Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future.

Area of Science:

• Genetics
• Cardiology
• Genomic Medicine

Background:

• Genome-wide association studies (GWASs) have revealed significant associations between common genetic variations and the risk of developing dilated cardiomyopathy (DCM).
• This has led to the development of polygenic scores (PGSs) to quantify overall genetic predisposition to DCM.

Purpose of the Study:

• To review the latest findings from GWASs and PGSs for DCM.
• To explore the potential of PGSs in improving the clinical management of DCM patients and individuals at risk.

Main Methods:

• Review of recent large-scale GWAS meta-analyses for DCM published in 2024.
• Analysis of the performance of polygenic scores (PGSs) in discriminating between DCM patients and healthy individuals.

Main Results:

• The largest GWAS meta-analyses for DCM in 2024 yielded PGSs capable of differentiating DCM patients from healthy controls.
• These PGSs demonstrate strong associations with DCM risk, indicating potential for clinical utility.

Conclusions:

• Common genetic variants identified through GWASs are crucial for understanding DCM etiology.
• PGSs show promise for clinical application in DCM risk assessment and management, pending further validation in diverse populations and real-world settings.