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A genome-wide association study of imaging-defined atherosclerosis

Author

Listed:
  • Anders Gummesson

    (Department of Clinical Genetics and Genomics
    University of Gothenburg)

  • Per Lundmark

    (Uppsala University)

  • Qiao Sen Chen

    (Karolinska Institutet)

  • Elias Björnson

    (University of Gothenburg)

  • Koen F. Dekkers

    (Uppsala University)

  • Ulf Hammar

    (Uppsala University)

  • Martin Adiels

    (University of Gothenburg)

  • Yunzhang Wang

    (Karolinska Institutet)

  • Therese Andersson

    (Umeå University)

  • Göran Bergström

    (University of Gothenburg
    Department of Clinical Physiology)

  • Carl-Johan Carlhäll

    (Linköping University
    Linköping University
    Linköping University)

  • David Erlinge

    (Lund University)

  • Tomas Jernberg

    (Karolinska Institutet)

  • Fredrik Landfors

    (Umeå University)

  • Lars Lind

    (Uppsala University)

  • Maria Mannila

    (Karolinska University Hospital)

  • Olle Melander

    (Lund University
    Skåne University Hospital)

  • Carlo Pirazzi

    (Department of Cardiology)

  • Johan Sundström

    (Uppsala University
    University of New South Wales)

  • Carl Johan Östgren

    (Linköping University
    Linköping University)

  • Cecilia Gunnarsson

    (Linköping University)

  • Marju Orho-Melander

    (Lund University)

  • Stefan Söderberg

    (Umeå University)

  • Tove Fall

    (Uppsala University)

  • Bruna Gigante

    (Karolinska Institutet
    Karolinska University Hospital)

Abstract

Imaging-defined atherosclerosis represents an intermediate phenotype of atherosclerotic cardiovascular disease (ASCVD). Genome-wide association studies (GWAS) on directly measured coronary plaques using coronary computed tomography angiography (CCTA) are scarce. In the so far largest population-based cohort with CCTA data, we performed a GWAS on coronary plaque burden as determined by the segment involvement score (SIS) in 24,811 European individuals. We identified 20 significant independent genetic markers for SIS, three of which were found in loci not implicated in ASCVD before. Further GWAS on coronary artery calcification showed similar results to that of SIS, whereas a GWAS on ultrasound-assessed carotid plaques identified both shared and non-shared loci with SIS. In two-sample Mendelian randomization studies using SIS-associated markers in UK Biobank and CARDIoGRAMplusC4D, one extra coronary segment with atherosclerosis corresponded to 1.8-fold increased odds of myocardial infarction. This GWAS data can aid future studies of causal pathways in ASCVD.

Suggested Citation

  • Anders Gummesson & Per Lundmark & Qiao Sen Chen & Elias Björnson & Koen F. Dekkers & Ulf Hammar & Martin Adiels & Yunzhang Wang & Therese Andersson & Göran Bergström & Carl-Johan Carlhäll & David Erli, 2025. "A genome-wide association study of imaging-defined atherosclerosis," Nature Communications, Nature, vol. 16(1), pages 1-12, December.
  • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-57457-7
    DOI: 10.1038/s41467-025-57457-7
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