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

Author

Listed:
  • Valur Emilsson

    (Icelandic Heart Association
    University of Iceland)

  • 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
    Wellcome 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
    University of Iceland)

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.

Suggested Citation

  • Valur Emilsson & Valborg Gudmundsdottir & Alexander Gudjonsson & Thorarinn Jonmundsson & Brynjolfur G. Jonsson & Mohd A. Karim & Marjan Ilkov & James R. Staley & Elias F. Gudmundsson & Lenore J. Laune, 2022. "Coding and regulatory variants are associated with serum protein levels and disease," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-28081-6
    DOI: 10.1038/s41467-022-28081-6
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    Cited by:

    1. Jared S. Elenbaas & Upasana Pudupakkam & Katrina J. Ashworth & Chul Joo Kang & Ved Patel & Katherine Santana & In-Hyuk Jung & Paul C. Lee & Kendall H. Burks & Junedh M. Amrute & Robert P. Mecham & Car, 2023. "SVEP1 is an endogenous ligand for the orphan receptor PEAR1," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    2. Valur Emilsson & Elias F. Gudmundsson & Thorarinn Jonmundsson & Brynjolfur G. Jonsson & Michael Twarog & Valborg Gudmundsdottir & Zhiguang Li & Nancy Finkel & Stephen Poor & Xin Liu & Robert Esterberg, 2022. "A proteogenomic signature of age-related macular degeneration in blood," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
    3. Rongling Wang & Mario Gomez Salazar & Iris Pruñonosa Cervera & Amanda Coutts & Karen French & Marlene Magalhaes Pinto & Sabrina Gohlke & Ruben García-Martín & Matthias Blüher & Christopher J. Schofiel, 2024. "Adipocyte deletion of the oxygen-sensor PHD2 sustains elevated energy expenditure at thermoneutrality," Nature Communications, Nature, vol. 15(1), pages 1-15, December.

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