is associated with higher complement activation and an increased risk of inflammatory eye diseases [3]. Conversely, the variant A allele (encoding isoleucine) leads to more controlled complement pathway activity and lower circulating levels of inflammatory markers [4].
Key Insight: This variant is part of a genetic complotype that can significantly influence how your body's immune system regulates inflammation in the retina.
Location: CFH. Chromosome 1 · 1q31.3 · 196.7 Mb
Estimated prevalence by population
Global 40.5%; European 58.7%; African 8.1%; East Asian 33.3%; South Asian 45.4%; Americas 37.3%; Ashkenazi 53.3%; Finnish 49.5%; Middle Eastern 71.1%; Amish 49.9%.
Estimated GG genotype frequency.
Global 39.5%; European 35.8%; African 40.7%; East Asian 48.8%; South Asian 44.0%; Americas 47.5%; Ashkenazi 39.4%; Finnish 41.7%; Middle Eastern 26.4%; Amish 41.5%.
Estimated GA genotype frequency.
Global 19.9%; European 5.5%; African 51.3%; East Asian 17.9%; South Asian 10.6%; Americas 15.1%; Ashkenazi 7.3%; Finnish 8.8%; Middle Eastern 2.4%; Amish 8.6%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 10/10. Source: PMID 21909106. ~1.8x Higher Risk.
Chorioretinopathy. Evidence: 6/10. Source: PMID 30480742. Increased Risk.
Choroidal Thickness. Evidence: 5/10. Source: PMID 29844195. Typical.
Pharmacogenomics
Chemotherapy Response
Bevacizumab Response. Evidence: 5/10. Source: PMID 22594510. Poorer Response.
Showing effects for A/A genotype
Macular Degeneration. Evidence: 10/10. Source: PMID 21909106. Lower Risk.
Chorioretinopathy. Evidence: 6/10. Source: PMID 30480742. Lower Risk.
Choroidal Thickness. Evidence: 5/10. Source: PMID 29844195. Increased.
Bevacizumab Response. Evidence: 5/10. Source: PMID 22594510. Typical Response.
Showing effects for G/A genotype
Macular Degeneration. Evidence: 10/10. Source: PMID 21909106. Typical Risk.
Chorioretinopathy. Evidence: 6/10. Source: PMID 30480742. Typical Risk.
Choroidal Thickness. Evidence: 5/10. Source: PMID 29844195. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Valine at position 62 of the complement factor H protein is associated with higher complement system activation [1]. This elevated immune activity can drive chronic inflammation in the retina, contributing to the development of age-related macular degeneration (AMD) [2]. Studies indicate that individuals with this genotype have an estimated 1.8-fold higher risk of developing the wet form of AMD compared to those with the protective A allele [3]. Additionally, some research suggests that G/G carriers may show a poorer response to bevacizumab, a common therapy used to treat wet AMD [4]. Regular eye examinations and a healthy lifestyle are particularly beneficial for individuals with this genetic profile.
~1.8x higher risk of wet macular degeneration; Poorer response to bevacizumab therapy; Higher baseline complement system activation.
Sample genotype: AA (Homozygous)
Isoleucine at position 62 of the complement factor H protein is highly efficient at regulating the complement system [1]. This optimal regulation helps prevent excessive inflammation and protects the delicate tissues of the retina from damage [2]. Consequently, individuals with the A/A genotype enjoy a significantly reduced risk of developing age-related macular degeneration compared to G/G carriers [3]. Research also associates this genotype with lower circulating levels of inflammatory markers like myeloperoxidase [4]. While genetics are highly favorable here, maintaining a healthy lifestyle still supports overall long-term vision.
Significantly lower risk of macular degeneration; More efficient regulation of retinal inflammation; Lower circulating levels of inflammatory markers.
Sample genotype: GA (Heterozygous)
A combination of both valine and isoleucine at position 62 results in a balanced complement factor H profile. This heterozygous state generally confers a typical or near-baseline risk for age-related macular degeneration [1]. While the G allele slightly increases susceptibility, the presence of the protective A allele helps mitigate this effect, resulting in a balanced inflammatory response [2]. Studies show that individuals with this genotype do not experience the significantly elevated risks associated with the G/G genotype [3]. Maintaining standard eye health practices, such as protecting eyes from UV light and eating antioxidant-rich foods, remains highly effective.
Typical risk of age-related macular degeneration; Balanced complement system regulation; Standard response to common eye therapies.
Variants with shared genetic architecture
rs1061170 · CFH Gene · Chr 1 · Macular Degeneration Risk
rs10737680 · CFH Gene · Chr 1 · Macular Degeneration Risk
rs6695321 · CFH Gene · Chr 1 · Macular Degeneration Risk
Content updated August 2026.
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