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Peripheral Blood Transcripts Predict Preoperative Obstructive Total Anomalous Pulmonary Venous Connection.

Zunmin Wan1, Xiaohong Li2, Jinghua Sun1,3

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|June 17, 2022
PubMed
Summary

Researchers identified key molecular markers in peripheral blood leukocytes to detect obstructive total anomalous pulmonary venous connection (TAPVC). This finding may lead to improved diagnostic tools and precision healthcare for TAPVC patients.

Keywords:
MEG3machine learningperipheral leukocyte transcriptspreoperative obstructiontotal anomalous pulmonary venous connection

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Area of Science:

  • Cardiovascular Research
  • Molecular Biology
  • Genomics

Background:

  • Noninvasive molecular tools are needed to understand total anomalous pulmonary venous connection (TAPVC) and guide treatment.
  • Current understanding of TAPVC's molecular basis and effective surgical strategies is limited.

Purpose of the Study:

  • To identify molecular alterations in peripheral leukocyte transcripts associated with obstructive TAPVC.
  • To develop predictive models for identifying obstructive TAPVC using machine learning.

Main Methods:

  • Analysis of peripheral leukocyte mRNA and long noncoding RNA (lncRNA) in 48 TAPVC patients (26 obstructive, 22 non-obstructive).
  • Differential gene expression analysis and pathway enrichment.
  • Development and validation of machine-learning predictive models.

Main Results:

  • 256 differentially expressed mRNAs and 27 lncRNAs were identified.
  • Upregulated mRNAs were linked to fibrosis-associated pathways like hydrogen peroxide catabolism and neutrophil degranulation.
  • A random forest model accurately predicted obstructive TAPVC using NR3C2 mRNA and MEG3 lncRNA (AUC=1, sensitivity=1).

Conclusions:

  • Peripheral leukocyte transcripts can reveal obstructive pathophysiological changes in TAPVC.
  • NR3C2 and MEG3 are potential biomarkers for obstructive TAPVC.
  • This approach offers a novel direction for TAPVC research and precision healthcare, potentially improving surgical outcomes.