APOE

Clinical information

Alzheimer’s disease (AD) comes in different forms. For diagnosis, imaging techniques are employed to analyse, among others, the presence and extent of senile plaques, which are primarily composed of the protein amyloid beta (Aβ). These deposits can impair the supply to nerve cells and thus lead to nerve cell degeneration and death.

In recent years, one focus of AD research has been on the development of monoclonal antibodies (mAbs), which are directed against Aβ plaques and thus enable treatment of the disease. However, clinical studies have shown that treatment with anti-Aβ antibodies can have a secondary effect: it can lead to so-called amyloid-related imaging abnormalities (ARIA), which can be life-threatening. The risk of developing ARIA under anti-Aβ antibody treatment varies depending on the genotype of the apolipoprotein E (APOE) gene a patient carries. As carriers of the ԑ4/ԑ4 genotype have an increased risk and carriers of the ԑ2/ԑ4 and ԑ3/ԑ4 genotypes have a slightly increased risk of developing ARIA, genotyping is useful in risk evaluation.

The EURORealTime APOE is a PCR-based test for the molecular diagnostic determination of APOE genotypes ԑ2/ԑ2, ԑ2/ԑ3, ԑ2/ԑ4, ԑ3/ԑ3, ԑ3/ԑ4 and ԑ4/ԑ4 and is thus an aid in the proactive evaluation of risk factors for anti-Aβ antibody treatment in AD patients. The assay allows fast and simple determination of the APOE gene variants ε2, ε3 and ε4 in a single test.

Diagnostics

Certain APOE genotypes can be risk factors for the development of AD. Furthermore, arteriosclerosis and other vascular diseases such as coronary heart disease and stroke are also associated with the presence of particular APOE alleles.
The EUROArray APOE Direct provides qualitative molecular genetic in vitro determination of the ԑ2/ԑ2, ԑ2/ԑ3, ԑ2/ԑ4, ԑ3/ԑ3, ԑ3/ԑ4 and ԑ4/ԑ4 genotypes of the APOE gene by means of PCR and subsequent microarray hybridisation. It can be used to support the diagnosis of late-onset sporadic AD and type III hyperlipoproteinemia.
The assay allows reliable determination of the APOE gene variants ε2, ε3 and ε4 in a single test. Thanks to the direct method, whole blood samples can be used, which eliminates the need for time- and cost-intensive DNA isolation.

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APOE genotyping

Whitepaper: APOE genotyping