Coding and regulatory variants are associated with serum protein levels and disease.
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Authors
Gudjonsson, Alexander
Jonsson, Brynjolfur G
Karim, Mohd A
Ilkov, Marjan
Staley, James R
Lindeman, Jan H
Lamb, John R
Publication Date
2022-01-25Journal Title
Nat Commun
ISSN
2041-1723
Publisher
Springer Science and Business Media LLC
Volume
13
Issue
1
Language
eng
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Emilsson, V., Gudmundsdottir, V., Gudjonsson, A., Jonmundsson, T., Jonsson, B. G., Karim, M. A., Ilkov, M., et al. (2022). Coding and regulatory variants are associated with serum protein levels and disease.. Nat Commun, 13 (1) https://doi.org/10.1038/s41467-022-28081-6
Abstract
Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep serum proteome survey recently revealed close associations between serum protein networks and common disease. In the current study, 54,469 low-frequency and common exome-array variants were compared to 4782 protein measurements in the serum of 5343 individuals from the AGES Reykjavik cohort. This analysis identifies a large number of serum proteins with genetic signatures overlapping those of many diseases. More specifically, using a study-wide significance threshold, we find that 2021 independent exome array variants are associated with serum levels of 1942 proteins. These variants reside in genetic loci shared by hundreds of complex disease traits, highlighting serum proteins' emerging role as biomarkers and potential causative agents of a wide range of diseases.
Keywords
Humans, Disease, Genetic Predisposition to Disease, Blood Proteins, Proteome, Genotype, Polymorphism, Single Nucleotide, Aged, Iceland, Female, Male, Exome
Sponsorship
Icelandic Centre for Research (195761-051)
NIA NIH HHS (R01 AG065596, N01AG12100)
Wellcome Trust (206194)
NIDA NIH HHS (HHSN271201200022C)
Identifiers
PMC8789809, 35079000
External DOI: https://doi.org/10.1038/s41467-022-28081-6
This record's URL: https://www.repository.cam.ac.uk/handle/1810/334479
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