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    • Home
    • About
      • Polygenic Risk Scores
      • Pharmacogenetics
      • DNA-Microarrays
    • Analyses
      • Risk Models
      • PGx Screening
    • Science Blog
    • Resources
    • Events
    • FAQs
    • Our story
  • Home
  • About
    • Polygenic Risk Scores
    • Pharmacogenetics
    • DNA-Microarrays
  • Analyses
    • Risk Models
    • PGx Screening
  • Science Blog
  • Resources
  • Events
  • FAQs
  • Our story

A PRS FOR CORONARY ARTERY DISEASE

Coronary Artery Disease

Coronary artery disease (CAD), the most common cardiovascular disease (CVD) stands as the foremost cause of mortality worldwide, responsible for a significant number of deaths each year. This often-preventable cardiovascular condition, characterized by the narrowing or blockage of the coronary arteries due to plaque buildup, poses a substantial burden on global healthcare systems, economies, and societal well-being.

The multifactorial nature of CAD

CAD is a multifactorial disease wherein various factors contribute to its pathogenesis often complicating management. There are many known risk factors including monogenic mutations, mitochondrial dysfunction, oxidative stress, insulin resistance (IR), endothelial dysfunction, chronic inflammation, age, family history, dyslipidemia, hypertension, metabolic syndrome, obesity, prediabetes, type 2 diabetes mellites (T2DM), tobacco smoking, excessive alcohol drinking, disturbances in gut microbiota, stress, sedentary lifestyle, and pollution. 

Identifying High-risk individuals

As most CADs can be prevented by addressing behavioral risk factors (tobacco use, unhealthy diet, obesity, physical inactivity, alcohol) timely detection and identification of high-risk individuals is crucial to initiate management and counseling. Numerous risk assessment approaches are accessible, with the ASCVD Risk Estimator being predominantly utilized in the United States, relying on the 2013 ACC/AHA guidelines for cardiovascular risk assessment. In contrast, the European Society of Cardiology (ESC) advocates for the utilization of the SCORE (Systematic Coronary Risk Evaluation) risk assessment tool. Both tools are designed to calculate an individual's likelihood of experiencing a CAD event within the next 10 years.

How is high-risk defined?

An individual's 10-year risk of experiencing a fatal cardiovascular event, such as a heart attack or stroke.

The challenge lies in the fact that numerous individuals who acquire CAD remain undetected by conventional risk assessment methods. Multiple studies have shown that the combination of clinical risk factors and a PRS demonstrates significantly increased predictive value in contrast to relying solely on traditional factors. Therefore, it becomes essential to integrate PRSs into risk calculations for more accurate risk assessment.

The risk of individuals with high PRSs (e.g., individuals in the top 8% of a CAD PRS distribution) is equivalent to carriers of monogenic mutations but the prevalence of high PRS individuals is 20-fold higher.


Khera et al., 2018, PMID: 30104762

“Because monogenic carriers meet current clinical guidelines for intervention, a logical extension would be considering individuals with similar risk levels attributable to polygenic risk status.”


The American Heart Association

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