Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.
Mendelian disease
genome wide association analysis (GWAS)
non-coding mutations
open reading frame (ORF)
polymorphism
Journal
Frontiers in cardiovascular medicine
ISSN: 2297-055X
Titre abrégé: Front Cardiovasc Med
Pays: Switzerland
ID NLM: 101653388
Informations de publication
Date de publication:
2022
2022
Historique:
received:
21
12
2021
accepted:
21
02
2022
entrez:
7
4
2022
pubmed:
8
4
2022
medline:
8
4
2022
Statut:
epublish
Résumé
High-throughput sequencing (HTS) technologies are revolutionizing the research and molecular diagnosis landscape by allowing the exploration of millions of nucleotide sequences at an unprecedented scale. These technologies are of particular interest in the identification of genetic variations contributing to the risk of rare (Mendelian) and common (multifactorial) human diseases. So far, they have led to numerous successes in identifying rare disease-causing mutations in coding regions, but few in non-coding regions that include introns, untranslated (UTR), and intergenic regions. One class of neglected non-coding variations is that of 5'UTR variants that alter upstream open reading frames (upORFs) of the coding sequence (CDS) of a natural protein coding transcript. Following a brief summary of the molecular bases of the origin and functions of upORFs, we will first review known 5'UTR variations altering upORFs and causing rare cardiovascular disorders (CVDs). We will then investigate whether upORF-affecting single nucleotide polymorphisms could be good candidates for explaining association signals detected in the context of genome-wide association studies for common complex CVDs.
Identifiants
pubmed: 35387445
doi: 10.3389/fcvm.2022.841032
pmc: PMC8977850
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
841032Informations de copyright
Copyright © 2022 Soukarieh, Meguerditchian, Proust, Aïssi, Eyries, Goyenvalle and Trégouët.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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