Affiliations 

  • 1 Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan
  • 2 National Heart Centre and SingHealth Duke-NUS Cardiovascular Sciences, Singapore
  • 3 State Key Laboratory of Cardiovascular Disease, FuWai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China
  • 4 Department of Medicine, University of Hong Kong, Hong Kong
  • 5 Kitasato University, Sagamihara, Japan
  • 6 Division of Cardiology, Department of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
  • 7 South Australian Health and Medical Research Institute and Flinders University, Adelaide, South Australia, Australia
  • 8 Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea
  • 9 Kokilaben Hospital, Mumbai, India
  • 10 Department of Cardiology, Sarawak Heart Centre, and Clinical Research Centre, Sarawak General Hospital, Kuching, Malaysia
  • 11 National Cheng Kung University Hospital, Tainan, Taiwan
  • 12 University of Melbourne and Austin Health, Melbourne, Victoria, Australia
  • 13 South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia
  • 14 Singapore Heart Foundation, Singapore
  • 15 Victorian Heart Institute, Monash University, Melbourne, Victoria, Australia
JACC Asia, 2021 Dec;1(3):294-302.
PMID: 36341217 DOI: 10.1016/j.jacasi.2021.08.008

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.