Evidence map›Paper›PMID 35079000›Full record

ArticleNature communications2022

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 and 6 more

Abstract read
In one paragraph

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

38 citing papers in PubMed.

  1. Trial
  2. Proteogenomics in human populations.Nature reviews. Genetics · 2026
    Review
  3. Article
  4. Article
  5. The impact of low-frequency genetic variants on serum protein levels.bioRxiv : the preprint server for biology · 2026
    Article
  6. Article
  7. Article
  8. Article
  9. Mechanistic Insights into Tumorigenesis from Serum Proteins.medRxiv : the preprint server for health sciences · 2025
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Assessing the causal relationship between plasma proteins and osteoporosis: novel insights into pathological mechanisms and therapeutic implications.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Valur Emilsson *Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland. valur@hjarta.is.ORCID http://orcid.org/0000-0001-9982-0524
Valborg Gudmundsdottir *Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland.ORCID http://orcid.org/0000-0002-7459-1603
Alexander Gudjonsson *Icelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland.
Thorarinn JonmundssonFaculty of Medicine, University of Iceland, 101 Reykjavik, Reykjavík, Iceland.ORCID http://orcid.org/0000-0001-9158-0087
Brynjolfur G JonssonIcelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland.
Mohd A KarimWellcome Trust Sanger Institute, Welcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Marjan IlkovIcelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland.
James R StaleyBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Elias F GudmundssonIcelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland.ORCID http://orcid.org/0000-0002-7661-4872
Lenore J LaunerLaboratory of Epidemiology and Population Sciences, Intramural Research Program, National Institute on Aging, Bethesda, MD, 20892-9205, USA.ORCID http://orcid.org/0000-0002-3238-7612
Jan H LindemanDepartment of Surgery, Leiden University Medical Center, Leiden, Netherlands.
Nicholas M MortonCentre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, Edinburgh, EH16 4TJ, UK.ORCID http://orcid.org/0000-0001-8218-8462
Thor AspelundIcelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland.ORCID http://orcid.org/0000-0002-7998-5433
John R LambGNF Novartis, 10675 John Jay Hopkins Drive, San Diego, CA, 92121, USA.
Lori L JenningsNovartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.ORCID http://orcid.org/0000-0001-5130-8417
Vilmundur GudnasonIcelandic Heart Association, Holtasmari 1, IS-201 Kopavogur, Kopavogur, Iceland. v.gudnason@hjarta.is.ORCID http://orcid.org/0000-0001-5696-0084

Funding

CLINICAL PROJECT: Age, Gene/Environment Susceptibility Study on the Multi-omics of Aging: A clinical epidemiologic prospective studyZIAAG007380 · NIA · NATIONAL INSTITUTE ON AGING · PI LAUNER, LENORE J · 2009 to 2025
$6.1M
Genetic Markers of Brain AgingZIAAG007270 · NIA · NATIONAL INSTITUTE ON AGING · PI LAUNER, LENORE J · 2009 to 2025
$2.7M
Serum proteome analysis of Alzheimer´s disease in a population-based longitudinal cohort study - the AGES Reykjavik studyR01AG065596 · NIA · ICELANDIC HEART ASSOCIATION · PI Valborg Gudmundsdottir · 2021 to 2026
$2.6M
AGES STUDY-THE REYKJAVIK STUDY OF HEALTHY AGING FOR THE NEW MILLENNIUM-26012100N01AG012100 · NIA · ICELANDIC HEART ASSOCIATION · 2002 to 2004
–
NIA NIH HHS N01 AG012100NIA NIH HHS R01 AG065596NIDA NIH HHS HHSN271201200022CWellcome TrustWellcome Trust 206194
6 · The paper itself

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.

Indexed as

Genetic Predisposition to DiseaseGenotypePolymorphism, Single NucleotideAgedBlood ProteinsDiseaseExomeFemaleHumansIcelandMaleProteomeBlood ProteinsProteome

Identifiers

PMID35079000
PMCPMC8789809

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.