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Sarcomeric genes polymorphism in hypertrophic cardiomyopathy: association of genetic variants in TPM1 with echocardiographic parameters.
https://doi.org/10.25557/2073-7998.2025.12.28-33
Abstract
Hypertrophic cardiomyopathy (HCM) is a common hereditary disease. Clinical polymorphism regarding age of onset and disease progression, which is evident even in the carriers of the same pathogenic variant, suggests the influence of additional factors, including genetic ones, on the HCM phenotype. In this study, a search was conducted for an association between the TPM1 and TNNT2 gene polymorphisms and echocardiographic parameters variability in patients with HCM. An association of the left ventricular ejection fraction value with genotypes for two variants (rs1071646 and rs111470259 located in the non-coding regions of the TPM1 gene) was found. These variants may be important for the regulation of gene expression. An association with the interventricular septum thickness, left ventricular mass, and left ventricular mass index was also found for rs1071646. The obtained results allow us to assume that in addition to pathogenic variants in the genes of sarcomeric proteins, which are necessary for the development of the disease, some individual polymorphisms can have a modifying effect on the formation of the HCM phenotype.
Keywords
hypertrophic cardiomyopathy,
genes of sarcomeric proteins,
echocardiographic parameters,
troponin T gene,
tropomyosin gene
Supporting agencies: The work was carried out within the framework of the State Assignment of the Ministry of Science and Higher Education No. 122020300041-7
About the Authors
N. R. Valiakhmetov
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Россия
Россия
M. V. Golubenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Россия
Россия
E. R. Shaidurova
Siberian State Medical University of the Ministry of Health of the Russian Federation
Россия
Россия
R. R. Salakhov
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Россия
Россия
A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Россия
Россия
M. S. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences; Siberian State Medical University of the Ministry of Health of the Russian Federation
Россия
Россия
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Review
For citations:
Valiakhmetov N.R., Golubenko M.V., Shaidurova E.R., Salakhov R.R., Zarubin A.A., Nazarenko M.S. Sarcomeric genes polymorphism in hypertrophic cardiomyopathy: association of genetic variants in TPM1 with echocardiographic parameters. Medical Genetics. 2025;24(12):28-33. (In Russ.) https://doi.org/10.25557/2073-7998.2025.12.28-33
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