APOE
Apolipoprotein E
Gene Number: 348
Location: 19q13.32
Key Functions: Lipid transport, cholesterol metabolism, neuronal repair, cardiovascular and neurological health
APOE encodes apolipoprotein E, a key lipid transport protein that facilitates the redistribution of cholesterol and phospholipids between cells. It supports cellular membrane integrity, lipid metabolism, and neuronal repair mechanisms.
APOE isoforms influence cardiovascular and cognitive outcomes. The APOE ε4 allele is strongly associated with increased risk for Alzheimer's disease and cardiovascular conditions, while the ε2 allele may offer some protective effects.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs429358 | No matching variant or no valid DNA data | C | No interpretation available |
rs7412 | No matching variant or no valid DNA data | T | No interpretation available |
rs429358
TT – Associated with ε2 or ε3 status (normal to protective baseline; see combined diplotype block below) (R).
TC – Heterozygous ε4 carrier; ~3× increased risk for late-onset Alzheimer’s disease vs ε3/3 (R).
CC – ε4/ε4; ~12× higher risk for late-onset Alzheimer’s, and dramatically increased risk of early-onset AD (R).
Functional effect: The C allele creates the detrimental ε4 isoform, impairing amyloid-β clearance and increasing cognitive decline and AD vulnerability.
rs7412
CC – Corresponds to ε4 or ε3 depending on rs429358; baseline context for Alzheimer’s/generally neutral risk (R).
CT – Heterozygous ε2 carrier; modestly protective against AD and often associated with favorable lipid profiles (R).
TT – ε2/ε2; most protective genotype for AD risk, though linked to type III hyperlipoproteinemia (R).
Functional effect: The T allele generates the protective ε2 isoform, enhancing lipid clearance and reducing Alzheimer’s risk—but can predispose to type III hyperlipoproteinemia in homozygous state.
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