CFH rs1061147: What Your Genotype Means for AMD Risk
The rs1061147 variant is a single nucleotide polymorphism located within the CFH gene. It is statistically associated with the risk of developing age-related macular degeneration (AMD), a condition affecting the central part of the retina.
What each genotype means
Increased macular degeneration risk
This genotype is associated with a higher statistical risk of developing age-related macular degeneration compared to other genotypes. While this variant is a known factor in eye health, it is only one of many genetic and environmental influences on macular health. You should consult with an eye care professional for routine screenings and to discuss personalized preventative strategies.
This genotype is common in many populations, particularly those of European ancestry.
Average risk profile
This genotype is associated with an average or baseline risk for age-related macular degeneration. It does not confer the increased risk associated with the AA genotype nor the reduced risk associated with the CC genotype. Maintaining regular eye examinations is recommended as part of standard health maintenance.
This is a common heterozygous genotype found frequently across diverse populations.
Reduced macular degeneration risk
This genotype is associated with a statistically reduced risk of developing age-related macular degeneration. While this genetic profile is linked to a lower risk, it does not eliminate the possibility of developing eye conditions. It is still important to maintain regular eye health check-ups with your clinician.
This genotype is observed in a significant portion of the population, though its frequency varies by ancestry.
Understanding the rs1061147 Variant
The rs1061147 variant is a specific genetic change located on chromosome 1 at position 196,685,194. In the context of human genetics, a single nucleotide polymorphism (SNP) like rs1061147 represents a variation at a single position in the DNA sequence. This particular variant is found within the CFH gene, which provides instructions for making a protein called complement factor H. Because this variant is located in a region of the genome that is highly involved in immune regulation, researchers have studied it extensively to understand how it might influence the body's inflammatory response. It is important to note that rs1061147 is often studied alongside other variants in the same gene, as these markers frequently exist together as part of a haplotype—a group of genetic variations that are inherited together from a single parent.
The Role of the CFH Gene
The CFH gene encodes complement factor H, a critical protein in the complement system. The complement system is a part of the innate immune system that helps clear pathogens and damaged cells from the body. Complement factor H acts as a regulator, preventing the complement system from becoming overactive and damaging healthy tissues. When the CFH gene functions optimally, it helps maintain the balance of the immune response in the eye. Research suggests that variations in this gene may alter the protein's ability to bind to specific surfaces or regulate the complement cascade effectively. In the context of the eye, this regulation is vital for preventing the accumulation of deposits known as drusen, which are a hallmark of age-related macular degeneration. Disruptions in this regulatory process are thought to contribute to the chronic inflammation associated with retinal health.
Research and Statistical Associations
The association between rs1061147 and age-related macular degeneration (AMD) is supported by moderate evidence from genome-wide association studies (GWAS). Statistical analysis has shown that individuals carrying certain alleles at this position exhibit a higher likelihood of developing AMD compared to those who do not. For example, the 'A' allele has been identified in various studies as a risk-associated marker, with odds ratios indicating a significant increase in susceptibility. However, it is crucial to understand that these findings are based on population-level statistics rather than individual predictions. The presence of this variant does not guarantee that an individual will develop the condition, nor does its absence guarantee protection. AMD is a complex, multifactorial disease influenced by a combination of genetic factors, environmental exposures, and lifestyle choices, such as smoking and diet.
Interpreting Your Genetic Information
If you have received information about your rs1061147 genotype, it is important to view it as one piece of a much larger puzzle. Genetic testing for this variant is not a diagnostic tool for AMD. Because the condition is influenced by many genes and external factors, knowing your genotype for a single SNP provides limited insight into your personal health trajectory. You cannot use this information to predict a medical outcome or to make decisions about medical treatments. If you are concerned about your eye health or have a family history of macular degeneration, the most effective step is to consult with an eye care professional, such as an ophthalmologist or optometrist. They can perform clinical examinations to assess your actual retinal health and provide guidance based on your specific medical history and current symptoms.
How common is this variant?
The rs1061147 variant is common in European populations. Allele frequencies can vary significantly across different global ancestries, with some populations showing higher prevalence of specific alleles than others.
Frequently asked questions
Does having the rs1061147 risk allele mean I will get AMD?
No. Genetic associations are based on statistical trends across large groups of people. Many individuals with the risk allele never develop AMD, and many without it do.
Should I get tested for the CFH rs1061147 variant?
Genetic testing for this variant is generally not recommended for routine clinical care. Because the results do not change the standard of care or provide a definitive diagnosis, they are often not useful for individual health management.
What can I do to lower my risk of AMD?
The most effective ways to support eye health include regular comprehensive eye exams, maintaining a healthy diet, avoiding smoking, and protecting your eyes from excessive UV exposure. Discuss any specific concerns with your eye doctor.
Is rs1061147 the only gene linked to AMD?
No. AMD is a complex disease associated with many different genetic variants across several genes, including those involved in the complement system and lipid metabolism. Research is ongoing to identify all contributing factors.
Sources & further reading
Educational information only, last refreshed 10/6/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This regulatory variant in the CFH locus is linked to complement system dysregulation and is a recognized genetic risk factor for age-related macular degeneration.
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.
Intronic single nucleotide variant in the CFH region associated with susceptibility to age-related macular degeneration (AMD).
Common variant in the CFH locus strongly associated with risk of age-related macular degeneration (AMD).
Intronic marker in CFH forming critical susceptibility haplotypes for choroidal neovascularization and macular atrophy.
Intergenic/intronic variant within the CFH cluster contributing to phenotypic variation in retinal complement activation.