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Human serum proteome profoundly overlaps with genetic signatures of disease

By 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

Posted 08 May 2020
bioRxiv DOI: 10.1101/2020.05.06.080440

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 < 2.16E-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. ### Competing Interest Statement J.R.L. and L.L.J. was and is, respectively, employees of and own stocks in Novartis. All other authors declare they have no competing interests.

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