TY - JOUR
T1 - GWAS breakthroughs
T2 - mapping the journey from one locus to 393 significant coronary artery disease associations
AU - Aherrahrou, Rédouane
AU - Reinberger, Tobias
AU - Hashmi, Satwat
AU - Erdmann, Jeanette
N1 - Publisher Copyright:
© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved. For commercial re-use, please contact [email protected] for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact
PY - 2024/11/5
Y1 - 2024/11/5
N2 - Coronary artery disease (CAD) poses a substantial threat to global health, leading to significant morbidity and mortality worldwide. It has a significant genetic component that has been studied through genome-wide association studies (GWAS) over the past 17 years. These studies have made progress with larger sample sizes, diverse ancestral backgrounds, and the discovery of multiple genomic regions related to CAD risk. In this review, we provide a comprehensive overview of CAD GWAS, including information about the genetic makeup of the disease and the importance of ethnic diversity in these studies. We also discuss challenges of identifying causal genes and variants within GWAS loci with a focus on non-coding regions. Additionally, we highlight tissues and cell types relevant to CAD, and discuss clinical implications of GWAS findings including polygenic risk scores, sex-specific differences in CAD genetics, ethnical aspects of personalized interventions, and GWAS guided drug development.
AB - Coronary artery disease (CAD) poses a substantial threat to global health, leading to significant morbidity and mortality worldwide. It has a significant genetic component that has been studied through genome-wide association studies (GWAS) over the past 17 years. These studies have made progress with larger sample sizes, diverse ancestral backgrounds, and the discovery of multiple genomic regions related to CAD risk. In this review, we provide a comprehensive overview of CAD GWAS, including information about the genetic makeup of the disease and the importance of ethnic diversity in these studies. We also discuss challenges of identifying causal genes and variants within GWAS loci with a focus on non-coding regions. Additionally, we highlight tissues and cell types relevant to CAD, and discuss clinical implications of GWAS findings including polygenic risk scores, sex-specific differences in CAD genetics, ethnical aspects of personalized interventions, and GWAS guided drug development.
KW - Atherosclerosis
KW - Coronary artery disease
KW - Genetics
KW - Genome-wide association studies
KW - Post-GWAS
UR - http://www.scopus.com/inward/record.url?scp=85208602098&partnerID=8YFLogxK
U2 - 10.1093/cvr/cvae161
DO - 10.1093/cvr/cvae161
M3 - Review article
C2 - 39073758
AN - SCOPUS:85208602098
SN - 0008-6363
VL - 120
SP - 1508
EP - 1530
JO - Cardiovascular Research
JF - Cardiovascular Research
IS - 13
ER -