APOE
Apolipoprotein E
Gene Number: 348
Location: 19q13.32
Key Functions: Cholesterol transport, lipid metabolism, maintenance and repair of brain cells
The APOE gene produces apolipoprotein E, a protein that helps transport cholesterol and other fats. It supports lipid clearance in the bloodstream and the movement of fats needed to maintain and repair brain cells [R].
This report examines rs429358 and rs7412, which together identify the three common APOE forms: ε2, ε3 and ε4. Their combinations influence cholesterol metabolism and susceptibility to late-onset Alzheimer’s disease. Read both SNPs together using the guide below.
For related reports, explore PCSK9 and LDL cholesterol or SNCA and Parkinson’s disease susceptibility.
SNP ID | Your Genotype | Alt Allele | Interpretation |
|---|---|---|---|
rs429358 | Analyze your DNA to see your genotype | C | Analyze your DNA to see a personalized result. |
rs7412 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
Understanding Your APOE Type
Match your results for both SNPs to the table below. All genotypes use the forward strand; CT and TC mean the same thing.
rs429358 | rs7412 | Common APOE type |
TT | TT | ε2/ε2 |
TT | CT | ε2/ε3 |
TT | CC | ε3/ε3 |
CT | CT | ε2/ε4 |
CT | CC | ε3/ε4 |
CC | CC | ε4/ε4 |
This table covers the three common APOE forms. CT/CT is conventionally interpreted as ε2/ε4; exceptionally rare combinations can require additional testing to establish which variants were inherited together. If either SNP is missing, the complete type cannot be assigned using this table
APOE and Alzheimer’s Disease
The estimates below compare each type with ε3/ε3, using the non-Hispanic White group of 34,021 participants in a 2023 study [R].
ε2/ε2 — Lower Alzheimer’s disease ris.
ε2/ε3 — Lower Alzheimer’s disease risk.
ε3/ε3 — The most common comparison type. Alzheimer’s disease can still develop without ε4.
ε2/ε4 — Increased Alzheimer’s disease risk. The ε2 form does not fully offset the ε4 association.
ε3/ε4 — Increased Alzheimer’s disease risk.
ε4/ε4 — Substantially increased Alzheimer’s disease risk.
APOE and Cholesterol
ε2/ε3 generally tends toward lower LDL cholesterol, while ε3/ε4 and ε4/ε4 tend toward higher LDL than ε3/ε3. A large analysis found approximately 31% lower average LDL cholesterol in ε2/ε2 than ε4/ε4, illustrating the difference between the two extremes [R].
ε2/ε2 has an important exception: although LDL may be lower, clearance of other cholesterol-rich particles can be impaired. This increases susceptibility to type III hyperlipoproteinemia, a condition involving elevated cholesterol and triglycerides [R].
Your APOE type describes an inherited tendency; a lipid panel shows your current cholesterol and triglyceride levels.
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