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Record W4406805491 · doi:10.1038/s41588-024-02052-7

Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease

2025· article· en· W4406805491 on OpenAlexafffund
Satoshi Yoshiji, Tianyuan Lu, Guillaume Butler‐Laporte, Julia Carrasco-Zanini, Chen‐Yang Su, Yiheng Chen, Kevin Y. H. Liang, Julian Willett, Shidong Wang, Darin Adra, Yann Ilboudo, Takayoshi Sasako, Satoshi Koyama, Tetsushi Nakao, Vincenzo Forgetta, Yossi Farjoun, Hugo Zeberg, Sirui Zhou, Michael Hultström, Mitchell J. Machiela, Rama Kaalia, Hesam Dashti, Melina Claussnitzer, Jason Flannick, Nicholas J. Wareham, Vincent Mooser, Nicholas J. Timpson, Claudia Langenberg, J. Brent Richards

Bibliographic record

VenueNature Genetics · 2025
Typearticle
Languageen
FieldImmunology and Microbiology
TopicAtherosclerosis and Cardiovascular Diseases
Canadian institutionsMcGill University Health CentreMcGill UniversityMcGill Genome CentreUniversity of TorontoJewish General Hospital
FundersNational Institute of Neurological Disorders and StrokeNIH Office of the DirectorNational Human Genome Research InstituteNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteMedical Research CouncilFonds de Recherche du Québec - SantéNational Institutes of HealthNational Institute of Diabetes and Digestive and Kidney DiseasesGovernment of CanadaFondation de l'Hôpital général juifMinistry of Education, Culture, Sports, Science and TechnologyNational Institute on Drug AbuseNovo NordiskPublic Health AgencyNational Cancer InstituteUniversity of BristolEuropean CommissionNational Institute for Health and Care ResearchTD BankKing's College LondonJewish General HospitalCanada Excellence Research Chairs, Government of CanadaCancer Research UKWellcome TrustPublic Health Agency of CanadaMcGill UniversityCanadian Institutes of Health ResearchCompute CanadaCommon FundJapan Society for the Promotion of ScienceNovo Nordisk Fonden
KeywordsMendelian randomizationCoronary artery diseaseDiseaseBioinformaticsObesityType 2 diabetesBiologyInternal medicineDiabetes mellitusMedicineEndocrinologyCancer researchGeneGeneticsGenotypeGenetic variants

Abstract

fetched live from OpenAlex

Obesity strongly increases the risk of cardiometabolic diseases, yet the underlying mediators of this relationship are not fully understood. Given that obesity strongly influences circulating protein levels, we investigated proteins mediating the effects of obesity on coronary artery disease, stroke and type 2 diabetes. By integrating two-step proteome-wide Mendelian randomization, colocalization, epigenomics and single-cell RNA sequencing, we identified five mediators and prioritized collagen type VI α3 (COL6A3). COL6A3 levels were strongly increased by body mass index and increased coronary artery disease risk. Notably, the carboxyl terminus product of COL6A3, endotrophin, drove this effect. COL6A3 was highly expressed in disease-relevant cell types and tissues. Finally, we found that body fat reduction could reduce plasma levels of COL6A3-derived endotrophin, indicating a tractable way to modify endotrophin levels. In summary, we provide actionable insights into how circulating proteins mediate the effects of obesity on cardiometabolic diseases and prioritize endotrophin as a potential therapeutic target.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.231
Threshold uncertainty score0.458

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.003
GPT teacher head0.220
Teacher spread0.217 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations30
Published2025
Admission routes2
Has abstractyes

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