What you carry at this position in your DNA and what research says about it.
Macular Degeneration Risk: 5/10 evidence, 18 publications.
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Sample genotype (not yours): G/G
Higher Risk of Macular Degeneration
Carrying two copies of the G allele is associated with an increased risk of developing age-related macular degeneration. This can lead to progressive vision loss in the central field of view during older age.
What this genotype means: Increased risk of age-related macular degeneration; Potential for progressive central vision loss.
Sample genotype (not yours): C/C
Typical Risk of Macular Degeneration
Carrying two copies of the C allele is associated with a typical or lower risk of developing age-related macular degeneration. This genotype avoids the genetic risk associated with the G allele.
What this genotype means: Typical baseline risk of macular degeneration; Lacks the genetic risk associated with the G allele.
Sample genotype (not yours): G/C
Carrying one copy of the G allele is associated with a typical risk of developing age-related macular degeneration. Vision health is likely to follow average population trends.
What this genotype means: Typical baseline risk of macular degeneration.
Gene function and biological role
Gene Function: Complement factor H is a crucial regulatory protein in the immune system's complement cascade. It acts as a shield to protect healthy host tissues from accidental damage caused by overactive immune responses. Specifically, this protein regulates the alternative complement pathway, preventing it from attacking cells in the retina and kidneys. When its function is compromised, chronic inflammation can lead to tissue damage, particularly in the macula of the eye [1]. This localized inflammation is a primary driver of age-related macular degeneration, a leading cause of blindness in older adults [2].
Variant Impact: The rs380390 variant is an intronic change located within the CFH gene on chromosome 1 [2]. Although it does not alter the amino acid sequence of the complement factor H protein directly, it is in strong linkage disequilibrium with functional variants like Tyr402His [2]. This means rs380390 serves as an excellent genetic marker for complement system activity and macular health [2]. Studies show that variations at this locus significantly influence susceptibility to age-related macular degeneration [2] [3]. The impact of this variant is highly pronounced in Caucasian populations, whereas its association is less clear in other ancestries [3].
Key Insight: This variant was part of the landmark 2005 genome-wide association study that first identified the complement system's critical role in macular degeneration.
Location: CFH. Chromosome 1 · 1q31.3 · 196.7 Mb
Estimated prevalence by population
Global 12.8%; European 17.7%; African 6.9%; East Asian 0.3%; South Asian 8.3%; Americas 6.7%; Ashkenazi 10.9%; Finnish 20.6%; Middle Eastern 11.8%; Amish 23.6%.
Estimated GG genotype frequency.
Global 43.3%; European 48.7%; African 38.8%; East Asian 9.9%; South Asian 41.0%; Americas 38.3%; Ashkenazi 44.3%; Finnish 49.6%; Middle Eastern 45.1%; Amish 50.0%.
Estimated GC genotype frequency.
Global 43.9%; European 33.5%; African 54.2%; East Asian 89.8%; South Asian 50.8%; Americas 55.0%; Ashkenazi 44.8%; Finnish 29.8%; Middle Eastern 43.1%; Amish 26.5%.
Estimated CC genotype frequency.
Showing effects for G/G genotype
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 5/10. Source: PMID 15761122. Increased Risk.
Showing effects for C/C genotype
Macular Degeneration. Evidence: 5/10. Source: PMID 15761122. Typical Risk.
Showing effects for G/C genotype
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
This genotype is linked to a higher susceptibility to age-related macular degeneration, a leading cause of blindness in older adults [1]. The genetic variation in the CFH gene affects how the body regulates inflammation in the retina [2]. Over time, uncontrolled complement system activation can lead to the formation of cellular debris called drusen behind the retina [2]. This chronic inflammatory state damages the macula, which is responsible for sharp, central vision [2]. While this genetic marker indicates a higher risk, lifestyle factors such as smoking and diet also play a significant role in disease progression [3]. Regular eye exams and protective measures are highly recommended for individuals with this genetic profile [1].
Increased risk of age-related macular degeneration; Potential for progressive central vision loss.
Sample genotype: CC (Homozygous)
This genotype is associated with a typical or lower risk of developing age-related macular degeneration, as it lacks the risk-associated G allele [1]. The complement system is able to regulate inflammation in the retina effectively, protecting the delicate macular tissues from chronic inflammatory damage [2]. While this genetic profile is protective against this specific risk factor, overall eye health is still influenced by aging and lifestyle choices [3]. Avoiding smoking, wearing UV-protective sunglasses, and eating a diet rich in antioxidants are excellent ways to maintain vision health [3]. Regular eye examinations are still recommended as part of routine healthcare [1].
Typical baseline risk of macular degeneration; Lacks the genetic risk associated with the G allele.
Sample genotype: GC (Heterozygous)
This genotype represents a heterozygous state that is generally associated with a typical or baseline risk of age-related macular degeneration [1]. Having one copy of the risk-associated allele does not significantly elevate the likelihood of developing severe vision loss compared to the general population [1]. The complement factor H protein continues to perform its regulatory functions, helping to protect the retina from excessive inflammatory damage [2]. However, maintaining overall eye health remains important, as environmental factors like smoking and UV exposure can still influence macular health over time [3].
Typical baseline risk of macular degeneration.
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
Molecular pathology of age-related macular degeneration.
Complement factor H polymorphism in age-related macular degeneration.
Content updated August 2026.
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