KLI

Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls

Metadata Downloads
Abstract
Background

The polygenic risk score (PRS) developed for coronary artery disease (CAD) is known to be effective for classifying patients with CAD and predicting subsequent events. However, the PRS was developed mainly based on the analysis of Caucasian genomes and has not been validated for East Asians. We aimed to evaluate the PRS in the genomes of Korean early-onset AMI patients (n = 265, age <= 50 years) following PCI and controls (n = 636) to examine whether the PRS improves risk prediction beyond conventional risk factors.

Results

The odds ratio of the PRS was 1.83 (95% confidence interval [CI]: 1.69-1.99) for early-onset AMI patients compared with the controls. For the classification of patients, the area under the curve (AUC) for the combined model with the six conventional risk factors (diabetes mellitus, family history of CAD, hypertension, body mass index, hypercholesterolemia, and current smoking) and PRS was 0.92 (95% CI: 0.90-0.94) while that for the six conventional risk factors was 0.91 (95% CI: 0.85-0.93). Although the AUC for PRS alone was 0.65 (95% CI: 0.61-0.69), adding the PRS to the six conventional risk factors significantly improved the accuracy of the prediction model (P = 0.015). Patients with the upper 50% of PRS showed a higher frequency of repeat revascularization (hazard ratio = 2.19, 95% CI: 1.47-3.26) than the others.

Conclusions

The PRS using 265 early-onset AMI genomes showed improvement in the identification of patients in the Korean population and showed potential for genomic screening in early life to complement conventional risk prediction.
Author(s)
박영준전연수전성원윤창한김민Asta Blazyte김연경강용희김창재이상엽Byoung-Chul KimByung Chul KimJang-Whan BaeJong BhakJungae ShimNayeong KimSemin LeeSung ChunWeon KimYeo Jin Kim신은석
Issued Date
2021
Type
Article
Keyword
AdultFemaleGenetic Predisposition to Disease / geneticsGenomeHuman / genetics*Genome-Wide Association StudyHumansMaleMiddle AgedMyocardial Infarction / genetics*Myocardial Infarction / therapy*Percutaneous Coronary InterventionProportional Hazards ModelsRepublic of KoreaRisk Factors
DOI
10.1371/journal.pone.0246538
URI
https://oak.ulsan.ac.kr/handle/2021.oak/7935
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_plos_journals_2486455830&amp;context=PC&amp;vid=ULSAN&amp;lang=ko_KR&amp;search_scope=default_scope&amp;adaptor=primo_central_multiple_fe&amp;tab=default_tab&amp;query=any,contains,Polygenic%20risk%20score%20validation%20using%20Korean%20genomes%20of%20265%20early-onset%20acute%20myocardial%20infarction%20patients%20and%20636%20healthy%20controls&amp;offset=0&amp;pcAvailability=true
Publisher
PLOS ONE
Location
미국
Language
영어
ISSN
1932-6203
Citation Volume
16
Citation Number
2
Citation Start Page
0246538
Citation End Page
0246538
Appears in Collections:
Medicine > Medicine
공개 및 라이선스
  • 공개 구분공개
파일 목록
  • 관련 파일이 존재하지 않습니다.

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.