Related Experiment Video

Updated: May 12, 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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Risk Factors and Genetic Insights into Coronary Artery Disease-Related Sudden Cardiac Death: A Molecular Analysis of

Xiangwang He1, Linfeng Li1, Dianyi Zhou1

  • 1Department of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Science, Sichuan University, Chengdu 610041, China.

International Journal of Molecular Sciences
|May 7, 2025
PubMed

Insights

Sudden cardiac death in coronary artery disease patients is linked to nocturnal timing, winter months, and specific coronary artery conditions. Genetic factors, including rare variants and polygenic risk scores, also significantly increase the risk.

Area of Science:

  • Cardiology
  • Genetics
  • Forensic Pathology

Background:

  • Sudden cardiac death (SCD) is a significant cause of mortality in patients with coronary artery disease (CAD).
  • Identifying specific risk factors for SCD in CAD patients is crucial for prevention strategies.

Purpose of the Study:

  • To identify risk factors for coronary artery disease-related sudden cardiac death (SCDCAD).
  • To investigate the role of rare genetic variants and polygenic risk scores in SCDCAD.

Main Methods:

  • Utilized autopsy data from 241 SCDCAD cases and 241 controls.
  • Performed whole-exome sequencing on myocardial tissue.
  • Applied polygenic risk score (PRS) analysis and in silico prediction of rare variant pathogenicity.

Main Results:

  • Nocturnal timing, winter season, multiple vessel occlusion, right coronary artery stenosis, and unstable plaque were identified as significant risk factors for SCDCAD.
  • A polygenic risk score was associated with a 60% increased risk of SCDCAD.
  • Genetic analysis implicated MUC19 and CGN genes in SCDCAD.

Conclusions:

  • Both hereditary and acquired factors contribute to cardiac dysfunction and SCD in CAD patients.
  • Findings facilitate the prevention and early recognition of individuals at high risk for SCDCAD.

Keywords:
coronary atherosclerosisforensic medicinegeneticssudden deathvariantwhole-exome sequencing

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