Alzheimer’s Disease

The APOE (Apolipoprotein E) gene encodes a protein involved in lipid metabolism and the regulation of brain homeostasis. It is one of the most significant genetic risk factors for Alzheimer’s disease (AD), influencing the neurodegenerative process through multiple mechanisms.

There are three major APOE alleles (ε2, ε3, ε4), which differ in structure and function:

• APOE ε2: Protective role against Alzheimer’s
• APOE ε3: Most common allele (~75% of the population); considered neutral in terms of Alzheimer’s risk
• APOE ε4: The strongest genetic risk factor for Alzheimer’s disease

APOE ε4 and Increased Risk of Alzheimer’s Disease

The presence of the ε4 allele is associated with a higher risk of developing Alzheimer’s and with faster disease progression.

• Individuals with one ε4 allele (ε3/ε4) have a 2–3 times higher risk compared to those without ε4
• Individuals with two ε4 alleles (ε4/ε4) have up to a 12-fold increased risk, with a greater likelihood of early-onset disease

Clinical Benefits of APOE Genetic Testing

Differential Diagnosis

Testing for the APOE gene can help differentiate Alzheimer’s disease from other forms of dementia.
(Also see GENOSOPHY®’s Comprehensive Genetic Panel for Dementia and Alzheimer’s Disease.)

Prognosis

• The ε4 allele is associated with faster disease progression and increased amyloid plaque accumulation in the brain
• Helps assess risk in individuals with a family history of dementia

Management & Therapy

• Individuals with the ε4 allele may respond differently to medications, such as acetylcholinesterase inhibitors (lower response rates)
• Enables personalized prevention strategies, including:
• Targeted lifestyle modifications (nutrition, physical activity, cognitive stimulation)

Use of GENOSOPHY®’s MINDguard nutrition program to support cognitive health and memory