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Prognostic model for the development of cardiomyopathies based on genetic predictors

https://doi.org/10.15829/1560-4071-2024-5863

EDN: SFVLQJ

Abstract

Aim. To develop a prognostic model for the development of primary and secondary cardiomyopathy based on genetic predictors.

Material and methods. The study included 221 patients with cardiomyopathy. The mean age of the participants was 55,30±9,69 years, with the age range from 20 to 77 years. Two following groups of patients were determined: the first group (n=111) with idiopathic dilated cardiomyopathy (DCM) and the second group (n=110) with ischemic myocardial dilation. DNA was extracted from the venous blood of all participants using phenol-chloroform extraction for subsequent genotyping using polymerase chain reaction and restriction fragment length polymorphism analysis.

Results. The performed multivariate analysis using the stepwise selection method showed a significant effect of the following predictors at the third step: AG/GG allelic variant of the SCN5A gene (rs1805124), 6a/6a allelic variant of the MMP3 gene (rs35068180) and the patient's age.

The performed multivariate analysis using the stepwise selection showed a significant effect of the following predictors: AG/GG allelic variant of the CTLA4 gene (rs231775), AA and AG allelic variants of the SCN5A gene (rs1805124).

Conclusion. Genetic studies on cardiomyopathies reveal significant associations between certain single nucleotide polymorphisms and the risk of disease development. The study results showed that the AG/GG allelic variant of the SCN5A gene (rs1805124), 6a/6a allelic variant of the MMP3 gene (rs35068180) and the patient's age have prognostic significance in the development of DCM. In addition, AG/GG allelic variant of the CTLA4 gene (rs231775), AA and AG allelic variants of the SCN5A gene (rs1805124) have prognostic significance in the development of ischemic myocardial dilation.

About the Authors

S. Yu. Nikulina
Voino-Yasenetsky Krasnoyarsk State Medical University
Russian Federation

Krasnoyarsk


Competing Interests:

None



O. O. Kuznetsova
Voino-Yasenetsky Krasnoyarsk State Medical University; Federal Center for Cardiovascular Surgery
Russian Federation

Krasnoyarsk


Competing Interests:

None



G. V. Matyushin
Voino-Yasenetsky Krasnoyarsk State Medical University
Russian Federation

Krasnoyarsk


Competing Interests:

None



A. A. Chernova
Voino-Yasenetsky Krasnoyarsk State Medical University
Russian Federation

Krasnoyarsk


Competing Interests:

None



V. N. Maksimov
Research Institute for Internal and Preventive Medicine
Russian Federation

Novosibirsk


Competing Interests:

None



References

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Supplementary files

  • Genetic studies on cardiomyopathies reveal significant associations between certain single nucleotide polymorphisms and the disease risk.
  • The AG/GG allelic variant of the SCN5Agene (rs1805124), 6a/6a allelic variant of the MMP3gene (rs35068180) and the patient's age have pro­gnostic significance in the development of DCM, while the AG/GG allelic variant of the CTLA4 gene (rs231775), AA and AG allelic variants of the SCN5A gene (rs1805124) have prognostic significance in the development of ischemic myo­cardial dilation.
  • However, additional studies are needed to confirm these associations and fully understand their mecha­nisms, including large cohort studies and meta-analyses.

Review

For citations:


Nikulina S.Yu., Kuznetsova O.O., Matyushin G.V., Chernova A.A., Maksimov V.N. Prognostic model for the development of cardiomyopathies based on genetic predictors. Russian Journal of Cardiology. 2024;29(11):5863. (In Russ.) https://doi.org/10.15829/1560-4071-2024-5863. EDN: SFVLQJ

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ISSN 1560-4071 (Print)
ISSN 2618-7620 (Online)