Polymorphism of ApoE in Alzheimer's Disease: Genetic Study in Castile and Leon (Spain)

Universidad de León

Status: Completed

Conditions: Alzheimer Disease

Treatments: Other: Cholesterol levels according to ApoE Genotype; Other: Assessing cardiovascular risk factors in all participants; Diagnostic Test: Kit Buccal swab collection & stabilization de Canvax®

Study type: Interventional

Funder types: Other

Identifiers

NCT06275243

ETICA-ULE-021-2022

Details and patient eligibility

About

The general objective of this randomized and longitudinal clinical study was to estimate the frequencies of ApoE variants both in the user population of the "Messengers of Peace" Residences and the "Associations of Relatives of Alzheimer's Patients" in Castile y Leon, since, due to its geographical location at the crossroads, it has received multiple genetic contributions from both northern Europe, the Mediterranean area and northern Africa.

The main questions it aims to answer are:

• What are the allelic frequencies of ApoE variants in the population of individuals with Alzheimer's disease in Castile and Leon?
• Is there a correlation between the ApoE4 variant and the lipid profile in the blood of individuals with Alzheimer's disease in this region?

Full description

In the context of Alzheimer disease research, it is widely recognized that the ApoE gene plays a fundamental role in the genetic predisposition of this disease. With three major alleles: ApoE2, ApoE3, and ApoE4, genetic variability in the ApoE gene has been the subject of extensive attention in previous research and its association with increased risk of Alzheimer's disease has remained consistent. Within this framework, three hypotheses are proposed focused on understanding the specific influence of ApoE on Alzheimer's disease and exploring the possible underlying mechanisms.

Within this framework, three hypotheses are proposed focused on understanding the specific influence of ApoE on Alzheimer disease and exploring the possible underlying mechanisms:

1. • Research hypotheses: The genetic variant ApoE4/4 is significantly related to a higher risk of developing Alzheimer's disease compared to individuals who do not carry this genotype.
2. • Research hypotheses: The ApoE2/2 genetic variant is associated with a lower risk of developing Alzheimer's disease compared to other genotypes.
3. • Research hypotheses: People who carry the ApoE4 isoform have elevated levels of total cholesterol and LDL-cholesterol.

Enrollment: 511 patients

Sex: All

Ages: 60 to 90 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Be between 60 and 90 years old.
• Subjects with a diagnosis of AD in the case group.
• Subjects free of AD diagnosis in the control group.
• Subjects who voluntarily and consented to participate free of charge.
• Have completed the written consent

Exclusion criteria

• Subjects who, at the time of sample collection, had behavioral or other alterations that made the sample collection procedure impossible.
• Subjects who, at the time of sample collection, presented oral alterations incompatible with the technique.

Trial design

Primary purpose: Diagnostic

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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511 participants in 2 patient groups

Group of cases diagnosed with Alzheimer's disease

Active Comparator group

Description:

Participants: Men and women with age between 60 and 90 years

Treatment:

Other: Assessing cardiovascular risk factors in all participants

Diagnostic Test: Kit Buccal swab collection & stabilization de Canvax®

Other: Cholesterol levels according to ApoE Genotype

Control group of healthy individuals without a diagnosis of Alzheimer's disease

Sham Comparator group

Description:

Participants: Men and women with age between 60 and 90 years

Treatment:

Other: Assessing cardiovascular risk factors in all participants

Diagnostic Test: Kit Buccal swab collection & stabilization de Canvax®