Related Experiment Video

Updated: May 24, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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[Role of genetics in precision medicine of coronary artery disease]

V Sanin1,2, R S Schmieder1, W Koenig1,2

  • 1Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Universitätsklinikum der Technischen Universität München, Lazarettstr. 36, 80636, München, Deutschland.

Herz
|February 28, 2025
PubMed

Insights

Coronary artery disease (CAD) has genetic and lifestyle risk factors. Genetic diagnostics and polygenic risk scores (PRS) aid in early identification and personalized prevention strategies for CAD.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Preventive Cardiology

Context:

  • Coronary artery disease (CAD) is a multifactorial condition influenced by genetic and lifestyle factors.
  • Modifiable risk factors include smoking, hypertension, hyperlipidemia, obesity, and diabetes mellitus.
  • Heritability of CAD is approximately 50%, with contributions from rare mutations and common variants.

Purpose:

  • To discuss the diagnostic principles of rare and frequent genetic causes of CAD.
  • To explore the implications of genetic factors in the precision treatment of CAD.
  • To highlight the role of genetic diagnostics and polygenic risk scores (PRS) in risk assessment and prevention.

Summary:

  • Genome-wide association studies have identified numerous genetic variants associated with increased CAD risk.
  • Polygenic risk scores (PRS) integrate common genetic variants to quantify an individual's genetic predisposition to CAD.
  • An integrative risk assessment combines genetic risk (PRS) with clinical risk factors for personalized preventive strategies.

Impact:

  • Genetic diagnostics enable early identification of individuals at high cardiovascular risk.
  • Precision treatment strategies can be tailored based on an individual's genetic profile and risk factors.
  • Understanding genetic predisposition enhances the effectiveness of preventive interventions for CAD.

Keywords:
Coronary sclerosisFamilial hypercholesterolemiaGeneticsPolygenic risk scoreScreening

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