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

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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.date.accessioned2022-02-27T02:02:16Z
dc.date.available2022-02-27T02:02:16Z
dc.date.issued2022-01-25
dc.identifier.issn2041-1723
dc.identifier.otherPMC8789809
dc.identifier.other35079000
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/334479
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.
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourcenlmid: 101528555
dc.sourceessn: 2041-1723
dc.subjectAged
dc.subjectBlood Proteins
dc.subjectDisease
dc.subjectExome
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGenotype
dc.subjectHumans
dc.subjectIceland
dc.subjectMale
dc.subjectPolymorphism, Single Nucleotide
dc.subjectProteome
dc.titleCoding and regulatory variants are associated with serum protein levels and disease.
dc.typeArticle
dc.date.updated2022-02-27T02:02:14Z
prism.issueIdentifier1
prism.publicationNameNat Commun
prism.volume13
dc.identifier.doi10.17863/CAM.81896
dcterms.dateAccepted2022-01-07
rioxxterms.versionofrecord10.1038/s41467-022-28081-6
rioxxterms.versionVoR
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidEmilsson, Valur [0000-0001-9982-0524]
dc.contributor.orcidGudmundsdottir, Valborg [0000-0002-7459-1603]
dc.contributor.orcidJonmundsson, Thorarinn [0000-0001-9158-0087]
dc.contributor.orcidGudmundsson, Elias F [0000-0002-7661-4872]
dc.contributor.orcidLauner, Lenore J [0000-0002-3238-7612]
dc.contributor.orcidMorton, Nicholas M [0000-0001-8218-8462]
dc.contributor.orcidAspelund, Thor [0000-0002-7998-5433]
dc.contributor.orcidJennings, Lori L [0000-0001-5130-8417]
dc.contributor.orcidGudnason, Vilmundur [0000-0001-5696-0084]
dc.identifier.eissn2041-1723
pubs.funder-project-idIcelandic Centre for Research (195761-051)
pubs.funder-project-idNIA NIH HHS (R01 AG065596, N01AG12100)
pubs.funder-project-idWellcome Trust (206194)
pubs.funder-project-idNIDA NIH HHS (HHSN271201200022C)
cam.issuedOnline2022-01-25


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International