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Cardiomyopathy in Asian Cohorts: Genetic and Epigenetic Insights

Konstanze Tan1, Roger Foo2,3, Marie Loh1,4,5,6

  • 1Lee Kong Chian School of Medicine, Nanyang Technological University, Clinical Sciences Building, Singapore (K.T., M.L.).

Circulation. Genomic and Precision Medicine
|August 17, 2023
PubMed

Insights

Cardiomyopathy prevalence is rising in Asia, unlike in Western nations. Research highlights unique genetic factors and epigenetic mechanisms in Asian populations, crucial for improving diagnosis and treatment.

Area of Science:

  • Cardiology
  • Genetics
  • Epigenetics

Background:

  • Cardiomyopathies are a significant cause of heart failure, with notable differences in Asian populations compared to Western cohorts.
  • There is an increasing prevalence of cardiomyopathies in Asia, contrasting with a decline observed in Western countries.
  • Understanding these disparities is vital for addressing heart failure in Asia.

Purpose of the Study:

  • To review the unique genetic and epigenetic factors contributing to cardiomyopathies in Asian populations.
  • To highlight the need for ancestry-specific research in understanding cardiomyopathy pathophysiology and improving risk stratification.
  • To emphasize the potential of multiomics approaches in Asian cardiomyopathy research.

Main Methods:

  • Review of existing literature on cardiomyopathies, focusing on genetic and epigenetic studies in Asian populations.
  • Analysis of disparities in cardiomyopathy incidence, clinical characteristics, and prognosis between Asian and White cohorts.
  • Discussion of findings from DNA methylation and multiomics studies relevant to Asian cardiomyopathy.

Main Results:

  • Asian cardiomyopathy patients exhibit a distinct genetic landscape, including a higher burden of variants of uncertain significance and novel Asian-specific loci.
  • Evidence suggests that conventional classification criteria may underestimate the pathogenicity of variants in Asian populations.
  • Epigenetic studies, particularly DNA methylation, offer insights into phenotypic variability and disease mechanisms.

Conclusions:

  • Cardiomyopathies in Asia present unique genetic and epigenetic challenges that require dedicated research.
  • Future multiomics studies incorporating genetic, methylation, and transcriptomic data are essential for developing Asian ancestry-specific insights.
  • Improved risk stratification and targeted therapies for Asian cardiomyopathy patients can be achieved through ancestry-focused research.

Keywords:
AsiaDNA methylationcardiomyopathiesheart failureprevalence

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