Scientists utilized deep learning and magnetic resonance imaging to analyze aortic valve function in nearly 60,000 participants from the UK Biobank. By measuring specific physical traits like peak velocity and aortic valve area, researchers identified 166 unique genetic loci linked to valve performance and the risk of aortic stenosis. The study discovered that many of the same genes influencing healthy valve function also drive the development of disease. Mendelian randomization further suggested that high levels of lipoproteins and blood pressure play a causal role in valve degradation. These findings highlight lipid-lowering strategies and hypertension management as critical pathways for preventing the narrowing of the aortic valve. Additionally, the development of a polygenic score allowed for the successful prediction of future heart complications in diverse external patient groups.

References:

• Kany S, Rämö J T, Hou C, et al. Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk[J]. Nature Genetics, 2025: 1-10.