APOE/TOMM40 rs62047225: Understanding Genetic Risk Associations
The rs62047225 variant is a single nucleotide polymorphism located within the APOE/TOMM40 gene cluster. It is primarily studied for its statistical association with the risk of late-onset Alzheimer's disease, though its independent effect is often difficult to distinguish from nearby genetic markers.
What each genotype means
Typical lipid and cognitive risk
You carry two copies of the common C allele at rs62047225 in the APOE region. Research suggests this baseline genotype is not associated with elevated lipid levels or increased late-onset Alzheimer's risk relative to carriers of the minor allele. Overall risk for cardiovascular and neurodegenerative traits is predominantly determined by classic APOE epsilon isoforms (such as APOE-e4) along with lifestyle factors.
Carried by approximately 80% to 90% of individuals of European ancestry and is the predominant genotype across global populations.
Modestly altered lipid marker
You carry one copy of the minor T allele at rs62047225 near APOE and TOMM40. Genome-wide association studies show modest statistical correlations between this variant and altered circulating lipid fractions as well as cognitive health markers, though evidence for an independent causal effect remains limited due to strong linkage with neighboring APOE variations. These statistical findings do not constitute a clinical diagnosis or guarantee any health outcome.
Carried by roughly 10% to 18% of individuals of European ancestry; frequencies vary across other global ancestral groups.
Atypical 19q13 regional genotype
You carry two copies of the less common T allele at rs62047225. While literature notes this locus within the APOE cluster as having potential associations with altered plasma lipid levels and neurodegenerative susceptibility, published evidence establishing a definitive independent clinical effect remains limited. Routine cardiovascular health monitoring and lipid panels remain standard practice regardless of this single marker.
Carried by less than 1% to 2% of most worldwide populations, including European ancestries.
What is rs62047225?
The rs62047225 variant is a specific genetic marker, or single nucleotide polymorphism (SNP), situated in the genomic region containing the APOE and TOMM40 genes. This area of chromosome 19 is highly complex and well-known in human genetics for its role in lipid metabolism and neurobiology. Because genes in this region are physically close to one another, they are often inherited together in blocks, a phenomenon known as linkage disequilibrium. When researchers identify a statistical association between a variant like rs62047225 and a health trait, it is essential to determine whether the variant itself is causing the effect or if it is simply acting as a 'tag' for a nearby, more influential genetic change. In the case of the APOE/TOMM40 locus, many variants are in such tight linkage that isolating the functional impact of any single SNP remains a significant challenge for genomic researchers.
The APOE and TOMM40 Context
The APOE gene is widely recognized for its role in transporting cholesterol and other lipids in the brain. Its variants, particularly the ε4 allele, are established as significant genetic risk factors for late-onset Alzheimer's disease. Adjacent to APOE lies the TOMM40 gene, which encodes a protein essential for importing molecules into mitochondria, the energy-producing centers of cells. Research suggests that TOMM40 may influence neuronal health and cholesterol balance, potentially contributing to Alzheimer's disease pathology. Because APOE and TOMM40 are neighbors, they are frequently studied as a functional unit. Some studies have investigated whether TOMM40 variants contribute to disease risk independently of APOE, but the strong linkage between these genes often complicates these findings. Understanding how these genes interact is a major focus of ongoing research into the molecular mechanisms of neurodegeneration.
Evidence and Associations
The evidence linking rs62047225 to Alzheimer's disease is considered limited and primarily observational. Most associations reported in the literature are derived from genome-wide association studies (GWAS) that identify signals in the APOE/TOMM40 region. However, because of the high degree of linkage disequilibrium in this area, many researchers caution that these signals may be driven by the well-known APOE ε2, ε3, and ε4 alleles rather than the rs62047225 variant itself. While some studies have attempted to map the specific contributions of individual SNPs in this region, results have been mixed, and it remains unclear if rs62047225 has a direct, independent biological effect. Consequently, this variant is generally viewed as part of a broader genetic landscape rather than a standalone diagnostic marker. Further large-scale, multi-ancestry studies are required to clarify the specific role, if any, that this variant plays in disease susceptibility.
Population Frequency
The rs62047225 variant is observed with a minor allele frequency of approximately 0.05 to 0.10 in populations of European ancestry. Frequency data can vary significantly across different global populations, and genetic studies often highlight that the impact of variants in the APOE region can differ between ethnic groups. It is important to note that allele frequencies are statistical averages and do not predict individual health outcomes. Because this variant is relatively common, its presence in an individual's genome is not inherently indicative of disease risk. Researchers continue to collect data across diverse ancestries to better understand how the distribution of this variant correlates with health traits globally.
Interpreting Genetic Information
Genetic information regarding variants like rs62047225 should be interpreted with caution. It is important to understand that a statistical association found in a research study does not constitute a medical diagnosis. Many factors, including environment, lifestyle, and the complex interplay of thousands of other genetic variants, contribute to the development of complex conditions like Alzheimer's disease. Consumers should avoid using single-SNP data to make health decisions or predictions. If you have concerns about your cognitive health or family history, the most appropriate step is to consult with a qualified healthcare professional or a genetic counselor. They can provide context based on your personal medical history and help you understand the limitations of current genetic testing. Never use genetic data to self-diagnose or alter medical treatments without professional guidance.
How common is this variant?
The minor allele frequency for rs62047225 is approximately 0.05 to 0.10 in European ancestries, though frequencies vary across global populations.
Frequently asked questions
Is rs62047225 a diagnostic test for Alzheimer's disease?
No, rs62047225 is not a diagnostic test. It is a genetic variant associated with risk in population-level studies, but it cannot predict whether an individual will develop Alzheimer's disease.
Does having the minor allele mean I will get Alzheimer's?
No. Genetic associations are statistical, not deterministic. Many people with the minor allele never develop the disease, and many without it do.
How does this variant relate to the APOE ε4 allele?
The rs62047225 variant is located in the same genomic region as APOE. Because these genes are physically close, they are often inherited together, making it difficult to separate the effects of this variant from the well-known APOE ε4 risk factor.
Should I get tested for this variant?
There is no clinical recommendation to test for this specific variant. Genetic testing for complex diseases should only be done under the guidance of a healthcare provider or genetic counselor.
Sources & further reading
Educational information only, last refreshed 10/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Downstream variant in the APOE region associated with lipid metabolism profiles and healthspan indicators.
Variant (c.497G>A, p.Arg166Gln) in the APOE gene known as Apolipoprotein E4 Christchurch, which has been shown in clinical case studies to confer resistance to familial Alzheimer's disease pathology.
Upstream regulatory variant influencing APOE transcription and plasma lipid modulation.
Defines the APOE ε2 allele, associated with lower LDL cholesterol and reduced risk of Alzheimer's disease.
Regulatory variant in the APOE promoter region modulating transcriptional activity and risk for late-onset neurodegeneration.
Variant in the APOE gene cluster strongly associated with low-density lipoprotein cholesterol levels and altered susceptibility to cardiovascular disease.