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

Valur Emilsson (), Valborg Gudmundsdottir, Alexander Gudjonsson, Thorarinn Jonmundsson, Brynjolfur G. Jonsson, Mohd A. Karim, Marjan Ilkov, James R. Staley, Elias F. Gudmundsson, Lenore J. Launer, Jan H. Lindeman, Nicholas M. Morton, Thor Aspelund, John R. Lamb, Lori L. Jennings and Vilmundur Gudnason ()
Additional contact information
Valur Emilsson: Icelandic Heart Association
Valborg Gudmundsdottir: Icelandic Heart Association
Alexander Gudjonsson: Icelandic Heart Association
Thorarinn Jonmundsson: University of Iceland
Brynjolfur G. Jonsson: Icelandic Heart Association
Mohd A. Karim: Welcome Genome Campus
Marjan Ilkov: Icelandic Heart Association
James R. Staley: University of Cambridge
Elias F. Gudmundsson: Icelandic Heart Association
Lenore J. Launer: National Institute on Aging
Jan H. Lindeman: Department of Surgery, Leiden University Medical Center
Nicholas M. Morton: University of Edinburgh
Thor Aspelund: Icelandic Heart Association
John R. Lamb: GNF Novartis
Lori L. Jennings: Novartis Institutes for Biomedical Research
Vilmundur Gudnason: Icelandic Heart Association

Nature Communications, 2022, vol. 13, issue 1, 1-11

Abstract: 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.

Date: 2022
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DOI: 10.1038/s41467-022-28081-6

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