ANALYSIS OF VARIANTS IN THE ACE1 AND LRP1 GENES AND THEIR ASSOCIATION WITH ALZHEIMER'S DISEASE IN GREATER VITÓRIA/ES: POTENTIAL GENETIC BIOMARKERS FOR COMPLEMENTARY DIAGNOSIS
Name: VICTOR ALVES LOPES
Publication date: 26/02/2025
Examining board:
Name |
Role |
|---|---|
| CARLOS MAGNO DA COSTA MARANDUBA | Examinador Externo |
| FLAVIA DE PAULA | Presidente |
| FLAVIA IMBROISI VALLE ERRERA | Examinador Interno |
Summary: The accelerated aging of the Brazilian population has contributed to the increasing prevalence of chronic diseases such as Alzheimer’s disease (AD), a multifactorial condition involving complex interactions between genetic and environmental factors.
This study aimed to analyze genetic variants in the ACE1 (INDEL rs4646994) and LRP1 genes and their association with AD in a population from Greater Vitória, Espírito Santo, to identify potential genetic biomarkers for complementary diagnosis. A cross-
sectional, analytical, and observational study was conducted with 246 participants clinically diagnosed with sporadic AD, matched by sex, age, and ethnicity. Blood samples were collected for genomic DNA extraction, followed by PCR and agarose gel
electrophoresis for genotyping. The results showed no significant association between the INDEL variant of the ACE1 gene and AD or the APOE 4 allele status, suggesting a limited contribution of this variant in the studied population. Conversely, the LRP1
gene showed a significant association, with the D allele (DD+ID) displaying a potentially protective role against AD. These findings reinforce the multifactorial nature of AD and highlight the influence of regional genetic characteristics, considering the
historical diversity and genetic admixture of the Espírito Santo population. This study contributes to understanding genetic differences between populations and supports the development of personalized medicine strategies for the diagnosis and treatment of AD.
