G
Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

APOE

Apolipoprotein E

CHR 19
19q13.32

Overview

APOE encodes Apolipoprotein E, a protein that plays a major role in lipid metabolism and is associated with Alzheimer’s risk.

📍 Chromosomal Position

19q13.32 (Chromosome 19)

🧬 Gene Category

Metabolism

🔬 Inheritance

Codominant

📊 Prevalence

APOE-ε4: ~15% carry at least one allele

Function & Significance

Apolipoprotein E is a major component of lipoproteins and plays a central role in the transport and metabolism of cholesterol and other lipids in the body.

🧬 APOE Variants

There are three main variants of the APOE gene:

  • APOE-ε2 – Potentially protective against Alzheimer’s
  • APOE-ε3 – Most common variant, neutral
  • APOE-ε4 – Significantly increases Alzheimer’s risk

Associated Diseases

  • 🧠 Alzheimer’s Disease

    APOE-ε4 is the strongest genetic risk factor for sporadic Alzheimer’s disease

  • ❤️ Cardiovascular Diseases

    Influence on cholesterol levels and atherosclerosis risk

  • 💉 Hyperlipoproteinemia Type III

    Rare lipid metabolism disorder

Clinical Relevance

⚕️ APOE Genotyping

APOE testing can be helpful for:

  • Risk assessment for Alzheimer’s disease
  • Evaluation of cardiovascular risk
  • Personalized prevention strategies

Important: APOE-ε4 does not mean you will definitely develop Alzheimer’s – it only increases the risk.

💊 Prevention & Management

Recommended for APOE-ε4 carriers:

  • Healthy nutrition (Mediterranean diet)
  • Regular physical activity
  • Mental stimulation
  • Monitoring of cholesterol and blood pressure
  • Avoidance of head injuries

🧬 Relevant SNPs (Single Nucleotide Polymorphisms)

The APOE variants are defined by two SNPs:

rs429358
19:44908684
Allele 1

T

/

Allele 2

C

Significance: Defines the APOE ε4 allele (increased Alzheimer’s risk). The C allele is associated with a 3-4 fold increased risk for Alzheimer’s disease.

rs7412
19:44908822
Allele 1

C

/

Allele 2

T

Significance: Defines the APOE ε2 allele (possibly protective). The T allele may be linked to a reduced Alzheimer’s risk.

📊 APOE Genotypes

The combination of these two SNPs determines the APOE genotype:

  • ε2/ε2, ε2/ε3: Potentially protective
  • ε3/ε3: Neutral (most common genotype)
  • ε3/ε4: Moderately increased risk
  • ε4/ε4: Significantly increased risk (10-15 fold)

📚 Data Sources

The information on this page is based on the following scientific sources:

  • OMIM: #107741 – Online Mendelian Inheritance in Man
  • AlzGene Database: Alzheimer Disease Genetics
  • dbSNP: rs429358, rs7412 – SNP Database (NCBI)
  • ClinVar: Clinical Variant Database (NCBI)
  • PubMed: Cardiovascular & Alzheimer Research

Last Update: February 2026

Biological Function

Apolipoprotein E is a major component of lipoproteins and plays a central role in the transport and metabolism of cholesterol and other lipids in the body. There are three main variants (ε2, ε3, ε4), with APOE-ε4 increasing the risk for Alzheimer's disease, while APOE-ε2 may be protective.

Associated Conditions

Alzheimer's Disease (Risk Factor) Cardiovascular Diseases Hyperlipoproteinemia Type III
Molecular Analysis

Analyzed Markers

rs429358 Risk Factor
Pos: 19:44908684 | Alleles: T/C

Defines APOE ε4 allele (increased Alzheimer's risk)

rs7412 Protective/Risk Modified
Pos: 19:44908822 | Alleles: C/T

Defines APOE ε2 allele (possibly protective)