The prevalence of mutations in the MYBPC3 gene in Russian patients with hypertrophic cardiomyopathy

Introduction. Hypertrophic cardiomyopathy (HCM) is considered the most common hereditary heart disease. HCM is a highly heterogeneous disease from a genetic point of view. However, despite the large number of identified pathogenic variants, the cause of the disease remains unclear in more than a quarter of patients. Therefore, it is still relevant to study the prevalence of pathogenic variants leading to the development of HCM, especially in the Russian population. In this regard, the aim of this work was to assess the contribution of pathogenic variants rs200411226 and rs397515905 in the MYBPC3 gene, leading to the substitutions R495Q, R495W, and R495G, to the development of HCM in the Russian population. Material and methods. The sample included 224 patients with HCM of varying severity. The genotypes of the rs200411226 (NM_000256.3:c.1484G>A) and rs397515905 (NM_000256.3:c.1483C>T/G) variants in the MYBPC3 gene (R495Q, R495W, and R495G) were analyzed using real-time PCR for all patients. Results and discussion. The analysis of the prevalence of these pathogenic variants carried out in this work has shown that the R495Q and R495W mutations in our sample occur with a frequency of 0.4% for each mutation, which is generally comparable with the frequencies of these pathogenic variants in other populations. In addition, R495Q and R495W mutations do not appear to lead to severe disease. Conclusion. We failed to identify the pathogenic R495G variant in our sample of patients with HCM. Thus, these mutations by themselves do not significantly contribute to the development of HCM in the Russian population.