Genome Studies Identify Heart Disease Risk

Overview of Heart Disease

Heart disease, known as coronary artery disease, represents the leading cause of morbidity and mortality globally. While family history is a recognized risk factor, advancements in genome sequencing technology have enabled researchers to uncover links between genetic variants and traits within populations.

Development of the Genomic Risk Score

A collaborative team from the United Kingdom and Australia has introduced a Genomic Risk Score (GRS) aimed at identifying individuals at elevated risk for heart attack and heart disease due to genetic factors. This significant study was published in the Journal of the American College of Cardiology.

Study Methodology

The researchers analyzed genomic data from nearly 500,000 individuals aged between 40 and 69, sourced from the UK Biobank study. At the outset, comprehensive socioeconomic, health, and medical information was collected. The genomic data enabled the identification of genetic variants correlated with heart disease.

To determine an individual’s genetic risk for heart disease, researchers utilized approximately 1.7 million genetic variants present in their DNA, generating a Genomic Risk Score. Findings indicated that individuals in the top 20% of risk scores were over four times more likely to develop heart disease compared to those in the bottom 20%.

Future Implications of the Genomic Risk Score

The researchers aim for the Genomic Risk Score tool to facilitate the early identification of individuals at high risk for heart disease. Traditionally, risk evaluations begin in a person’s forties. However, since DNA remains unchanged throughout life, the Genomic Risk Score can be assessed at any age, including childhood. Early identification of high-risk individuals is crucial for effective prevention strategies. This tool provides a cost-effective method for pinpointing patients who would benefit the most from early interventions for heart disease.

References

Inouye M, Abraham G, Nelson CP, et al. Genomic risk prediction of coronary artery disease in 480,000 adults. Implications for primary prevention. 2018. J Am Coll Cardiol. 72:16:1884-1893.
Genetic tool to predict adult heart attack risk in childhood. https://www.eurekalert.org/pub_releases/2018-10/bhf-gtt100718.php

Written by Cindi A. Hoover, Ph.D.