Human serum proteome profoundly overlaps with genetic signatures of disease

Valur Emilsson, Valborg Gudmundsdottir, Marjan Ilkov, James R Staley, Alexander Gudjonsson, Elias F Gudmundsson, Lenore J Launer, Jan H Lindeman, Nicholas M Morton, Thor Aspelund, John R Lamb, Lori L Jennings, Vilmundur Gudnason

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Received Date: 26th April 20

Circulating proteins are prognostic for human outcomes including cancer, heart failure, brain trauma and brain amyloid plaque burden. A deep serum proteome survey recently revealed close associations of serum protein networks and common diseases. The present study reveals unprecedented number of individual serum proteins that overlap genetic signatures of diseases emanating from different tissues of the body. Here, 55,932 low-frequency and common exome-array variants were compared with 4782 protein measurements in the serum of 5457 individuals of the deeply annotated AGES Reykjavik cohort. At a Bonferroni adjusted P-value threshold < 2.16´10-10, 5553 variants affecting levels of 1931 serum proteins were detected. These associated variants overlapped genetic loci for hundreds of complex disease traits, emphasizing the emerging role for serum proteins as biomarkers of and potential causative agents of multiple diseases.

Read in full at bioRxiv.

This is an abstract of a preprint hosted on an independent third party site. It has not been peer reviewed but is currently under consideration at Nature Communications.

Nature Communications

Nature Research, Springer Nature