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Associations of haplotypes in the sarcomeric genes with echocardiographic parameters in hypertrophic cardiomyopathy
https://doi.org/10.25557/2073-7998.2025.10.58-60
Abstract
Hypertrophic cardiomyopathy (HCM) is a common hereditary disease with clinical polymorphism. The aim of the study was to explore the association of sarcomeric genes polymorphisms with the echocardiographic parameters in patients with HCM. Associations were found for the common haplotypes in TPM1 and TNNT2 with phenotype (age of onset, hypertrophy and ejection fraction of left ventricule), which allows us to suggest the modifying effect of these haplotypes for HCM.
Supporting agencies: The study was carried out according to 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
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
E. R. Shaidurova
Siberian State Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
2, Moskovsky trakt, Tomsk, 634050
M. V. Golubenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
References
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Review
For citations:
Valiakhmetov N.R., Shaidurova E.R., Golubenko M.V. Associations of haplotypes in the sarcomeric genes with echocardiographic parameters in hypertrophic cardiomyopathy. Medical Genetics. 2025;24(10):58-60. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.58-60
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