APOE rs527236160: Understanding This Rare Genetic Variant
The rs527236160 variant is a rare genetic deletion located within the APOE gene. It has been identified in clinical research in association with severe dysbetalipoproteinemia, a condition characterized by the impaired clearance of cholesterol and triglycerides from the blood.
What each genotype means
Typical APOE profile
This genotype represents the standard, functional sequence for this specific location in the APOE gene. It is the most common configuration found in the general population and is not associated with the rare deletion variant linked to dysbetalipoproteinemia.
This is the most common genotype observed across all global populations.
Carrier of rare variant
This genotype indicates you carry one copy of the c.291del variant, also known as p.E97fs. Research on this specific rare variant is limited, but it has been identified in individuals with severe dysbetalipoproteinemia; please discuss any concerns regarding lipid metabolism or cardiovascular health with your clinician.
This is a very rare genotype, occurring at an extremely low frequency in the general population.
What is rs527236160?
The variant rs527236160 is a specific genetic alteration located on chromosome 19 within the APOE gene. In scientific literature, this variant is often referred to as c.291del or p.E97fs. It represents a deletion, meaning a small segment of the DNA sequence is missing compared to the reference genome. Because this variant is rare, it is not typically included in standard commercial ancestry or health-related genetic screening panels. It was first highlighted in research involving whole-exome sequencing of individuals presenting with significant lipid metabolism disorders. Understanding such variants requires looking at the specific genomic context of the APOE gene, which plays a critical role in how the body processes fats and cholesterol. As a deletion, it can potentially disrupt the production of the functional apolipoprotein E protein, which is essential for maintaining healthy lipid levels in the bloodstream.
The Role of the APOE Gene
The APOE gene provides instructions for making a protein called apolipoprotein E. This protein is a major component of chylomicrons and very-low-density lipoproteins (VLDL), which are particles that transport fats and cholesterol through the bloodstream. By binding to specific receptors on the surface of liver cells, apolipoprotein E helps the body clear these triglyceride-rich particles from circulation. When the APOE gene is functioning normally, it ensures that lipid levels remain within a healthy range. However, certain mutations or variants in this gene can impair this clearance process. This impairment can lead to the accumulation of cholesterol and triglyceride remnants in the blood, a condition known as dysbetalipoproteinemia or type III hyperlipoproteinemia. Because the APOE protein is also involved in various other biological processes, researchers continue to study how different variants influence health outcomes beyond lipid metabolism.
Research and Clinical Associations
Research into rs527236160 is limited, as it is a rare variant. The primary association documented in scientific literature involves a patient who was homozygous for this deletion. Despite the apparent absence of functional apoE protein in this individual, clinical observations were notable for what was not present: the patient exhibited normal cognitive, neurological, and retinal function, and had normal levels of specific proteins in their cerebrospinal fluid. However, the patient did present with extremely high cholesterol levels and mild atherosclerosis. This case study highlights that while the variant is linked to severe dysbetalipoproteinemia, the clinical manifestation can be complex and may not always result in the systemic health issues one might expect from the loss of a major protein. Because the evidence is based on rare clinical findings, the strength of the association between this specific variant and broader health outcomes remains a subject of ongoing investigation.
Population Frequency and Interpretation
The rs527236160 variant is considered extremely rare in the general population. Most individuals do not carry this deletion, and it is not a common polymorphism found in large-scale genomic databases. Because of its rarity, there is very little data regarding its frequency across different ancestral groups. When a variant is this uncommon, it is often identified only through targeted clinical sequencing rather than population-wide screening. For individuals who may have received information about this variant, it is important to understand that genetic findings are only one piece of a larger health puzzle. Clinical interpretation of such rare variants is best handled by medical professionals, such as genetic counselors or lipid specialists, who can contextualize the findings within an individual's personal and family medical history. Genetic data should never be used in isolation to make health decisions or self-diagnose.
What You Can and Cannot Do
If you have received information about the rs527236160 variant, it is essential to approach the data with caution. You cannot use this information to diagnose yourself with a medical condition or to predict your future health outcomes. Genetic variants are complex, and their impact can be influenced by diet, lifestyle, and other genetic factors. You should not make changes to your diet, exercise routine, or medication regimen based solely on a genetic report. Instead, use this information as a starting point for a conversation with your healthcare provider. A doctor or a certified genetic counselor can help you understand what the variant means in the context of your overall health, order appropriate clinical blood work to check your lipid levels, and provide guidance based on established medical guidelines. Always prioritize professional medical advice over information found in online databases or consumer genetic reports.
How common is this variant?
The rs527236160 variant is rare, with no significant frequency data available across major ancestral populations.
Frequently asked questions
Is rs527236160 the same as the APOE4 allele?
No, rs527236160 is a rare deletion variant, whereas APOE4 is a common genetic polymorphism associated with different health risks. They are distinct genetic markers within the same gene.
Does having this variant mean I have high cholesterol?
Not necessarily. While this variant has been linked to dysbetalipoproteinemia in specific clinical cases, a genetic variant alone does not confirm a diagnosis. You should consult a doctor to have your actual lipid levels measured.
Can I get tested for this variant?
This variant is not typically included in standard health or ancestry tests. If a medical professional suspects a rare lipid disorder, they may order specialized genetic testing.
What should I do if my report mentions this variant?
Do not panic or make health changes on your own. Schedule an appointment with your primary care physician or a lipid specialist to discuss the findings and determine if any clinical follow-up is necessary.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in APOE
This variant in the APOE locus has been identified as a significant marker associated with Alzheimer's disease neuropathology using genomic informational field theory.
Variant in the APOE/TOMM40 locus associated with late-onset Alzheimer's disease risk.
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.