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ATM and TP53BP1 in cardiovascular diseases
https://doi.org/10.25557/2073-7998.2025.05.54-55
Abstract
Polymorphism of genes encoding proteins of DNA repair systems was studied in three groups of patients with various cardiovascular diseases (CVD) in comparison with a population sample and a group of long-livers. Regression analysis revealed statistically significant differences between all groups for rs560191 of the TP53BP1 (p=4.01E-4) gene and rs1801516 of the ATM gene (p=1E-7). Pairwise comparisons of samples revealed differences in the ATM gene between the group of centenarians and patients with both chronic coronary heart disease (rs1801516: p=0.027 (alleles) and p=0.040 (genotypes)) and ST-segment elevation myocardial infarction (rs1189037: p=0.017 (alleles) and p=0.027 (genotypes)). The obtained differences prompt us to pay closer attention to the studied group of genes in the context of their involvement in the predisposition to CVD.
Supporting agencies: The work was partially financed by the State Assignment of the Ministry of Science and Higher Education (No. 122020300041-7 and No. 122020300043-1). Genotyping was performed at the Shared Resource Centre «Medical Genomics» using DNA from the Northern Eurasia Population Biobank of the Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences.
About the Authors
N. P. Babushkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050, Russian Federation
A. D. Dolbnya
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050, Russian Federation
A. E. Postrigan
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050, Russian Federation
V. V. Ryabov
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
111A, Kievskaya st., Tomsk, 634012, Russian Federation
A. A. Garganeeva
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
111A, Kievskaya st., Tomsk, 634012, Russian Federation
References
1. Cuella-Martin R., Oliveira C., Lockstone H.E. et al. 53BP1 Integrates DNA Repair and p53-Dependent Cell Fate Decisions via Distinct Mechanisms Mol Cell. 2016;64(1):51-64.
2. Lee J.H. Oxidative stress and the multifaceted roles of ATM in maintaining cellular redox homeostasis. Redox Biol. 2024;75:103269.
Review
For citations:
Babushkina N.P., Dolbnya A.D., Postrigan A.E., Ryabov V.V., Garganeeva A.A. ATM and TP53BP1 in cardiovascular diseases. Medical Genetics. 2025;24(5):54-55. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.54-55
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