Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls.
<h4>Background</h4>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 val...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2021-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0246538 |
| _version_ | 1819292484506746880 |
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| author | Youngjune Bhak Yeonsu Jeon Sungwon Jeon Changhan Yoon Min Kim Asta Blazyte Yeonkyung Kim Younghui Kang Changjae Kim Sang Yeub Lee Jang-Whan Bae Weon Kim Yeo Jin Kim Jungae Shim Nayeong Kim Sung Chun Byoung-Chul Kim Byung Chul Kim Semin Lee Jong Bhak Eun-Seok Shin |
| author_facet | Youngjune Bhak Yeonsu Jeon Sungwon Jeon Changhan Yoon Min Kim Asta Blazyte Yeonkyung Kim Younghui Kang Changjae Kim Sang Yeub Lee Jang-Whan Bae Weon Kim Yeo Jin Kim Jungae Shim Nayeong Kim Sung Chun Byoung-Chul Kim Byung Chul Kim Semin Lee Jong Bhak Eun-Seok Shin |
| author_sort | Youngjune Bhak |
| collection | DOAJ |
| description | <h4>Background</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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. |
| first_indexed | 2024-12-24T03:55:16Z |
| format | Article |
| id | doaj.art-c70a8615d6164be2a7cd7c9debadc62a |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-24T03:55:16Z |
| publishDate | 2021-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-c70a8615d6164be2a7cd7c9debadc62a2022-12-21T17:16:28ZengPublic Library of Science (PLoS)PLoS ONE1932-62032021-01-01162e024653810.1371/journal.pone.0246538Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls.Youngjune BhakYeonsu JeonSungwon JeonChanghan YoonMin KimAsta BlazyteYeonkyung KimYounghui KangChangjae KimSang Yeub LeeJang-Whan BaeWeon KimYeo Jin KimJungae ShimNayeong KimSung ChunByoung-Chul KimByung Chul KimSemin LeeJong BhakEun-Seok Shin<h4>Background</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.https://doi.org/10.1371/journal.pone.0246538 |
| spellingShingle | Youngjune Bhak Yeonsu Jeon Sungwon Jeon Changhan Yoon Min Kim Asta Blazyte Yeonkyung Kim Younghui Kang Changjae Kim Sang Yeub Lee Jang-Whan Bae Weon Kim Yeo Jin Kim Jungae Shim Nayeong Kim Sung Chun Byoung-Chul Kim Byung Chul Kim Semin Lee Jong Bhak Eun-Seok Shin Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls. PLoS ONE |
| title | Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls. |
| title_full | Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls. |
| title_fullStr | Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls. |
| title_full_unstemmed | Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls. |
| title_short | Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls. |
| title_sort | polygenic risk score validation using korean genomes of 265 early onset acute myocardial infarction patients and 636 healthy controls |
| url | https://doi.org/10.1371/journal.pone.0246538 |
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