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Current Cardiology Reports

Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future

  • Open Access
  • 01-12-2025
  • Cardiomyopathy
  • Myocardial Disease (A Abbate and M Merlo, Section Editors)
Published in:
Authors
Daria R. Kramarenko
Sean J. Jurgens
Yigal M. Pinto
Connie R. Bezzina
Ahmad S. Amin
Published in
Current Cardiology Reports | Issue 1/2025

Abstract

Purpose of Review

Genome-wide association studies (GWASs) have recently shown that common genetic variations significantly affect the risk of developing dilated cardiomyopathy (DCM). This has enabled the development of polygenic scores (PGSs), which aim to aggregate the impact of multiple common genetic variants across the genome to provide an overall genetic risk score for disease manifestation and disease severity. In this review, we discuss the latest findings pertaining to GWASs and PGSs for DCM and various ways in which PGSs could improve the management of patients with DCM or risk of developing DCM.

Recent Findings

In 2024 the two largest GWAS meta-analyses for DCM were published. Notably, both studies produced PGSs that were able to discriminate healthy subjects from DCM patients which brings promise for potential clinical application of the scores.

Summary

Large-scale GWAS have identified common genetic variants associated with DCM, leading to the development of PGS, which show strong associations with disease risk and hold potential for clinical applications. However, before clinical implementation, further research is needed to explore their utility in real-world settings and across diverse populations.
Title
Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future
Authors
Daria R. Kramarenko
Sean J. Jurgens
Yigal M. Pinto
Connie R. Bezzina
Ahmad S. Amin
Publication date
01-12-2025
Publisher
Springer US
Keyword
Cardiomyopathy
Published in
Current Cardiology Reports / Issue 1/2025
Print ISSN: 1523-3782
Electronic ISSN: 1534-3170
DOI
https://doi.org/10.1007/s11886-025-02239-2
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This content is intended for healthcare professionals outside of the UK.

Independent Medical Education Grant:
  • Bayer HealthCare Pharmaceuticals Inc.
Learn more Link opens in a new window
Image Credits
Abstract graphic of layered, concentric circular shapes in bright green, pink, blue, and purple on a dark blue background. The rings and segments form a complex radial pattern without text/© Springer Health+ IME