Deep learning-derived cardiovascular age shares a genetic basis with other cardiac phenotypes.

Journal: Scientific reports
Published Date:

Abstract

Artificial intelligence (AI)-based approaches can now use electrocardiograms (ECGs) to provide expert-level performance in detecting heart abnormalities and diagnosing disease. Additionally, patient age predicted from ECGs by AI models has shown great potential as a biomarker for cardiovascular age, where recent work has found its deviation from chronological age ("delta age") to be associated with mortality and co-morbidities. However, despite being crucial for understanding underlying individual risk, the genetic underpinning of delta age is unknown. In this work we performed a genome-wide association study using UK Biobank data (n=34,432) and identified eight loci associated with delta age ([Formula: see text]), including genes linked to cardiovascular disease (CVD) (e.g. SCN5A) and (heart) muscle development (e.g. TTN). Our results indicate that the genetic basis of cardiovascular ageing is predominantly determined by genes directly involved with the cardiovascular system rather than those connected to more general mechanisms of ageing. Our insights inform the epidemiology of CVD, with implications for preventative and precision medicine.

Authors

  • Julian Libiseller-Egger
    Faculty of Infectious and Tropical Diseases, London School of Hygiene & Tropical Medicine, London, UK.
  • Jody E Phelan
    Faculty of Infectious and Tropical Diseases, London School of Hygiene & Tropical Medicine, London, UK.
  • Zachi I Attia
    Department of Cardiovascular Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
  • Ernest Diez Benavente
    Department of Infection Biology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK; Department of Experimental Cardiology, University Medical Center Utrecht, Netherlands.
  • Susana Campino
    London School of Hygiene & Tropical Medicine, Keppel Street, London, WC1E 7HT, UK.
  • Paul A Friedman
    Department of Cardiovascular Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
  • Francisco Lopez-Jimenez
    Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • David A Leon
    Department of Community Medicine, UiT The Arctic University of Norway, Tromsø 9037, Norway; Department of Non-communicable Diseases Epidemiology, Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London WC1E 7HT, UK; International Laboratory for Population and Health, National Research University, Higher School of Economics, Moscow, Russia.
  • Taane G Clark
    Department of Infection Biology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK; Department of Infectious Disease Epidemiology, London School of Hygiene & Tropical Medicine, London WC1E 7HT, UK.