What you carry at this position in your DNA and what research says about it.
Macular Degeneration Risk: 6/10 evidence, 5 publications.
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Sample genotype (not yours): A/A
Significantly Higher Macular Degeneration Risk
An increased susceptibility to age-related macular degeneration is linked to this genetic profile.
What this genotype means: Significantly increased risk of age-related macular degeneration; Altered systemic levels of complement and lipid-related proteins.
Sample genotype (not yours): A/G
Moderately Higher Macular Degeneration Risk
A moderate increase in the risk of age-related macular degeneration is associated with carrying one copy of the risk allele.
What this genotype means: Moderately increased risk of age-related macular degeneration; Slightly altered systemic protein levels.
Sample genotype (not yours): G/G
Typical Macular Degeneration Risk
A typical, baseline risk of age-related macular degeneration is associated with this genotype.
What this genotype means: Typical baseline risk of age-related macular degeneration; Standard levels of complement and lipid-related proteins.
Gene function and biological role
Gene Function: The complement factor H gene encodes a vital regulatory protein that controls the alternative complement pathway of the innate immune system. This protein protects host cells and tissues from accidental damage by preventing runaway complement activation. It acts by binding to C3b, accelerating the decay of C3 convertase, and serving as a cofactor for factor I. Proper functioning of this gene is especially critical in the kidneys and the retina, where complement dysregulation can lead to severe tissue damage.
Variant Impact: The rs10801555 variant is an intronic single nucleotide polymorphism located within the complement factor H gene. It serves as an extremely strong genetic proxy for the well-known Y402H missense mutation, which directly alters the protein structure [1]. This structural change reduces the protein's ability to bind to cell surfaces and regulatory molecules like C-reactive protein [2]. Consequently, the variant leads to impaired local complement regulation and chronic low-grade inflammation in ocular tissues [2].
Key Insight: This variant is in near-perfect linkage disequilibrium with the famous Y402H mutation, which is one of the strongest known genetic risk factors for age-related macular degeneration.
Location: CFH. Chromosome 1 · 1q31.3 · 196.7 Mb
Estimated prevalence by population
Global 13.2%; European 14.6%; African 13.8%; East Asian 0.3%; South Asian 7.8%; Americas 6.9%; Ashkenazi 11.5%; Finnish 19.2%; Middle Eastern 11.5%; Amish 23.2%.
Estimated AA genotype frequency.
Global 44.8%; European 47.2%; African 46.7%; East Asian 9.8%; South Asian 40.3%; Americas 38.7%; Ashkenazi 44.8%; Finnish 49.2%; Middle Eastern 44.8%; Amish 49.9%.
Estimated AG genotype frequency.
Global 42.0%; European 38.1%; African 39.5%; East Asian 89.9%; South Asian 51.9%; Americas 54.3%; Ashkenazi 43.7%; Finnish 31.6%; Middle Eastern 43.7%; Amish 26.9%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 6/10. Source: PMID 22694956. ~2.3x Higher Risk.
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Receptor Levels. Evidence: 6/10. Source: PMID 34648354. Lower Levels.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
FGF10 Levels. Evidence: 6/10. Source: PMID 34648354. Lower Levels.
Clusterin Levels. Evidence: 6/10. Source: PMID 34648354. Higher Levels.
Showing effects for A/G genotype
Macular Degeneration. Evidence: 6/10. Source: PMID 22694956. Moderately Higher Risk.
LDL Receptor Levels. Evidence: 6/10. Source: PMID 34648354. Intermediate Levels.
FGF10 Levels. Evidence: 6/10. Source: PMID 34648354. Intermediate Levels.
Clusterin Levels. Evidence: 6/10. Source: PMID 34648354. Intermediate Levels.
Showing effects for G/G genotype
Macular Degeneration. Evidence: 6/10. Source: PMID 22694956. Typical Risk.
LDL Receptor Levels. Evidence: 6/10. Source: PMID 34648354. Higher Levels.
FGF10 Levels. Evidence: 6/10. Source: PMID 34648354. Higher Levels.
Clusterin Levels. Evidence: 6/10. Source: PMID 34648354. Lower Levels.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
A significantly elevated risk of developing age-related macular degeneration is associated with this genetic profile [1] [2]. Research indicates that the A allele is in strong linkage disequilibrium with the Y402H variant, which impairs complement factor H function [3]. This impairment leads to reduced binding to cell surfaces and regulatory molecules, promoting chronic inflammation in the retina [4]. Studies in diverse populations have consistently replicated this strong association with vision loss [1] [3]. Additionally, this genotype is linked to altered levels of several circulating proteins, including lower levels of the LDL receptor and fibroblast growth factor 10 [5]. These proteomic changes may reflect broader systemic alterations in lipid regulation and tissue repair pathways [5].
Significantly increased risk of age-related macular degeneration; Altered systemic levels of complement and lipid-related proteins.
Sample genotype: AG (Heterozygous)
A moderately increased risk of age-related macular degeneration is observed in those with one copy of the A allele [1] [2]. The presence of a single risk allele partially reduces the efficiency of complement factor H in regulating inflammation [3]. This partial impairment can lead to intermediate levels of complement activation on retinal cell surfaces [4]. Population studies show a clear, intermediate risk profile for heterozygous individuals compared to non-carriers [1] [3]. Systemic protein levels, such as the LDL receptor and fibroblast growth factor 10, are also moderately altered in this group [5]. These findings suggest a mild shift in both ocular inflammatory control and systemic proteomic markers [5].
Moderately increased risk of age-related macular degeneration; Slightly altered systemic protein levels.
Sample genotype: GG (Homozygous)
A typical baseline risk of age-related macular degeneration is maintained with this genetic profile [1] [2]. The G/G genotype represents the typical, fully functional complement factor H protein that efficiently regulates the alternative complement pathway [3]. Normal binding to cell surfaces prevents the chronic, low-grade inflammation that drives retinal damage [4]. Large-scale genomic studies confirm that individuals with this genotype do not carry the elevated risk associated with the A allele [1] [3]. Furthermore, typical levels of key systemic proteins, including the LDL receptor and fibroblast growth factor 10, are preserved [5]. This balance supports normal lipid regulation and tissue maintenance pathways throughout the body [5].
Typical baseline risk of age-related macular degeneration; Standard levels of complement and lipid-related proteins.
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
Association of genetic polymorphisms and age-related macular degeneration in Chinese population.
Mapping the proteo-genomic convergence of human diseases.
Content updated September 2026.
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