What you carry at this position in your DNA and what research says about it.
Alzheimer's Disease Risk: 10/10 evidence, 166 publications.
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Sample genotype (not yours): T/T
Typical Alzheimer's and Cardiovascular Risk
Two copies of the common T allele are associated with baseline risk for late-onset Alzheimer's disease and typical cholesterol levels. This genotype does not carry the high-risk epsilon-4 variant of the APOE gene.
What this genotype means: Typical risk for late-onset Alzheimer's disease; Baseline cardiovascular and lipid profiles; Typical cognitive aging trajectory.
Sample genotype (not yours): C/C
Significantly Elevated Alzheimer's and Cardiovascular Risk
Two copies of the C allele are associated with a highly elevated risk of late-onset Alzheimer's disease and significantly higher LDL cholesterol levels. This homozygous APOE-epsilon-4 status makes brain-healthy and heart-healthy lifestyle choices exceptionally important.
What this genotype means: Up to 12x higher risk for late-onset Alzheimer's disease; Significantly elevated LDL and total cholesterol levels; Highly increased risk for vascular and Lewy body dementia.
Sample genotype (not yours): T/C
Increased Risk for Alzheimer's and Heart Disease
One copy of the C allele significantly increases the risk of developing late-onset Alzheimer's disease and elevates LDL cholesterol levels. This genotype represents the APOE-epsilon-4 carrier status, which warrants proactive cardiovascular and brain health habits.
What this genotype means: Approximately 3x higher risk for late-onset Alzheimer's disease; Elevated LDL cholesterol and triglyceride levels; Increased susceptibility to vascular dementia.
Gene function and biological role
Gene Function: Apolipoprotein E (APOE) encodes a critical protein involved in the transport and metabolism of lipids throughout the body [1]. It is highly expressed in the liver and brain, where it helps clear cholesterol and other fats from the bloodstream and cellular spaces [2]. In the central nervous system, APOE is the primary cholesterol carrier, essential for maintaining neuronal membranes and repairing brain injuries [3]. The gene exists in three major common forms, known as the epsilon-2, epsilon-3, and epsilon-4 variants, which differ slightly in their structure and function [4]. These structural differences significantly affect how efficiently the protein binds to receptors and clears lipid particles [1].
Variant Impact: The rs429358 variant is a missense mutation in the fourth exon of the APOE gene that changes the amino acid cysteine to arginine at position 130 of the precursor protein [2]. This specific change, often referred to as Cys112Arg in the mature protein, alters the physical structure and stability of the apolipoprotein E molecule [5]. When this arginine-carrying variant is co-inherited with a cytosine at the nearby rs7412 site, it creates the well-known APOE-epsilon-4 isoform [3]. This isoform has a higher affinity for very-low-density lipoproteins, which can lead to elevated circulating cholesterol levels [6]. It also impairs the clearance of amyloid-beta plaques in the brain, which is a hallmark of neurodegenerative processes [7].
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Key Insight: Carrying the C allele at this position is the single most significant common genetic risk factor for late-onset Alzheimer's disease, yet having it does not guarantee one will develop the condition.
Location: APOE. Chromosome 19 · 19q13.32 · 44.9 Mb
Estimated prevalence by population
Global 71.1%; European 74.3%; African 61.5%; East Asian 81.4%; South Asian 80.2%; Americas 78.6%; Ashkenazi 77.6%; Finnish 64.8%; Middle Eastern 86.8%; Amish 74.6%.
Estimated TT genotype frequency.
Global 26.2%; European 23.8%; African 33.8%; East Asian 17.6%; South Asian 18.7%; Americas 20.1%; Ashkenazi 21.0%; Finnish 31.4%; Middle Eastern 12.8%; Amish 23.5%.
Estimated TC genotype frequency.
Global 2.7%; European 1.9%; African 4.7%; East Asian 1.0%; South Asian 1.1%; Americas 1.3%; Ashkenazi 1.4%; Finnish 3.8%; Middle Eastern 0.5%; Amish 1.9%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Neurology & Mental Health
Neurodegenerative Diseases
Alzheimer's Disease. Evidence: 10/10. Source: PMID 8346443. Typical Risk.
Vascular Dementia. Evidence: 10/10. Source: PMID 31473137. Typical Risk.
Cognitive Performance
Cognitive Decline. Evidence: 10/10. Source: PMID 28078323. Typical Aging.
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 29403010. Typical Levels.
Triglycerides. Evidence: 10/10. Source: PMID 29507422. Typical Levels.
Heart Disease
Coronary Artery Disease. Evidence: 10/10. Source: PMID 36474045. Typical Risk.
Showing effects for C/C genotype
Alzheimer's Disease. Evidence: 10/10. Source: PMID 8346443. ~12x Increased Risk.
Vascular Dementia. Evidence: 10/10. Source: PMID 31473137. Highly Increased.
Cognitive Decline. Evidence: 10/10. Source: PMID 28078323. Significantly Faster.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29403010. Highly Elevated.
Triglycerides. Evidence: 10/10. Source: PMID 29507422. Highly Elevated.
Coronary Artery Disease. Evidence: 10/10. Source: PMID 36474045. Highly Increased.
Showing effects for T/C genotype
Alzheimer's Disease. Evidence: 10/10. Source: PMID 8346443. ~3x Increased Risk.
Vascular Dementia. Evidence: 10/10. Source: PMID 31473137. Increased Risk.
Cognitive Decline. Evidence: 10/10. Source: PMID 28078323. Faster Decline.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29403010. Elevated Levels.
Triglycerides. Evidence: 10/10. Source: PMID 29507422. Elevated Levels.
Coronary Artery Disease. Evidence: 10/10. Source: PMID 36474045. ~1.4x Increased Risk.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
A T/T genotype means you have the most common genetic profile at this position, which typically corresponds to the APOE-epsilon-3 isoform [1]. This isoform is considered neutral and serves as the baseline for comparing Alzheimer's and cardiovascular risk [2]. Research shows that individuals with this genotype do not experience the accelerated accumulation of amyloid-beta plaques in the brain associated with the variant allele [3]. Furthermore, your body maintains typical clearance of low-density lipoprotein (LDL) cholesterol and triglycerides, keeping cardiovascular risk at the population average [4]. Cognitive aging and memory performance generally follow typical trajectories without genetic acceleration [5]. While this genotype is protective compared to carrying the C allele, overall health is still heavily influenced by lifestyle factors like diet, exercise, and sleep [1].
Typical risk for late-onset Alzheimer's disease; Baseline cardiovascular and lipid profiles; Typical cognitive aging trajectory.
Sample genotype: CC (Homozygous)
A C/C genotype means you are homozygous for the APOE-epsilon-4 isoform, which is associated with the highest genetic risk for late-onset Alzheimer's disease [1]. Studies estimate that this genotype increases the lifetime risk of developing Alzheimer's by up to twelve-fold compared to the common genotype [2]. The complete absence of the typical APOE isoforms severely limits the brain's capacity to clear amyloid-beta plaques and repair neuronal membranes [3]. This genetic profile also leads to significantly elevated levels of LDL cholesterol, total cholesterol, and triglycerides in the bloodstream [4]. Consequently, there is a highly elevated risk of developing coronary artery disease and vascular dementia [5]. Proactive management of cardiovascular risk factors, such as maintaining healthy blood pressure and lipid levels, is crucial for supporting long-term brain health [2].
Up to 12x higher risk for late-onset Alzheimer's disease; Significantly elevated LDL and total cholesterol levels; Highly increased risk for vascular and Lewy body dementia.
Sample genotype: TC (Heterozygous)
Presence of one copy of the C allele means you have one copy of the APOE-epsilon-4 isoform, which is the strongest common genetic risk factor for late-onset Alzheimer's disease [1]. This single variant allele is associated with an approximately three-fold increase in the risk of developing dementia compared to the typical genotype [2]. The structural change in the APOE protein impairs its ability to clear amyloid-beta plaques from brain tissue, leading to earlier accumulation [3]. In the bloodstream, this isoform preferentially binds to larger lipid particles, resulting in higher circulating levels of LDL cholesterol and triglycerides [4]. This lipid imbalance contributes to a moderately elevated risk of coronary artery disease and other vascular complications [5]. However, genetics is not destiny, and many individuals with this genotype live long lives without ever developing cognitive decline [2].
Approximately 3x higher risk for late-onset Alzheimer's disease; Elevated LDL cholesterol and triglyceride levels; Increased susceptibility to vascular dementia.
Variants with shared genetic architecture
rs7412 · APOE Gene · Chr 19 · Cholesterol and Heart Risk
rs769449 · APOE Gene · Chr 19 · Alzheimer's Disease Risk
rs449647 · APOE Gene · Chr 19 · Alzheimer Risk and ApoE Levels
Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene.
Nucleotide sequence and structure of the human apolipoprotein E gene.
Longitudinal changes in cognition and behavior in asymptomatic carriers of the APOE e4 allele.
A large electronic-health-record-based genome-wide study of serum lipids.
Content updated August 2026.
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