Análise de variantes nos genes ACE1 e LRP1 e sua associação com a doença de Alzheimer na Grande Vitória/ES : potenciais biomarcadores genéticos para diagnóstico complementar
Nenhuma Miniatura disponível
Data
2025-02-26
Autores
Lopes, Victor Alves
Título da Revista
ISSN da Revista
Título de Volume
Editor
Universidade Federal do Espírito Santo
Resumo
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 ε4 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
Descrição
Palavras-chave
Estudo de associação , Herança multifatorial , Demência , Polimorfismo genético , Association study , Multifactorial inheritance , Dementia , Genetic polymorphism