cam.issuedOnline	2022-01-25
dc.contributor.author	Emilsson, Valur
dc.contributor.author	Gudmundsdottir, Valborg
dc.contributor.author	Gudjonsson, Alexander
dc.contributor.author	Jonmundsson, Thorarinn
dc.contributor.author	Jonsson, Brynjolfur G
dc.contributor.author	Karim, Mohd A
dc.contributor.author	Ilkov, Marjan
dc.contributor.author	Staley, James R
dc.contributor.author	Gudmundsson, Elias F
dc.contributor.author	Launer, Lenore J
dc.contributor.author	Lindeman, Jan H
dc.contributor.author	Morton, Nicholas M
dc.contributor.author	Aspelund, Thor
dc.contributor.author	Lamb, John R
dc.contributor.author	Jennings, Lori L
dc.contributor.author	Gudnason, Vilmundur
dc.contributor.orcid	Emilsson, Valur [0000-0001-9982-0524]
dc.contributor.orcid	Gudmundsdottir, Valborg [0000-0002-7459-1603]
dc.contributor.orcid	Jonmundsson, Thorarinn [0000-0001-9158-0087]
dc.contributor.orcid	Gudmundsson, Elias F [0000-0002-7661-4872]
dc.contributor.orcid	Launer, Lenore J [0000-0002-3238-7612]
dc.contributor.orcid	Morton, Nicholas M [0000-0001-8218-8462]
dc.contributor.orcid	Aspelund, Thor [0000-0002-7998-5433]
dc.contributor.orcid	Jennings, Lori L [0000-0001-5130-8417]
dc.contributor.orcid	Gudnason, Vilmundur [0000-0001-5696-0084]
dc.date.accessioned	2022-01-28T16:48:41Z
dc.date.available	2022-01-28T16:48:41Z
dc.date.issued	2022-01-25
dc.date.submitted	2020-04-26
dc.date.updated	2022-01-28T16:48:40Z
dc.description.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.
dc.identifier.doi	10.17863/CAM.80762
dc.identifier.eissn	2041-1723
dc.identifier.issn	2041-1723
dc.identifier.other	s41467-022-28081-6
dc.identifier.other	28081
dc.identifier.uri	https://www.repository.cam.ac.uk/handle/1810/333339
dc.language	en
dc.publisher	Springer Science and Business Media LLC
dc.subject	Article
dc.subject	/631/208/205/2138
dc.subject	/692/53/2422
dc.subject	/631/45/475
dc.subject	/82/80
dc.subject	/45/43
dc.subject	article
dc.title	Coding and regulatory variants are associated with serum protein levels and disease.
dc.type	Article
dcterms.dateAccepted	2022-01-07
prism.issueIdentifier	1
prism.publicationName	Nat Commun
prism.volume	13
pubs.funder-project-id	Icelandic Centre for Research (Rannsóknamiðstöð Íslands) (195761-051)
rioxxterms.licenseref.uri	http://creativecommons.org/licenses/by/4.0/
rioxxterms.version	VoR
rioxxterms.versionofrecord	10.1038/s41467-022-28081-6

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

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