A genome-wide association study of imaging-defined atherosclerosis

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 Erlinge, Tomas Jernberg, Fredrik Landfors, Lars Lind, Maria Mannila, Olle Melander, Carlo Pirazzi, Johan Sundström, Carl Johan Östgren, Cecilia Gunnarsson, Marju Orho-Melander, Stefan Söderberg, Tove Fall and Bruna Gigante
Additional contact information
Anders Gummesson: Department of Clinical Genetics and Genomics
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
Carl-Johan Carlhäll: 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
Carlo Pirazzi: Department of Cardiology
Johan Sundström: Uppsala University
Carl Johan Östgren: Linköping University
Cecilia Gunnarsson: Linköping University
Marju Orho-Melander: Lund University
Stefan Söderberg: Umeå University
Tove Fall: Uppsala University
Bruna Gigante: Karolinska Institutet

Nature Communications, 2025, vol. 16, issue 1, 1-12

Abstract: 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.

Date: 2025
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DOI: 10.1038/s41467-025-57457-7

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