APOE Phenotype details
What APOE Phenotype shows
Apolipoprotein E (ApoE) is a protein that helps carry cholesterol and other fats in your blood and brain. It comes in three common forms, E2, E3 and E4, determined by the versions of the APOE gene you inherited from each parent. This test identifies which forms are present in your plasma, which reflects your APOE type. Carrying one or two E4 copies is linked with a higher risk of Alzheimer's disease and with higher cholesterol, while E2 is linked with a lower Alzheimer's risk and, rarely, certain lipid disorders. The result reflects a lifelong inherited variant, not a level that changes, and it shows risk, not whether you have or will develop a disease.
Tests that include APOE Phenotype
Apolipoprotein E (ApoE) is a well-defined genetic risk factor for late-onset Alzheimer's disease (AD). The human APOE gene has three polymorphic alleles, E2, E3 and E4 that result in six different genotypes: E2/E2, E2/E3, E3/E3, E2/ E4, E3/E4 and E4/E4. About half of AD patients carry the E4 allele (compared with 14% in the general population), with the majority being heterozygotes (E3/E4). The number of inherited E4 alleles is associated with both increased disease risk and decreased average age of onset compared with inheritance of the E2 or E3 alleles. The differences between the three ApoE isoforms are based on two amino acids that affect its structure and hence the interaction and binding of the protein with various lipids and beta-amyloid (AB). ApoE and AB can co-localize in the brain, and therefore their complementary roles in AD have been studied extensively. Circulating plasma and CSF ApoE levels were recently found to be potential biomarkers for AD.
- APOE Phenotype Identifies which apolipoprotein E forms (E2, E3, E4) are in your blood, which reflect inherited gene variants linked to Alzheimer's and heart disease risk.
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