Disentangling genetic effects on transcriptional and post-transcriptional gene regulation through integrating exon and intron expression QTLs.

Détails

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Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_D3A95CE7F2D1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Disentangling genetic effects on transcriptional and post-transcriptional gene regulation through integrating exon and intron expression QTLs.
Périodique
Nature communications
Auteur⸱e⸱s
Brümmer A., Bergmann S.
ISSN
2041-1723 (Electronic)
ISSN-L
2041-1723
Statut éditorial
Publié
Date de publication
06/05/2024
Peer-reviewed
Oui
Volume
15
Numéro
1
Pages
3786
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Résumé
Expression quantitative trait loci (eQTL) studies typically consider exon expression of genes and discard intronic RNA sequencing reads despite their information on RNA metabolism. Here, we quantify genetic effects on exon and intron levels of genes and their ratio in lymphoblastoid cell lines, revealing thousands of cis-QTLs of each type. While genetic effects are often shared between cis-QTL types, 7814 (47%) are not detected as top cis-QTLs at exon levels. We show that exon levels preferentially capture genetic effects on transcriptional regulation, while exon-intron-ratios better detect those on co- and post-transcriptional processes. Considering all cis-QTL types substantially increases (by 71%) the number of colocalizing variants identified by genome-wide association studies (GWAS). It further allows dissecting the potential gene regulatory processes underlying GWAS associations, suggesting comparable contributions by transcriptional (50%) and co- and post-transcriptional regulation (46%) to complex traits. Overall, integrating intronic RNA sequencing reads in eQTL studies expands our understanding of genetic effects on gene regulatory processes.
Mots-clé
Quantitative Trait Loci, Humans, Introns/genetics, Exons/genetics, Genome-Wide Association Study, Gene Expression Regulation, Transcription, Genetic, Cell Line, Sequence Analysis, RNA/methods, Polymorphism, Single Nucleotide
Pubmed
Open Access
Oui
Création de la notice
10/05/2024 14:37
Dernière modification de la notice
11/05/2024 9:07
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