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Title: Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in the Asia-Pacific Region.
Austin Authors: Tada, Hayato;Yeo, Khung Keong;Li, Jian-Jun;Tan, Kathryn;Ako, Junya;Krittayaphong, Rungroj;San Tan, Ru;Aylward, Philip E;Lam, Carolyn S P;Baek, Sang Hong;Dalal, Jamshed;Fong, Alan;Li, Yi-Heng;O'Brien, Richard C ;Natalie Koh, Si Ya;Scherer, Daniel J;Kang, Vernon;Nelson, Adam J;Butters, Julie;Nicholls, Stephen J
Affiliation: Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.
National Heart Centre and SingHealth Duke-NUS Cardiovascular Sciences, Singapore.
State Key Laboratory of Cardiovascular Disease, FuWai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Department of Medicine, University of Hong Kong, Hong Kong.
Kitasato University, Sagamihara, Japan.
Division of Cardiology, Department of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
National Heart Centre and SingHealth Duke-NUS Cardiovascular Sciences, Singapore.
South Australian Health and Medical Research Institute and Flinders University, Adelaide, South Australia, Australia.
National Heart Centre and SingHealth Duke-NUS Cardiovascular Sciences, Singapore.
Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Kokilaben Hospital, Mumbai, India.
Department of Cardiology, Sarawak Heart Centre, and Clinical Research Centre, Sarawak General Hospital, Kuching, Malaysia.
National Cheng Kung University Hospital, Tainan, Taiwan.
University of Melbourne Clinical School
National Heart Centre and SingHealth Duke-NUS Cardiovascular Sciences, Singapore.
South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
Singapore Heart Foundation, Singapore.
Victorian Heart Institute, Monash University, Melbourne, Victoria, Australia.
Issue Date: Dec-2021
Date: 2021
Publication information: JACC. Asia 2021; 1(3):294-302
Abstract: Approximately one-half of the phenotypic susceptibility to atherosclerotic cardiovascular disease (ASCVD) has a genetic basis. Although individual allelic variants generally impart a small effect on risk for ASCVD, an emerging body of data has shown that the aggregation and weighting of many of these genetic variations into "scores" can further discriminate an individual's risk beyond traditional risk factors alone. Consistent with the theory of population genetics, such polygenic risk scores (PRS) appear to be ethnicity specific because their elements comprise single-nucleotide variants that are always ethnicity specific. The currently available PRS are derived predominantly from European ancestry and thus predictably perform less well among non-European participants, a fact that has implications for their use in the Asia-Pacific region. This paper describes the current state of knowledge of PRS, the available data that support their use in this region, and highlights the needs moving forward to safely and effectively implement them in clinical care in the Asia-Pacific region.
DOI: 10.1016/j.jacasi.2021.08.008
Journal: JACC. Asia
Start page: 294
End page: 302
PubMed URL: 36341217
ISSN: 2772-3747
Type: Journal Article
Subjects: ASCVD, atherosclerotic cardiovascular disease
FH, familial hypercholesterolemia
GWAS, genome-wide association studies
LDL, low-density lipoprotein
PRS, polygenic risk score(s)
SNV, single-nucleotide variant
cardiovascular disease
polygenic risk score
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