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Related Experiment Video

Updated: Dec 30, 2025

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The Missing "lnc" between Genetics and Cardiac Disease.

Maral Azodi1, Rick Kamps2, Stephane Heymans3,4

  • 1INRS Centre Armand-Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.

Non-Coding RNA
|January 18, 2020
PubMed
Summary

Long non-coding RNAs (lncRNAs) are crucial genetic contributors to cardiovascular disease (CVD) but are often overlooked. Current genetic testing methods neglect lncRNAs, hindering personalized CVD treatment and risk assessment.

Keywords:
cardiovascular disease (CVD)long non-coding RNA (lncRNA)pathogenic gene variantswhole exome sequencing (WES)whole genome sequencing (WGS)

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Area of Science:

  • Genomics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Cardiovascular disease (CVD) poses a significant global health threat.
  • Identifying genetic factors is key for effective CVD treatment, prognosis, and family risk assessment.
  • Current genetic analyses, like whole exome sequencing (WES), primarily focus on protein-coding genes.

Purpose of the Study:

  • To highlight the underappreciated role of long non-coding RNAs (lncRNAs) in cardiovascular disease pathophysiology.
  • To advocate for the inclusion of lncRNAs in genetic analyses for CVD.
  • To emphasize lncRNAs as a potential area for clinical geneticists.

Main Methods:

  • Review of current genetic sequencing technologies and their limitations.
  • Analysis of the proportion of transcribed human genome vs. protein-coding genes.
  • Examination of the coverage of lncRNA genes in existing WES and gene panels.

Main Results:

  • Up to 90% of the human genome is transcribed, with long non-coding RNAs (lncRNAs) constituting a large portion.
  • lncRNA genes significantly outnumber protein-coding genes.
  • Existing WES and gene panels largely exclude characterized lncRNA genes relevant to CVD.

Conclusions:

  • lncRNAs are a critical, yet neglected, component of the human genome in disease research.
  • lncRNAs play a functional role in the pathophysiology of cardiovascular disease.
  • Integrating lncRNA analysis into clinical genetic testing is essential for comprehensive CVD assessment and personalized medicine.