Coding and regulatory variants affect serum protein levels and common disease
bioRxiv (Cold Spring Harbor Laboratory)
Abstract
Abstract 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, 54,469 low-frequency and common exome-array variants were compared with 4782 protein measurements in the serum of 5343 individuals of the deeply annotated AGES Reykjavik cohort. Using a study-wide significant threshold, 2019 independent exome array variants affecting levels of 2135 serum proteins were identified. These 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.
Authors 15
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Valur Emilsson corresponding
University of Iceland · Icelandic Heart Association
Affiliation as printed
Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland
Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Iceland
Icelandic Heart Association, Holtasmari , IS-20 Kopavogur, Iceland
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Affiliation as printed
Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Iceland
Icelandic Heart Association, Holtasmari , IS-20 Kopavogur, Iceland
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Affiliation as printed
Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Iceland
Icelandic Heart Association, Holtasmari , IS-20 Kopavogur, Iceland
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Wellcome Sanger Institute · Open Targets
Affiliation as printed
Open Targets, Wellcome Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK
Wellcome Trust Sanger Institute, Welcome Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
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Affiliation as printed
Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Iceland
Icelandic Heart Association, Holtasmari , IS-20 Kopavogur, Iceland
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Affiliation as printed
MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
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Affiliation as printed
Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Iceland
Icelandic Heart Association, Holtasmari , IS-20 Kopavogur, Iceland
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Affiliation as printed
Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Iceland
Icelandic Heart Association, Holtasmari , IS-20 Kopavogur, Iceland
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National Institutes of Health · National Institute on Aging
Affiliation as printed
Laboratory of Epidemiology and Population Sciences, Intramural Research Program, National Institute on Aging, Bethesda, MD 20892-9205, USA
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Leiden University Medical Center
Affiliation as printed
Department of General Surgery Leiden University Medical Center, Leiden. Holland
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The Queen's Medical Research Institute · University of Edinburgh
Affiliation as printed
Centre for Cardiovascular Sciences, Queen’s Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, UK
Centre for Cardiovascular Sciences, Queen's Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, UK
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Affiliation as printed
Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Iceland
Icelandic Heart Association, Holtasmari , IS-20 Kopavogur, Iceland
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Genomics Institute of the Novartis Research Foundation
Affiliation as printed
GNF Novartis, 10675 John Jay Hopkins Drive, San Diego, CA 92121, USA
GNF Novartis, 10675 John Jay Hopkins Drive, San Diego, CA 2121, USA
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Affiliation as printed
Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA 02139, USA
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Vilmundur G. Gudnason corresponding
University of Iceland · Icelandic Heart Association
Affiliation as printed
Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland
Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Iceland
Icelandic Heart Association, Holtasmari , IS-20 Kopavogur, Iceland
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