Clinical trial NCT06275243: Polymorphism of ApoE in Alzheimer's Disease: Genetic Study in Castile and Leon (Spain)
Official title: Alzheimer's Disease as a Sociosanitary Priority: ApoE Gene Polymorphism
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Alzheimer Disease
Keywords: Alzheimer's disease
ApoE polymorphism
Geographical distribution
Cardiovascular factors
Total cholesterol
Lead sponsor: Universidad de León
Sponsor class: OTHER
Collaborators: name: Consejo General de Colegios Oficiales de Enfermería España
First posted: 2024-02-23
Enrollment: 511
Sex: ALL
Minimum age (years): 60
Maximum age (years): 90
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: RANDOMIZED
Intervention model: PARALLEL
Intervention model description: It is a longitudinal randomised clinical study, in which two study groups were used. A group of cases diagnosed with Alzheimer's disease and a control group of healthy individuals without Alzheimer's disease.
Primary purpose: DIAGNOSTIC

Brief summary: 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?

Detailed 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Distribution of ApoE variants in the Alzheimer's disease population diagnosed in Castile and Leon.
timeFrame: 9 months
Secondary outcomes:
measure: Cardiovascular factors in individuals with Alzheimer's disease and healthy subjects.
timeFrame: 9 months
measure: ApoE genotypes and cholesterol levels in the Alzheimer's disease population diagnosed in Castile and Leon.
timeFrame: 9 months
Other outcomes:
Locations:
city: León
country: Spain
facility: University of León
Study officials:
References:
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citation: Gonzalez RD, Gomes I, Gomes C, Rocha R, Duraes L, Sousa P, Figueruelo M, Rodriguez M, Pita C, Hornero R, Gomez C, Lopes AM, Pinto N, Martins S. APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol. Genes (Basel). 2020 Dec 22;12(1):4. doi: 10.3390/genes12010004.