What you carry at this position in your DNA and what research says about it.
Macular Degeneration Risk: 6/10 evidence, 25 publications.
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Sample genotype (not yours): C/C
Higher Macular Degeneration Risk
Two copies of the C allele are associated with an approximately twofold increase in the risk of developing age-related macular degeneration. Conversely, this genotype offers protection against a less common inflammatory eye condition called central serous retinopathy.
What this genotype means: Approximately twofold higher risk of age-related macular degeneration; Lower risk of central serous retinopathy; Slightly higher LDL and total cholesterol levels.
Sample genotype (not yours): C/T
Typical Eye Disease Risk
One copy of each allele results in a balanced genetic profile with typical baseline risks for both macular degeneration and central serous retinopathy. Ocular inflammation pathways operate at a standard level.
What this genotype means: Typical baseline risk for age-related macular degeneration; Slightly elevated risk of central serous retinopathy compared to CC; Standard cholesterol and lung function measurements.
Sample genotype (not yours): T/T
Lower Macular Degeneration Risk
Two copies of the T allele provide strong protection against age-related macular degeneration. However, this profile is linked to an increased risk of central serous retinopathy.
What this genotype means: Significantly lower risk of age-related macular degeneration; Increased risk of central serous retinopathy; Slightly lower LDL cholesterol and better lung function.
Gene function and biological role
Gene Function: The CFH gene encodes complement factor h, a critical regulatory protein in the body's innate immune system. It acts as a shield to prevent the complement cascade from attacking healthy tissues, particularly in the delicate layers of the eye [1]. Proper regulation of this pathway is essential for maintaining the health of the retina and the choroid, the blood vessel layer beneath it [2]. When complement factor h function is altered, chronic inflammation can damage these ocular structures over time [1]. This makes CFH one of the most heavily studied genes in ophthalmology, with a profound impact on age-related vision loss [2].
Variant Impact: The rs1329428 variant is an intronic change located within the CFH gene that influences how the complement system is regulated in the eye. This genetic variation alters susceptibility to major retinal conditions by shifting the balance of complement activity [2]. While one genetic path increases the likelihood of age-related macular degeneration, it simultaneously lowers the risk of central serous chorioretinopathy [3]. This intriguing genetic trade-off highlights how a single nucleotide change can have opposing effects on different ocular diseases [3].
Key Insight: This variant represents a direct evolutionary trade-off in eye health, where the genetic sequence that protects you from age-related macular degeneration simultaneously increases your risk for central serous retinopathy.
Location: CFH. Chromosome 1 · 1q31.3 · 196.7 Mb
Estimated prevalence by population
Global 31.6%; European 35.0%; African 28.9%; East Asian 28.7%; South Asian 19.3%; Americas 26.2%; Ashkenazi 22.9%; Finnish 36.1%; Middle Eastern 31.1%; Amish 55.1%.
Estimated CC genotype frequency.
Global 48.9%; European 48.3%; African 49.7%; East Asian 49.7%; South Asian 49.3%; Americas 50.0%; Ashkenazi 49.9%; Finnish 48.0%; Middle Eastern 49.3%; Amish 38.3%.
Estimated CT genotype frequency.
Global 19.5%; European 16.7%; African 21.4%; East Asian 21.5%; South Asian 31.4%; Americas 23.9%; Ashkenazi 27.2%; Finnish 15.9%; Middle Eastern 19.6%; Amish 6.6%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 6/10. Source: PMID 15761122. ~2x Increased Risk.
Retinopathy. Evidence: 8/10. Source: PMID 30073298. Lower Risk.
Respiratory Health
Lung Function. Evidence: 4/10. Source: PMID 26634245. Slightly Lower.
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 5/10. Source: PMID 35884923. Slightly Higher.
Showing effects for C/T genotype
Macular Degeneration. Evidence: 6/10. Source: PMID 15761122. Typical Risk.
Retinopathy. Evidence: 8/10. Source: PMID 30073298. Increased Risk.
Lung Function. Evidence: 4/10. Source: PMID 26634245. Typical.
LDL Cholesterol. Evidence: 5/10. Source: PMID 35884923. Typical.
Showing effects for T/T genotype
Macular Degeneration. Evidence: 6/10. Source: PMID 15761122. Lower Risk.
Retinopathy. Evidence: 8/10. Source: PMID 30073298. ~1.5x Increased Risk.
Lung Function. Evidence: 4/10. Source: PMID 26634245. Slightly Higher.
LDL Cholesterol. Evidence: 5/10. Source: PMID 35884923. Slightly Lower.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Ocular health is significantly shaped by how the complement system regulates inflammation in the retina. Carrying two copies of the C allele is a well-established risk factor for age-related macular degeneration, a leading cause of vision loss in older adults [1]. This genetic setup is linked to a roughly twofold increase in the likelihood of developing the condition [2]. Interestingly, the same biological mechanism that raises macular degeneration risk actually lowers the susceptibility to central serous chorioretinopathy, a different fluid-accumulating eye disorder [3]. Beyond eye health, this genotype is associated with slightly higher levels of total and LDL cholesterol [4]. Maintaining regular eye exams and managing cardiovascular health are highly recommended strategies for individuals with this profile [1].
Approximately twofold higher risk of age-related macular degeneration; Lower risk of central serous retinopathy; Slightly higher LDL and total cholesterol levels.
Sample genotype: CT (Heterozygous)
Inheriting one C allele and one T allele generally results in a balanced complement system response. This heterozygous profile does not carry the elevated twofold risk of age-related macular degeneration seen in the CC genotype [1]. However, the presence of a single T allele is associated with a moderate increase in susceptibility to central serous chorioretinopathy compared to the CC baseline [2]. Cardiovascular markers, including total and LDL cholesterol levels, typically remain within the normal baseline range [3]. Lung function measurements, such as the ratio of air exhaled in one second, also show typical average values [4]. Overall, this genetic combination represents the most common global baseline, presenting no extreme risks or protective benefits [1].
Typical baseline risk for age-related macular degeneration; Slightly elevated risk of central serous retinopathy compared to CC; Standard cholesterol and lung function measurements.
Sample genotype: TT (Homozygous)
Ocular tissues benefit from a highly protective effect against age-related macular degeneration under this genetic profile. Having two copies of the T allele is associated with the lowest risk of developing this common cause of late-life blindness [1]. However, this complement system configuration increases susceptibility to central serous chorioretinopathy, an eye condition characterized by fluid buildup under the retina [2]. This trade-off occurs because the genetic pathways that prevent macular degeneration can inadvertently promote fluid leakage in the choroid [3]. On the positive side, this genotype is linked to healthier lipid profiles, including lower total and LDL cholesterol [4]. Lung function measurements also tend to be slightly more favorable with this genetic makeup [5].
Significantly lower risk of age-related macular degeneration; Increased risk of central serous retinopathy; Slightly lower LDL cholesterol and better lung function.
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.
Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration.
Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.
Content updated August 2026.
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