ApoE genotyping

What is being analysed?

ApoE genotyping is a genetic test that examines variations in the Apolipoprotein E (ApoE) gene. Specifically, it identifies three common alleles: ε2, ε3, and ε4. These alleles influence an individual's risk of developing Alzheimer's disease.

 

What does the result mean?

The results of ApoE genotyping provide information about an individual's genetic predisposition to Alzheimer's disease. Each allele has a different impact on risk:

ε2 allele: Associated with a decreased risk of Alzheimer's disease. ε3 allele: Considered neutral; it neither increases nor decreases the risk significantly. ε4 allele: Associated with an increased risk of developing Alzheimer's disease, especially when inherited in duplicate (homozygous ε4/ε4).

 

Why perform the analysis?

Performing ApoE genotyping helps individuals and healthcare providers understand the genetic risk factors for Alzheimer's disease. It allows for personalised risk assessment, which can inform preventive measures and potential early interventions.

Once the sample is collected, laboratory techniques like polymerase chain reaction (PCR) are employed to amplify and analyse the DNA, specifically targeting the ApoE gene. The resulting genotype is then interpreted to assess the individual's risk profile for Alzheimer's disease.

 

When should the analysis be done?

The analysis can be performed at any age, but it is particularly beneficial for individuals with a family history of Alzheimer's disease or those concerned about their risk factors.

 

What sample is required? Is any prior preparation necessary?

The analysis typically requires a sample of DNA, which can be obtained from various sources such as blood, saliva, or buccal swabs. No specific prior preparation is necessary.

 

What are the normal values?

Normal values refer to the absence of the ε4 allele. Therefore, individuals without the ε4 allele (ε2/ε2, ε2/ε3, ε3/ε3) are considered to have a lower genetic risk of Alzheimer's disease.

 

Table of ApoE genotypes and associated risk:

Genotype

Risk of Alzheimer's Disease

ε2/ε2

Decreased

ε2/ε3

Slightly decreased

ε3/ε3

Neutral

ε2/ε4

Increased

ε3/ε4

Increased

ε4/ε4

Significantly increased

Note: Risk levels are relative and influenced by other factors besides genetics.

 

What does having altered values mean?

Having altered values refers to the presence of the ε4 allele, particularly in a homozygous state (ε4/ε4). This configuration significantly increases the risk of developing Alzheimer's disease. However, it's essential to note that genetic predisposition is just one factor contributing to the disease, and not all individuals with the ε4 allele will develop Alzheimer's.