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Updated: Jul 10, 2026
14:57
Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
TP53 codon 72 polymorphism as a risk factor for cardiovascular disease in a Brazilian population
M A C Smith1, M D A Silva, M S Cendoroglo
1Disciplina de Genética, Departamento de Morfologia e Genética, Escola Paulista de Medicina, Universidade Federal de São PauloSão Paulo, SP, Brasil. macsmith.morf@epm.br
Summary
The TP53 codon 72 polymorphism in Brazilian elderly did not link to most age-related diseases. However, carriers of the R allele had lower HDL and more cardiovascular disease.
Area of Science:
- Genetics
- Gerontology
- Molecular Biology
Background:
- The TP53 gene is a crucial tumor suppressor involved in cell cycle regulation, apoptosis, and senescence.
- Understanding TP53 gene variations in older adults and age-related diseases can illuminate its physiological and pathophysiological roles.
- TP53 codon 72 (TP53:72) polymorphism is a specific genetic variation within the TP53 gene.
Purpose of the Study:
- To investigate the TP53:72 polymorphism in a Brazilian elderly cohort.
- To determine the association of this polymorphism with various age-related diseases and serum biochemical markers.
- To analyze allele frequencies, genotype distributions, and their correlation with health outcomes in older individuals.
Main Methods:
- Studied 383 individuals aged 66-97 from the Brazilian Elderly Longitudinal Study.
- Isolated DNA from blood cells and amplified TP53 exon 4 using PCR.
- Genotyped the TP53:72 polymorphism using BstUI enzyme digestion and analyzed associations with diseases and serum levels via statistical tests.
Main Results:
- Allele frequencies (R=0.69, P=0.31) and genotype distributions were consistent with Hardy-Weinberg equilibrium and similar to other populations.
- No significant association was found between the TP53:72 polymorphism and major age-related diseases (e.g., type II diabetes, neoplasia, dementia) or most serum variables.
- TP53:72 R allele carriers exhibited lower high-density lipoprotein (HDL) levels and a higher prevalence of cardiovascular disease compared to P allele carriers.
Conclusions:
- The TP53:72 polymorphism did not demonstrate a strong link with a broad spectrum of age-related diseases in this Brazilian elderly cohort.
- A potential association between the TP53:72 R allele, reduced HDL levels, and increased cardiovascular disease risk warrants further investigation in this population.
- These findings contribute to understanding the specific role of TP53 genetic variations in the health of elderly Brazilians.
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