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Updated: May 29, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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

Published on: January 16, 2019

Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour

John F Peden1, Martin Farrall

  • 1Department of Cardiovascular Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK.

Human Molecular Genetics
|August 31, 2011
PubMed

Insights

Genetic studies have identified 34 common variants associated with coronary artery disease (CAD), a leading global cause of death. Further research is needed to understand the mechanisms behind these genetic links and discover more CAD-related genes.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Genomics

Background:

  • Coronary artery disease (CAD) is the primary cause of mortality globally.
  • Familial clustering of CAD suggests a significant genetic component.
  • Previous genome-wide association studies (GWAS) have identified numerous common variants linked to CAD.

Purpose of the Study:

  • To summarize the current understanding of genetic loci associated with coronary artery disease.
  • To highlight the implications of identified variants for disease pathogenesis and risk factor mechanisms.
  • To identify future research directions for uncovering novel CAD-related genes.

Main Methods:

  • Large-scale genome-wide and gene-centric genotyping studies.
  • Analysis of tens of thousands of cases and controls.
  • Examination of allelic heterogeneity and copy number variation in common variants.
  • Utilizing quantitative trait loci associations and Mendelian randomization studies.

Main Results:

  • 34 distinct genetic loci associated with common coronary artery disease variants have been mapped.
  • Some identified loci contain candidate genes suggesting conventional or emerging risk factor pathways.
  • Common variants explain approximately 4% of inter-individual CAD risk variation and up to 13% of heritability.
  • Mechanistic links for most loci remain uncertain, indicating potential for novel research avenues.

Conclusions:

  • Genetic factors play a substantial role in coronary artery disease susceptibility.
  • Current common variants explain a small proportion of CAD heritability, suggesting many genes remain undiscovered.
  • Future large-scale GWAS and resequencing studies are expected to identify additional common and rare variants contributing to CAD risk.

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