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Published on: September 26, 2018

Clinical utility of polygenic risk scores in cardiovascular disorders

Heribert Schunkert1, Ling Li1, Teresa Trenkwalder1

  • 1TUM University Hospital Department of Cardiology Lazarettstr. 36 80636 Munich Germany.

Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|July 8, 2026
PubMed

Insights

Polygenic risk scores (PRS) can improve cardiovascular disease (CVD) risk prediction by assessing inherited susceptibility. This review explores PRS utility, construction, and clinical applications for major CVDs, identifying knowledge gaps for implementation.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Preventive Cardiology

Background:

  • Cardiovascular diseases (CVD) pose significant health risks, necessitating enhanced prediction and prevention.
  • Current clinical risk scores can be augmented by genetic information.
  • Polygenic risk scores (PRS) offer a way to quantify inherited susceptibility to diseases.

Purpose of the Study:

  • To review the current understanding and application of PRS in cardiovascular disease.
  • To discuss methodologies for PRS construction and clinical utility across various CVDs.
  • To identify challenges and knowledge gaps hindering PRS clinical implementation.

Main Methods:

  • Literature review of studies on PRS in cardiovascular disease.
  • Discussion of PRS construction methodologies.
  • Analysis of clinical scenarios and potential applications of PRS for major CVDs.

Main Results:

  • PRS can enhance risk stratification beyond traditional factors for conditions like coronary artery disease, aortic aneurysms, cardiomyopathies, atrial fibrillation, and hypertension.
  • The utility of PRS varies, serving as both a diagnostic tool and a research instrument.
  • Methodological strategies for PRS construction are evolving.

Conclusions:

  • PRS holds significant potential to personalize cardiovascular disease prevention and improve risk prediction.
  • Further research is needed to address knowledge gaps and facilitate widespread clinical implementation of PRS.
  • PRS can provide insights into the complex etiologies of cardiovascular diseases.

Keywords:
atrial fibrillationcardiomyopathycoronary artery diseaseheart failurepolygenic risk score

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