SOUKARIEH, Omar; MEGUERDITCHIAN, Caroline; PROUST, Carole; AISSI, Dylan; EYRIES, Melanie; GOYENVALLE, Aurelie; TREGOUET, David-Alexandre

doi:10.3389/fcvm.2022.841032

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Article de revue

Ce document a été publié dans

Frontiers in Cardiovascular Medicine. 2022, vol. 9

Résumé en anglais

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.< Réduire

Mots clés en anglais

Open reading frame (ORF)

Genome wide association analysis (GWAS)

Mendelian disease

Non-coding mutations

Polymorphism

URI

https://oskar-bordeaux.fr/handle/20.500.12278/140034

DOI

http://dx.doi.org/10.3389/fcvm.2022.841032

Project ANR

Medical Genomics - ANR-10-LABX-0013

Unités de recherche

Bordeaux Population Health Research Center (BPH) - UMR 1219

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Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics