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Long Non-Coding RNA in Vascular Disease and Aging
Open AccessCommentary

The Missing “lnc” between Genetics and Cardiac Disease

INRS Centre Armand-Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada
Department of Genetics & Cell Biology, School for Mental Health and Neuroscience (MHeNS), Maastricht University, PO box 616, 6200MD, Maastricht, the Netherlands
Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, 6200 MD Maastricht, PO Box 616, The Netherlands
Centre for Molecular and Vascular Biology (CMVB), Department of Cardiovascular Sciences, KU Leuven, B3000 Leuven, Belgium
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Non-Coding RNA 2020, 6(1), 3;
Received: 13 December 2019 / Revised: 9 January 2020 / Accepted: 10 January 2020 / Published: 14 January 2020
(This article belongs to the Collection Regulatory RNAs in Cardiovascular Development and Disease)
: Cardiovascular disease (CVD) is one of the biggest threats to public health worldwide. Identifying key genetic contributors to CVD enables clinicians to assess the most effective treatment course and prognosis, as well as potentially inform family members. This often involves either whole exome sequencing (WES) or targeted panel analysis of known pathogenic genes. In the future, tailored or personalized therapeutic strategies may be implemented, such as gene therapy. With the recent revolution in deep sequencing technologies, we know that up to 90% of the human genome is transcribed, despite only 2% of the 6 billion DNA bases coding for proteins. The long non-coding RNA (lncRNA) “genes” make up an important and significant fraction of this “dark matter” of the genome. We highlight how, despite lncRNA genes exceeding that of classical protein-coding genes by number, the “non-coding” human genome is neglected when looking for genetic components of disease. WES platforms and pathogenic gene panels still do not cover even characterized lncRNA genes that are functionally involved in the pathophysiology of CVD. We suggest that the importance of lncRNAs in disease causation and progression be taken as seriously as that of pathogenic protein variants and mutations, and that this is maybe a new area of attention for clinical geneticists.
Keywords: cardiovascular disease (CVD); long non-coding RNA (lncRNA); whole exome sequencing (WES); whole genome sequencing (WGS); pathogenic gene variants cardiovascular disease (CVD); long non-coding RNA (lncRNA); whole exome sequencing (WES); whole genome sequencing (WGS); pathogenic gene variants
MDPI and ACS Style

Azodi, M.; Kamps, R.; Heymans, S.; Robinson, E.L. The Missing “lnc” between Genetics and Cardiac Disease. Non-Coding RNA 2020, 6, 3.

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