Genetic determinants of plasma protein levels in the Estonian population.
Détails
Télécharger: 38565889_BIB_2ED69D7E6C4B.pdf (3133.82 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_2ED69D7E6C4B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Genetic determinants of plasma protein levels in the Estonian population.
Périodique
Scientific reports
Collaborateur⸱rice⸱s
Estonian Biobank Research Team
Contributeur⸱rice⸱s
Metspalu A., Milani L., Nelis M., Hudjashov G.
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Statut éditorial
Publié
Date de publication
02/04/2024
Peer-reviewed
Oui
Editeur⸱rice scientifique
Metspalu A Milani L. Nelis M. Hudjashov G., Estonian Biobank Research Team
Volume
14
Numéro
1
Pages
7694
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
The proteome holds great potential as an intermediate layer between the genome and phenome. Previous protein quantitative trait locus studies have focused mainly on describing the effects of common genetic variations on the proteome. Here, we assessed the impact of the common and rare genetic variations as well as the copy number variants (CNVs) on 326 plasma proteins measured in up to 500 individuals. We identified 184 cis and 94 trans signals for 157 protein traits, which were further fine-mapped to credible sets for 101 cis and 87 trans signals for 151 proteins. Rare genetic variation contributed to the levels of 7 proteins, with 5 cis and 14 trans associations. CNVs were associated with the levels of 11 proteins (7 cis and 5 trans), examples including a 3q12.1 deletion acting as a hub for multiple trans associations; and a CNV overlapping NAIP, a sensor component of the NAIP-NLRC4 inflammasome which is affecting pro-inflammatory cytokine interleukin 18 levels. In summary, this work presents a comprehensive resource of genetic variation affecting the plasma protein levels and provides the interpretation of identified effects.
Mots-clé
Humans, Genome-Wide Association Study, Proteome/genetics, Estonia, Polymorphism, Single Nucleotide, Quantitative Trait Loci/genetics, Blood Proteins/genetics, DNA Copy Number Variations/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
08/04/2024 13:16
Dernière modification de la notice
09/08/2024 14:57