期刊
GENETIC EPIDEMIOLOGY
卷 44, 期 2, 页码 125-138出版社
WILEY
DOI: 10.1002/gepi.22279
关键词
classification; coronary artery disease; machine learning; polygenic risk scores; prediction
资金
- Deutsche Forschungsgemeinschaft [KO2250/7]
- Bundesministerium fur Bildung und Forschung [81Z1700103]
Coronary artery disease (CAD) is the leading global cause of mortality and has substantial heritability with a polygenic architecture. Recent approaches of risk prediction were based on polygenic risk scores (PRS) not taking possible nonlinear effects into account and restricted in that they focused on genetic loci associated with CAD, only. We benchmarked PRS, (penalized) logistic regression, naive Bayes (NB), random forests (RF), support vector machines (SVM), and gradient boosting (GB) on a data set of 7,736 CAD cases and 6,774 controls from Germany to identify the algorithms for most accurate classification of CAD status. The final models were tested on an independent data set from Germany (527 CAD cases and 473 controls). We found PRS to be the best algorithm, yielding an area under the receiver operating curve (AUC) of 0.92 (95% CI [0.90, 0.95], 50,633 loci) in the German test data. NB and SVM (AUC similar to 0.81) performed better than RF and GB (AUC similar to 0.75). We conclude that using PRS to predict CAD is superior to machine learning methods.
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