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Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy

Elena V Filatova1, Natalia S Krylova2, Ivan N Vlasov1

  • 1Institute of Molecular Genetics of National Research Centre, Moscow, Russia.

Molecular Genetics & Genomic Medicine
|October 1, 2021
PubMed

Insights

Genetic variants in hypertrophic cardiomyopathy (HCM) were investigated in Russian patients. Pathogenic variants were found in 8% of cases, with lower prevalence than in European populations, suggesting ethnic or novel genetic factors.

Area of Science:

  • Cardiovascular Genetics
  • Human Genetics
  • Molecular Cardiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent, autosomal dominant heritable cardiovascular disease.
  • Genetic underpinnings remain unidentified in at least 25% of HCM patients.
  • The spectrum of pathogenic variants in the Russian population is not well-characterized.

Purpose of the Study:

  • To identify genetic variants associated with the etiopathogenesis of HCM in Russian patients.
  • To investigate the spectrum of pathogenic variants in HCM-related genes within the Russian population.

Main Methods:

  • Targeted exome sequencing was performed on 98 unrelated adult HCM patients.
  • Bioinformatic analyses predicted variant impact on protein structure.
  • Variant pathogenicity was assessed using ACMG Guidelines.

Main Results:

  • Pathogenic and likely pathogenic variants in HCM-related genes were identified in 8% of the study cohort.
  • Twenty variants of uncertain significance were also detected in HCM-related genes.
  • The frequency of specific pathogenic variants appears lower in the Russian population compared to European populations.

Conclusions:

  • Ethnic-specific features of the Russian population may influence pathogenic variant prevalence in HCM.
  • Age characteristics of the sample or novel, unlinked genes could contribute to unexplained HCM cases.
  • Further research is needed to fully elucidate the genetic landscape of HCM in Russia.
Abstract

Keywords:
exomegeneticshypertrophic cardiomyopathynext generation sequencingpathogenic variants

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