Unveiling Genetic Variants: Resting Heart Rate and Cardiovascular Disease Risk

In a groundbreaking discovery, scientists have unearthed more than 60 previously unknown genetic variations intricately linked to resting heart rate, shedding light on a concealed connection to heightened susceptibility to cardiovascular disease. This momentous revelation was recently unveiled in a publication within the prestigious journal Nature Communications.

The Significance of the Study

“This represents the most extensive study of its kind to date. Beyond merely augmenting the roster of variants correlated with heart rate, our research establishes robust causative connections between heart rate and cardiovascular well-being,” affirmed Dr. Marilyn Cornelis, an esteemed associate professor of Preventive Medicine specializing in the Division of Nutrition, and a co-author of this monumental study.

Understanding Resting Heart Rate

Related Posts

For adults, a typical resting heart rate ranges from 60 to 100 beats per minute, as stipulated by the American Heart Association. Any measure exceeding this threshold is ominously associated with an elevated risk of cardiovascular maladies and premature mortality.

The Research Methodology

This comprehensive investigation aimed to pinpoint novel genetic variations intertwined with resting heart rate by conducting a far-reaching genome-wide meta-analysis, incorporating data from a staggering 100 genetic studies, encompassing a remarkable cohort of more than 835,000 individuals.

Unveiling the Findings

This meticulous scrutiny unveiled a staggering 493 distinct genetic variants nestled within 352 genomic loci, with an astonishing 68 of them heretofore uncharted in their association with resting heart rate. Of particular note, cardiovascular tissues emerged as the predominant bastions for these genetic variants tied to resting heart rate, with their peak expression observed in cardiomyocytes—the specialized muscle cells within the heart responsible for its rhythmic contractions.

Implications of the Study

Furthermore, supplementary genetic investigations disclosed that individuals with a genetically predisposed higher resting heart rate exhibit an elevated risk of dilated cardiomyopathy—an affliction characterized by the dilatation of the heart’s left ventricle, leading to diminished blood-pumping efficiency. Strikingly, this genetic predisposition concurrently diminishes the risk of developing atrial fibrillation (an irregular heartbeat), ischemic stroke, and cardioembolic stroke.

No Link to Mortality

However, the researchers underscored a crucial finding: there was no discernible correlation between resting heart rate and the risk of mortality.


In summation, these revelatory discoveries significantly advance our comprehension of the intricate interplay between genetic variances and resting heart rate, shedding light on its pivotal role in the realm of cardiovascular disease. These insights hold immense potential for shaping future patient care and refining treatment strategies, as articulated by the authors.