Genetic Variants as Key Indicators of Heart Failure Risk, New Research Shows

Recent research published in Nature Genetics highlights the significance of common genetic variants in assessing an individual's risk for developing heart failure. Led by scientists from Northwestern University Feinberg School of Medicine and the Perelman School of Medicine at the University of Pennsylvania, the study demonstrates that evaluating both common and rare genetic variants can enhance risk prediction models.

The investigation involved a comprehensive meta-analysis of genome-wide association studies (GWAS), analyzing genetic data from over 207,000 individuals with heart failure and more than 2 million without the condition. This extensive analysis uncovered 176 new genetic variants potentially linked to heart failure, including coding variants in well-known cardiomyopathy genes like MYBPC3 and BAG3, as well as variants influencing lipid transport and glucose metabolism pathways.

Further gene burden analyses with data from three biobanks, comprising over 27,000 heart failure cases and 349,000 controls, identified significant associations between heart failure and rare damaging variants in genes such as TTN, MYBPC3, FLNC, and BAG3. These findings underscore the importance of considering the combined effects of common and rare variants in understanding the genetic basis of the disease.

Dr. David Lee, the lead author, emphasized that evaluating common genetic variants can identify individuals at high risk even if they lack rare high-impact mutations. This integrated approach can reveal the underlying biological pathways involved in heart failure and related conditions like diabetes, offering valuable insights for future therapy development. By understanding how these pathways are genetically altered, clinicians may improve personalized risk assessments and intervention strategies.

The study advances the field of genetic research in cardiovascular disease, suggesting that comprehensive genetic screening could play a pivotal role in early detection and targeted treatment of heart failure—ultimately improving patient outcomes.

source: https://medicalxpress.com/news/2025-05-common-genetic-variants-heart-failure.html