Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease

被引:5
|
作者
King, Austin [1 ]
Wu, Lang [2 ]
Deng, Hong-Wen [3 ]
Shen, Hui [3 ]
Wu, Chong [4 ]
机构
[1] Florida State Univ, Dept Stat, Tallahassee, FL 32306 USA
[2] Univ Hawaii, Univ Hawaii Manoa, Canc Epidemiol Div, Populat Sci Pacific Program,Canc Ctr, Honolulu, HI USA
[3] Tulane Univ, Dept Global Biostat & Data Sci, Ctr Bioinformat & Genom, New Orleans, LA 70118 USA
[4] Univ Texas MD Anderson Canc Ctr, Dept Biostat, Houston, TX 77030 USA
基金
美国国家卫生研究院;
关键词
Pooled cohort equations; Integrated polygenic risk score; Genomic risk prediction; CARDIOVASCULAR-DISEASE; PREDICTIVE ACCURACY; RECLASSIFICATION; METAANALYSIS; VALIDATION; FRAMEWORK; COMMON;
D O I
10.1186/s12916-022-02583-y
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background The value of polygenic risk scores (PRSs) towards improving guideline-recommended clinical risk models for coronary artery disease (CAD) prediction is controversial. Here we examine whether an integrated polygenic risk score improves the prediction of CAD beyond pooled cohort equations. Methods An observation study of 291,305 unrelated White British UK Biobank participants enrolled from 2006 to 2010 was conducted. A case-control sample of 9499 prevalent CAD cases and an equal number of randomly selected controls was used for tuning and integrating of the polygenic risk scores. A separate cohort of 272,307 individuals (with follow-up to 2020) was used to examine the risk prediction performance of pooled cohort equations, integrated polygenic risk score, and PRS-enhanced pooled cohort equation for incident CAD cases. The performance of each model was analyzed by discrimination and risk reclassification using a 7.5% threshold. Results In the cohort of 272,307 individuals (mean age, 56.7 years) used to analyze predictive accuracy, there were 7036 incident CAD cases over a 12-year follow-up period. Model discrimination was tested for integrated polygenic risk score, pooled cohort equation, and PRS-enhanced pooled cohort equation with reported C-statistics of 0.640 (95% CI, 0.634-0.646), 0.718 (95% CI, 0.713-0.723), and 0.753 (95% CI, 0.748-0.758), respectively. Risk reclassification for the addition of the integrated polygenic risk score to the pooled cohort equation at a 7.5% risk threshold resulted in a net reclassification improvement of 0.117 (95% CI, 0.102 to 0.129) for cases and - 0.023 (95% CI, - 0.025 to - 0.022) for noncases [overall: 0.093 (95% CI, 0.08 to 0.104)]. For incident CAD cases, this represented 14.2% correctly reclassified to the higher-risk category and 2.6% incorrectly reclassified to the lower-risk category. Conclusions Addition of the integrated polygenic risk score for CAD to the pooled cohort questions improves the predictive accuracy for incident CAD and clinical risk classification in the White British from the UK Biobank. These findings suggest that an integrated polygenic risk score may enhance CAD risk prediction and screening in the White British population.
引用
收藏
页数:14
相关论文
共 50 条
  • [1] Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease
    Austin King
    Lang Wu
    Hong-Wen Deng
    Hui Shen
    Chong Wu
    [J]. BMC Medicine, 20
  • [2] Predictive Accuracy of a Polygenic Risk Score-Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease
    Elliott, Joshua
    Bodinier, Barbara
    Bond, Tom A.
    Chadeau-Hyam, Marc
    Evangelou, Evangelos
    Moons, Karel G. M.
    Dehghan, Abbas
    Muller, David C.
    Elliott, Paul
    Tzoulaki, Ioanna
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2020, 323 (07): : 636 - 645
  • [3] Modification of coronary artery disease clinical risk factors by coronary artery disease polygenic risk score
    Truong, Buu
    Ruan, Yunfeng
    Haidermota, Sara
    Patel, Aniruddh
    Surakka, Ida
    Hornsby, Whitney
    Koyama, Satoshi
    Lee, S. Hong
    Natarajan, Pradeep
    [J]. MED, 2024, 5 (05):
  • [4] Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease
    Mosley, Jonathan D.
    Gupta, Deepak K.
    Tan, Jingyi
    Yao, Jie
    Wells, Quinn S.
    Shaffer, Christian M.
    Kundu, Suman
    Robinson-Cohen, Cassianne
    Psaty, Bruce M.
    Rich, Stephen S.
    Post, Wendy S.
    Guo, Xiuqing
    Rotter, Jerome, I
    Roden, Dan M.
    Gerszten, Robert E.
    Wang, Thomas J.
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2020, 323 (07): : 627 - 635
  • [5] A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
    Patel, Aniruddh P.
    Wang, Minxian
    Ruan, Yunfeng
    Koyama, Satoshi
    Clarke, Shoa L.
    Yang, Xiong
    Tcheandjieu, Catherine
    Agrawal, Saaket
    Fahed, Akl C.
    Ellinor, Patrick T.
    Tsao, Philip
    Sun, Yan, V
    Cho, Kelly
    Wilson, Peter W. F. L.
    Assimes, Themistocles L.
    van Heel, David A.
    Butterworth, Adam S.
    Aragam, Krishna G.
    Natarajan, Pradeep
    Khera, Amit V.
    [J]. NATURE MEDICINE, 2023, 29 (07) : 1793 - +
  • [6] A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
    Aniruddh P. Patel
    Minxian Wang
    Yunfeng Ruan
    Satoshi Koyama
    Shoa L. Clarke
    Xiong Yang
    Catherine Tcheandjieu
    Saaket Agrawal
    Akl C. Fahed
    Patrick T. Ellinor
    Philip S. Tsao
    Yan V. Sun
    Kelly Cho
    Peter W. F. Wilson
    Themistocles L. Assimes
    David A. van Heel
    Adam S. Butterworth
    Krishna G. Aragam
    Pradeep Natarajan
    Amit V. Khera
    [J]. Nature Medicine, 2023, 29 (7) : 1793 - 1803
  • [7] Coronary Artery Calcium Score and Polygenic Risk Score for the Prediction of Coronary Heart Disease Events
    Khan, Sadiya S.
    Post, Wendy S.
    Guo, Xiuqing
    Tan, Jingyi
    Zhu, Fang
    Bos, Daniel
    Sedaghati-Khayat, Bahar
    van Rooij, Jeroen
    Aday, Aaron
    Allen, Norrina B.
    Bos, Maxime M.
    Uitterlinden, Andre G.
    Budoff, Matthew J.
    Lloyd-Jones, Donald M.
    Mosley, Jonathan D.
    Rotter, Jerome I.
    Greenland, Philip
    Kavousi, Maryam
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2023, 329 (20): : 1768 - 1777
  • [8] Clinical applications of polygenic risk score for coronary artery disease through the life course
    Fahed, Akl C.
    Natarajan, Pradeep
    [J]. ATHEROSCLEROSIS, 2023, 386
  • [9] Polygenic Risk Score Assessment for Coronary Artery Disease in Asian Indians
    Rout, Madhusmita
    Tung, Gurleen Kaur
    Singh, Jai Rup
    Mehra, Narinder Kumar
    Wander, Gurpreet S.
    Ralhan, Sarju
    Sanghera, Dharambir K.
    [J]. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 2024,
  • [10] Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction
    Jung, Hyein
    Jung, Hae-Un
    Baek, Eun Ju
    Kwon, Shin Young
    Kang, Ji-One
    Lim, Ji Eun
    Oh, Bermseok
    [J]. COMMUNICATIONS BIOLOGY, 2024, 7 (01)