Integrative machine learning and Mendelian randomization identify causal laboratory biomarkers for coronary artery

Hancao Yang1, Meng Wu2, Keqing Liang1

  • 1Department of Clinical Laboratory, Children's Hospital of Fudan University & National Children Medical Center, Shanghai, China.

Frontiers in Genetics
|September 2, 2025
PubMed

Insights

Artificial intelligence models can predict coronary artery lesion (CAL) risk in children with Kawasaki disease (KD). This approach, validated with genetic analysis, aids early intervention for CALs in KD patients.

Area of Science:

  • Pediatric Cardiology
  • Artificial Intelligence in Medicine
  • Genetics

Background:

  • Kawasaki disease (KD) poses a significant risk of coronary artery lesions (CALs) in children.
  • Early identification of high-risk patients is crucial for timely intervention and improved outcomes.

Purpose of the Study:

  • To develop and validate an artificial intelligence (AI) model for predicting CAL risk in KD patients.
  • To identify key predictive features and their causal associations with CALs.

Main Methods:

  • Utilized machine learning (ML) models, including Multi-Layer Perceptron Classifier (MLPC), Random Forest (RF), and Extra Tree (ET), on data from 506 KD patients.
  • Performed time-across validation and Mendelian randomization (MR) analysis to assess model performance and genetic causality.
  • Identified seven predictive features for model development.

Main Results:

  • MLPC demonstrated the highest accuracy among the validated ML models.
  • Activated partial thromboplastin time (APTT) and red cell distribution width (RDW) were identified as causal factors associated with CALs.
  • The AI model, supported by genetic validation, offers reliable risk stratification.

Conclusions:

  • AI-based prediction models, integrated with genetic insights from MR, provide a robust method for early CAL risk assessment in KD.
  • This strategy can facilitate prompt clinical management and potentially reduce the incidence of severe complications.