CFH rs380390: What Your Genotype Means
The rs380390 variant is a single nucleotide polymorphism located within the CFH gene. It has been studied for its statistical association with an increased risk of developing age-related macular degeneration (AMD).
What each genotype means
Increased macular degeneration risk
This genotype is associated with an increased statistical risk of developing age-related macular degeneration (AMD). Research indicates that this variant in the CFH gene may influence the complement system, though the clinical impact can vary significantly based on individual ancestry and other genetic or environmental factors.
This genotype is common in many populations, though its frequency and association with disease risk vary significantly across different ethnic groups.
Average risk profile
Individuals with this heterozygous genotype do not show the same increased risk profile for age-related macular degeneration as those with the homozygous risk genotype. This result is generally considered to have no significant impact on your predisposition to this condition based on current research.
This genotype is frequently observed in the general population across diverse ancestries.
Average risk profile
This genotype is not associated with an increased risk of age-related macular degeneration in the context of this specific variant. It is considered the baseline or common state for this position in the CFH gene in many studies.
This genotype is common and found in a significant portion of the population globally.
Understanding the rs380390 Variant
The rs380390 variant is a specific change in the DNA sequence of the CFH gene, which is located on chromosome 1. In genetics, a single nucleotide polymorphism (SNP) like rs380390 represents a variation at a single position in the genome. This particular variant is one of several markers within the CFH region that researchers have investigated to understand the genetic architecture of eye health. Because the human genome is vast, scientists use these specific markers to track how certain segments of DNA are inherited and whether they correlate with specific health outcomes. It is important to note that rs380390 is just one piece of a much larger puzzle; the CFH gene is part of a complex regulatory system, and variations here are studied alongside many other genetic and environmental factors that contribute to the development of complex conditions like age-related macular degeneration.
The Role of the CFH Gene
The CFH gene provides instructions for making a protein called complement factor H. This protein is a critical component of the complement system, which is part of the body's innate immune response. The complement system helps identify and eliminate pathogens, but it must be tightly regulated to prevent it from damaging the body's own healthy tissues. Complement factor H acts as a 'brake' on this system, preventing excessive inflammation. When the CFH gene contains certain variants, it may alter the production or function of this protein. In the context of the eye, researchers hypothesize that an imbalance in this regulatory process may contribute to the buildup of deposits known as drusen, which are a hallmark of age-related macular degeneration. By studying these genetic variations, scientists aim to better understand how the immune system interacts with the delicate structures of the retina over a person's lifetime.
Research and Evidence Strength
Research into rs380390 and other variants in the CFH gene has primarily focused on their statistical association with age-related macular degeneration (AMD). Numerous studies, including genome-wide association studies (GWAS), have identified the CFH locus as a major susceptibility region for AMD. While the evidence linking the CFH gene to AMD is robust, the specific contribution of individual SNPs like rs380390 can vary. It is essential to recognize that these associations are statistical in nature, meaning they describe patterns observed in large groups of people rather than predicting an individual's health outcome. Furthermore, the strength of these associations can differ significantly between populations; for example, some CFH variants that are highly relevant in European populations show different or negligible associations in other ancestral groups. Because AMD is a multifactorial condition influenced by age, smoking, diet, and other genetic markers, the presence of a specific genotype does not guarantee the development of the disease.
Population Frequency
The rs380390 variant is relatively common in the general population, with a Global Minor Allele Frequency (GMAF) reported at approximately 0.2576. This means that a significant portion of the population carries the minor allele. Because the frequency of this variant varies across different ancestral backgrounds, it is important to interpret these statistics within the context of diverse genetic studies. The prevalence of specific genotypes, such as the homozygous or heterozygous states, follows standard inheritance patterns, but the clinical relevance of these frequencies remains a subject of ongoing research. Genetic databases like gnomAD provide detailed breakdowns of these frequencies across various global populations, which helps researchers understand the distribution of the variant and its potential impact on health outcomes in different communities.
What This Information Means for You
Learning about your genotype for rs380390 can be an educational experience, but it is not a medical diagnosis. Because age-related macular degeneration is a complex condition, having a specific genotype does not mean you will develop the disease, nor does the absence of a risk allele guarantee protection. Many people with 'risk' genotypes never develop AMD, and many without them do. If you are concerned about your eye health, the most effective step is to schedule regular comprehensive eye exams with an optometrist or ophthalmologist. These professionals can monitor your retinal health and provide personalized advice based on your clinical history, lifestyle, and family history. Avoid making health decisions based solely on genetic reports. Always discuss any concerns about your genetic results with a qualified healthcare provider or a genetic counselor who can help you interpret the information in the context of your overall health.
How common is this variant?
The rs380390 variant is common, with a Global Minor Allele Frequency (GMAF) of approximately 0.2576 across diverse populations.
Frequently asked questions
Does having the rs380390 risk allele mean I will get macular degeneration?
No. Genetic associations are statistical, not deterministic. Many factors, including age, smoking, and other genetic variants, influence the risk of developing age-related macular degeneration.
Can I change my risk based on my genotype?
You cannot change your DNA, but you can manage modifiable risk factors. Maintaining a healthy diet, avoiding smoking, and getting regular eye exams are recommended for overall eye health.
Is this the only gene associated with AMD?
No. Age-related macular degeneration is a complex condition associated with many different genes, including other variants within the CFH gene and the ARMS2 gene.
Should I take supplements if I have this variant?
You should never start supplements based on a genetic report alone. Always consult with your eye doctor or primary care physician to determine if specific supplements are appropriate for your health needs.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Complement factor H variant (Ala473Ala / coding synonymous) in linkage disequilibrium conferring significant risk for age-related macular degeneration and polypoidal choroidal vasculopathy.
This variant in the Complement Factor H gene is associated with neovascular age-related macular degeneration (AMD) risk and influences patient response to anti-VEGF therapy.
This variant is associated with systemic complement activation levels and poor response to anti-VEGF treatment in neovascular age-related macular degeneration.
This variant is associated with reduced risk of neovascular age-related macular degeneration and improved response to anti-VEGF therapy.
This variant is associated with AMD and has been successfully targeted for allele-specific manipulation in retinal pigment epithelium cells.
This variant in the complement factor H gene is associated with altered regulation of the alternative complement pathway and increased susceptibility to age-related macular degeneration.