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Updated: Oct 30, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

5.9K

Two RECK Splice Variants (Long and Short) Are Differentially Expressed in Patients with Stable and Unstable Coronary

Chiara Vancheri1, Elena Morini1, Francesca Romana Prandi2

  • 1Genetics Unit, Department of Biomedicine and Prevention, University of Rome "Tor Vergata", 00133 Rome, Italy.

Genes
|July 2, 2021
PubMed

Insights

Alternative splicing in the RECK gene may help identify biomarkers for coronary artery disease (CAD). Analyzing RECK splice variants in patients could improve risk stratification and predict adverse events.

Area of Science:

  • Genomics
  • Cardiovascular Research
  • Molecular Biology

Background:

  • Coronary artery disease (CAD) prevention requires reliable biomarkers for risk stratification.
  • Alternative splicing (AS) is an understudied genetic factor in CAD.
  • The RECK gene's role in CAD, particularly its splice variants, warrants further investigation.

Purpose of the Study:

  • To investigate differentially regulated alternative splicing events in CAD.
  • To analyze the RECK gene's splice variants in relation to CAD and acute myocardial infarction (AMI).
  • To evaluate the potential of RECK splice variants as biomarkers for distinguishing AMI from stable CAD.

Main Methods:

  • RNA sequencing (RNA-seq) on peripheral blood mononuclear cells (PBMCs) from CAD patients and controls.
  • Differential splicing analysis to identify altered AS events.
  • Case study analyzing RECK splice variants (Long and Short) in control, CAD, and AMI patient cohorts.
  • Receiver Operating Characteristic (ROC) curve analysis to assess diagnostic potential.

Main Results:

  • 113 differentially regulated AS events were identified in 86 genes.
  • Significant downregulation of Long RECK splice variant in AMI patients compared to controls.
  • Both Long and Short RECK splice variants were underexpressed in AMI patients compared to CAD patients.
  • Combined RECK splice variant expression showed high accuracy (AUC = 0.81) in distinguishing AMI from stable CAD.

Conclusions:

  • Combined evaluation of Long and Short RECK splice variant expression is a potential genomic biomarker for discriminating AMI from CAD.
  • These findings highlight the importance of studying RECK splice variants for understanding CAD development and progression.
  • Further research is needed to elucidate the functional role of these splice variants in vascular inflammation and remodeling.

Keywords:
RECKalternative splicing eventbiomarkerscoronary artery diseasesplicing variants

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