Evidence map›Paper›PMID 41310232›Full record

ArticleNature genetics2025

A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.

Karsten Suhre, Qingwen Chen, Anna Halama, Kevin Mendez, Amber Dahlin, Nisha Stephan, Gaurav Thareja, Hina Sarwath, Harendra Guturu, Varun B Dwaraka and 4 more

Abstract read
In one paragraph

Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors.

Karsten SuhreBioinformatics Core, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar. kas2049@qatar-med.cornell.edu.ORCID http://orcid.org/0000-0001-9638-3912
Qingwen ChenChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-2946-4947
Anna HalamaBioinformatics Core, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar.ORCID http://orcid.org/0000-0003-4910-6255
Kevin MendezChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Amber DahlinChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Nisha StephanBioinformatics Core, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar.ORCID http://orcid.org/0000-0002-8133-2597
Gaurav TharejaBioinformatics Core, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar.ORCID http://orcid.org/0000-0003-2277-6400
Hina SarwathProteomics Core, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar.
Harendra GuturuSeer, Inc., Redwood City, CA, USA.
Varun B DwarakaTruDiagnostic Inc., Lexington, KY, USA.
Ryan SmithTruDiagnostic Inc., Lexington, KY, USA.
Serafim BatzoglouSeer, Inc., Redwood City, CA, USA.
Frank SchmidtProteomics Core, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar.
Jessica A Lasky-SuChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. rejas@channing.harvard.edu.ORCID http://orcid.org/0000-0001-6236-4705

Funding

Proteomics and Metabolomics Core: IDEAL shapes vaccine response, susceptibility to respiratory infectious disease and asthmaU19AI168643 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI OFER LEVY · 2022 to 2026
$10.0M
Integrative Metabolomics of Asthma SeverityR01HL123915 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI LASKY-SU, JESSICA A · 2014 to 2023
$7.0M
Omic Determinants of Longitudinal Lung Function in AsthmaR01HL155742 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI LASKY-SU, JESSICA A, MCGEACHIE, MICHAEL JOHN · 2021 to 2025
$3.9M
Better utilization of omics data to inform precision medicine for asthma throughout the life courseR01HL169300 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI JESSICA A LASKY-SU · 2024 to 2026
$2.3M
NHLBI NIH HHS R01 HL123915NHLBI NIH HHS R01 HL155742NHLBI NIH HHS R01 HL169300NIAID NIH HHS U19 AI168643U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01HL155742
6 · The paper itself

Abstract

Most studies to date of protein quantitative trait loci (pQTLs) have relied on affinity proteomics platforms, which provide only limited information about the targeted protein isoforms and may be affected by genetic variation in their epitope binding. Here we show that mass spectrometry (MS)-based proteomics can complement these studies and provide insights into the role of specific protein isoform and epitope-altering variants. Using the Seer Proteograph nanoparticle enrichment MS platform, we identified and replicated new pQTLs in a genome-wide association study of proteins in blood plasma samples from two cohorts and evaluated previously reported pQTLs from affinity proteomics platforms. We found that >30% of the evaluated pQTLs were confirmed by MS proteomics to be consistent with the hypothesis that genetic variants induce changes in protein abundance, whereas another 30% could not be replicated and are possibly due to epitope effects, although alternative explanations for nonreplication need to be considered on a case-by-case basis.

Indexed as

Genome-Wide Association StudyMass SpectrometryNanoparticlesProteomicsQuantitative Trait LociHumansPolymorphism, Single NucleotideProtein IsoformsProtein Isoforms

Identifiers

PMID41310232
PMCPMC12695657

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.