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What is polygenic risk score for heart disease?

NextEdge Admin

23 Jan 2024

4 min 10 sec

A polygenic risk score (PRS) in the context of heart disease is a numerical representation of an individual’s genetic susceptibility to developing heart disease, particularly coronary artery disease (CAD). Heart disease is a complex condition influenced by both genetic and environmental factors. PRS is a tool used in genetics research and personalized medicine to estimate an individual’s genetic predisposition to a particular disease.

Here’s how a polygenic risk score for heart disease typically works:

Genome-wide Association Studies (GWAS): Scientists conduct large-scale genome-wide association studies to identify specific genetic variants (single nucleotide polymorphisms or SNPs) associated with an increased risk of heart disease. These studies involve comparing the genetic profiles of individuals with and without heart disease to identify common genetic markers.
PRS Calculation: Once these genetic variants are identified, researchers assign a weighted score to each variant based on its association with heart disease. Variants that are strongly associated with the disease receive higher weights, while weaker associations receive lower weights. The PRS for an individual is calculated by summing up the weighted scores for all relevant genetic variants in that person’s DNA.
Risk Assessment: The resulting PRS is a numerical score that reflects an individual’s genetic susceptibility to heart disease. Higher PRS values indicate a higher genetic risk, while lower scores suggest a lower genetic risk.
Clinical Application: PRS can be used in clinical settings to help assess an individual’s risk of developing heart disease. When combined with other risk factors such as lifestyle, family history, and biomarkers (e.g., cholesterol levels), it can provide a more comprehensive picture of an individual’s overall risk. This information can be used for early intervention, personalized treatment plans, and lifestyle modifications to reduce the risk of heart disease.

It’s important to note that while PRS can provide valuable insights into genetic risk, it does not provide a definitive prediction of whether an individual will develop heart disease. Genetic risk is just one component of overall risk, and lifestyle factors, such as diet, exercise, and smoking habits, also play a significant role in heart disease risk.

Research in this field is ongoing, and PRS for heart disease is continually being refined and improved as more genetic data becomes available and our understanding of the genetics of heart disease advances. Additionally, genetic testing and the use of PRS in clinical practice are subject to ethical considerations and privacy concerns, so their use should be carefully considered and guided by healthcare professionals and genetic counselors.