7096. 7096. Genetics. Apolipoprotein E. Comprehensive evaluation of rs429358 and rs7412 polymorphisms

A genetic study that determines the main variants of the APOE gene – ε2, ε3 and ε4. The analysis helps to assess the genetic predisposition to late-onset Alzheimer's disease, as well as to certain disorders of cholesterol and other lipid metabolism.

The APOE gene contains information for the formation of apolipoprotein E, a protein involved in the transport and exchange of cholesterol and other lipids in the body. During the research, polymorphisms rs429358 and rs7412 are determined, the combination of which forms three main variants of the APOE gene – ε2, ε3 and ε4. Each person inherits one variant of the gene from their mother and father, and their combination forms the APOE genotype.

The ε3 option is the most common. The presence of ε4 is associated with an increased likelihood of developing late-onset Alzheimer's disease, especially when two copies of ε4 are present. However, detection of ε4 does not necessarily mean that the disease will develop: many carriers of this variant never develop the disease, and Alzheimer's disease can occur in people without ε4. Age, cardiovascular status, comorbidities, family history, and lifestyle also affect risk.

APOE variants can also affect cholesterol and other lipid levels in the blood. In particular, the ε2/ε2 genotype may be associated with a predisposition to familial dysbetalipoproteinemia, a hereditary disorder of lipid metabolism that may be accompanied by a simultaneous increase in cholesterol and triglyceride levels. At the same time, one genetic variant is usually not enough for the development of the disease, so the result must be evaluated together with the lipid profile, other laboratory parameters and clinical data.

The APOE study does not confirm or exclude Alzheimer's disease or disorders of lipid metabolism, but only provides information about the genetic predisposition to their development. It is not intended for self-diagnosis or mass screening. The result should be interpreted together with other risk factors, examination data and family history, preferably after consultation with a neurologist or medical geneticist.

• Adults with a family history of late-onset Alzheimer's disease who are considering genetic susceptibility testing, after consultation with a neurologist or medical geneticist.
• In patients before starting treatment with individual anti-amyloid drugs for the treatment of Alzheimer's disease, to assess the risk of developing amyloid-associated changes according to neuroimaging data (ARIA).
• In case of persistent simultaneous increase in cholesterol and triglyceride levels or the presence of other signs that may indicate familial dysbetalipoproteinemia, as part of a comprehensive examination.

• Venous blood

In order to exclude factors that may affect the test results, we recommend to follow the preparation rules: