TY - JOUR
T1 - Genome-wide association studies of cardiovascular disease
AU - Walsh, Roddy
AU - Jurgens, Sean J.
AU - Erdmann, Jeanette
AU - Bezzina, Connie R.
N1 - Funding Information: C. R. Bezzina is funded by Fondation Leducq (Leducq Foundation; 17CVD02), Hartstichting (Heart Foundation; CVON PREDICT2 2018-30), and ZonMw (Netherlands Organisation for Health Research and Development) VICI Fellowship 016.150.610. Publisher Copyright: © 2023 the American Physiological Society.
PY - 2023/7/1
Y1 - 2023/7/1
N2 - Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the loci and genes underlying phenotypic traits, have highlighted genetic correlations across traits and diseases, and are beginning to demonstrate clinical utility by identifying individuals at increased risk for common diseases. GWAS have been widely utilized across cardiovascular diseases and associated phenotypic traits, with insights facilitated by multicenter registry studies and large biobank data sets. In this review, we describe how GWAS have informed the genetic architecture of cardiovascular diseases and the insights they have provided into disease pathophysiology, using archetypal conditions for both common and rare diseases. We also describe how biobank data sets can complement disease-specific studies, particularly for rarer cardiovascular diseases, and how findings from GWAS have the potential to impact on clinical care. Finally, we discuss the outstanding challenges facing research in this field and how they can be addressed.
AB - Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the loci and genes underlying phenotypic traits, have highlighted genetic correlations across traits and diseases, and are beginning to demonstrate clinical utility by identifying individuals at increased risk for common diseases. GWAS have been widely utilized across cardiovascular diseases and associated phenotypic traits, with insights facilitated by multicenter registry studies and large biobank data sets. In this review, we describe how GWAS have informed the genetic architecture of cardiovascular diseases and the insights they have provided into disease pathophysiology, using archetypal conditions for both common and rare diseases. We also describe how biobank data sets can complement disease-specific studies, particularly for rarer cardiovascular diseases, and how findings from GWAS have the potential to impact on clinical care. Finally, we discuss the outstanding challenges facing research in this field and how they can be addressed.
KW - GWAS
KW - cardiovascular disease
KW - genetics
KW - polygenic risk score
UR - http://www.scopus.com/inward/record.url?scp=85152977178&partnerID=8YFLogxK
U2 - https://doi.org/10.1152/physrev.00024.2022
DO - https://doi.org/10.1152/physrev.00024.2022
M3 - Review article
C2 - 36634218
SN - 0031-9333
VL - 103
SP - 2039
EP - 2055
JO - Physiological Reviews
JF - Physiological Reviews
IS - 3
ER -