Coding and regulatory variants are associated with serum protein levels and disease

Almenn færsla
dc.contributor.authorEmilsson, Valur
dc.contributor.authorGudmundsdottir, Valborg
dc.contributor.authorGudjonsson, Alexander
dc.contributor.authorJonmundsson, Thorarinn
dc.contributor.authorJonsson, Brynjolfur G
dc.contributor.authorKarim, Mohd A
dc.contributor.authorIlkov, Marjan
dc.contributor.authorStaley, James R
dc.contributor.authorGudmundsson, Elias F
dc.contributor.authorLauner, Lenore J
dc.contributor.authorLindeman, Jan H
dc.contributor.authorMorton, Nicholas M
dc.contributor.authorAspelund, Thor
dc.contributor.authorLamb, John R
dc.contributor.authorJennings, Lori L
dc.contributor.authorGudnason, Vilmundur
dc.contributor.departmentFaculty of Medicine
dc.contributor.schoolHealth Sciences
dc.date.accessioned2025-11-20T08:46:57Z
dc.date.available2025-11-20T08:46:57Z
dc.date.issued2022-01-25
dc.description© 2022. The Author(s). Funding Information: The study was supported by the Novartis Institute for Biomedical Research, and protein measurements for the AGES-RS cohort were performed at SomaLogic. J.R.L. and L.L.J. are employees and stockholders of Novartis. The remaining authors declare no competing interests. Funding Information: The authors acknowledge the contribution of the Icelandic Heart Association (IHA) staff to AGES-RS, as well as the involvement of all study participants. The National Institute on Aging (NIA) contracts N01-AG-12100 and HHSN271201200022C for V.G. financed the study. V.G. received funding from the NIA (1R01AG065596), and IHA received a grant from Althingi (the Icelandic Parliament). The Icelandic Research Fund (IRF) funded V.E. and Va.G. with grants 195761-051, 184845-053, and 206692-051, while Va.G. received a postdoctoral research grant from the University of Iceland Research Fund. M.A.K. was funded by Open Targets and by the Wellcome Trust Grant 206194. Publisher Copyright: © 2022, The Author(s).en
dc.description.abstractCirculating 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.en
dc.description.versionPeer revieweden
dc.format.extent6974860
dc.format.extent481
dc.identifier.citationEmilsson, V, Gudmundsdottir, V, Gudjonsson, A, Jonmundsson, T, Jonsson, B G, Karim, M A, Ilkov, M, Staley, J R, Gudmundsson, E F, Launer, L J, Lindeman, J H, Morton, N M, Aspelund, T, Lamb, J R, Jennings, L L & Gudnason, V 2022, 'Coding and regulatory variants are associated with serum protein levels and disease', Nature Communications, vol. 13, no. 1, 481, pp. 481. https://doi.org/10.1038/s41467-022-28081-6en
dc.identifier.doi10.1038/s41467-022-28081-6
dc.identifier.issn2041-1723
dc.identifier.other51805048
dc.identifier.other2d34bf85-9a01-4094-8477-9e7dfee36eb1
dc.identifier.other35079000
dc.identifier.otherPubMedCentral: PMC8789809
dc.identifier.other85123475539
dc.identifier.otherunpaywall: 10.1038/s41467-022-28081-6
dc.identifier.other000747410400014
dc.identifier.urihttps://hdl.handle.net/20.500.11815/6735
dc.language.isoen
dc.relation.ispartofseriesNature Communications; 13(1)en
dc.relation.urlhttps://www.scopus.com/pages/publications/85123475539en
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.subjectAgeden
dc.subjectBlood Proteins/geneticsen
dc.subjectDisease/classificationen
dc.subjectExome/geneticsen
dc.subjectFemaleen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenotypeen
dc.subjectHumansen
dc.subjectIcelanden
dc.subjectMaleen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectProteome/metabolismen
dc.subjectBlóðprótínen
dc.subjectMultidisciplinaryen
dc.subjectGeneral Physics and Astronomyen
dc.subjectGeneral Chemistryen
dc.subjectGeneral Biochemistry,Genetics and Molecular Biologyen
dc.titleCoding and regulatory variants are associated with serum protein levels and diseaseen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/articleen

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