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A genome-wide association study of imaging-defined atherosclerosis

Gummesson, Anders ; Lundmark, Per ; Chen, Qiao Sen ; Björnson, Elias ; Dekkers, Koen F. ; Hammar, Ulf ; Adiels, Martin ; Wang, Yunzhang ; Andersson, Therese and Bergström, Göran , et al. (2025) In Nature Communications 16(1).
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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Communications
volume
16
issue
1
article number
2266
publisher
Nature Publishing Group
external identifiers
  • scopus:105001450683
  • pmid:40164586
ISSN
2041-1723
DOI
10.1038/s41467-025-57457-7
language
English
LU publication?
yes
id
bbb27ac6-8dec-4b72-8a60-190ee1cae6fa
date added to LUP
2025-08-07 12:11:53
date last changed
2025-08-09 03:00:12
@article{bbb27ac6-8dec-4b72-8a60-190ee1cae6fa,
  abstract     = {{<p>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.</p>}},
  author       = {{Gummesson, Anders and Lundmark, Per and Chen, Qiao Sen and Björnson, Elias and Dekkers, Koen F. and Hammar, Ulf and Adiels, Martin and Wang, Yunzhang and Andersson, Therese and Bergström, Göran and Carlhäll, Carl Johan and Erlinge, David and Jernberg, Tomas and Landfors, Fredrik and Lind, Lars and Mannila, Maria and Melander, Olle and Pirazzi, Carlo and Sundström, Johan and Östgren, Carl Johan and Gunnarsson, Cecilia and Orho-Melander, Marju and Söderberg, Stefan and Fall, Tove and Gigante, Bruna}},
  issn         = {{2041-1723}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Communications}},
  title        = {{A genome-wide association study of imaging-defined atherosclerosis}},
  url          = {{http://dx.doi.org/10.1038/s41467-025-57457-7}},
  doi          = {{10.1038/s41467-025-57457-7}},
  volume       = {{16}},
  year         = {{2025}},
}