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Record W3208200442 · doi:10.1084/jem.20211872

<i>Dnmt3a</i> -mutated clonal hematopoiesis promotes osteoporosis

2021· article· en· W3208200442 on OpenAlexafffund
Peter G. Kim, Abhishek Niroula, Veronica Shkolnik, Marie McConkey, Mikołaj Słabicki, John P. Kemp, Alexander G. Bick, Christopher J. Gibson, Gabriel K. Griffin, Aswin Sekar, Daniel J. Brooks, Waihay J. Wong, Drew N. Cohen, Md Mesbah Uddin, Wesley Shin, James P. Pirruccello, Jonathan M. Tsai, Mridul Agrawal, Douglas P. Kiel, Mary Bouxsein, J. Brent Richards, David M. Evans, Marc N. Wein, Julia F. Charles, Siddhartha Jaiswal, Pradeep Natarajan, Benjamin L. Ebert

Bibliographic record

VenueThe Journal of Experimental Medicine · 2021
Typearticle
Languageen
FieldMedicine
TopicAcute Myeloid Leukemia Research
Canadian institutionsMcGill UniversityJewish General Hospital
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesNational Cancer InstituteLady Davis Institute for Medical ResearchNational Heart, Lung, and Blood InstituteBrigham Research InstituteNational Institutes of HealthFondation de l'Hôpital général juifJewish General HospitalKnut och Alice Wallenbergs StiftelseAmerican Society of HematologyCancer Research UKMcGill UniversityPublic Health Agency of CanadaFondation LeducqEdward P. Evans FoundationCanadian Institutes of Health ResearchDamon Runyon Cancer Research FoundationCompute CanadaDeutsche ForschungsgemeinschaftBurroughs Wellcome FundNational Institute of Arthritis and Musculoskeletal and Skin DiseasesMedical Research CouncilHoward Hughes Medical Institute
KeywordsProinflammatory cytokineBone marrowHaematopoiesisCancer researchOsteoporosisSkeletal disorderSomatic cellInflammationBiologyImmunologyCell biologyGeneticsStem cellGeneEndocrinology

Abstract

fetched live from OpenAlex

Osteoporosis is caused by an imbalance of osteoclasts and osteoblasts, occurring in close proximity to hematopoietic cells in the bone marrow. Recurrent somatic mutations that lead to an expanded population of mutant blood cells is termed clonal hematopoiesis of indeterminate potential (CHIP). Analyzing exome sequencing data from the UK Biobank, we found CHIP to be associated with increased incident osteoporosis diagnoses and decreased bone mineral density. In murine models, hematopoietic-specific mutations in Dnmt3a, the most commonly mutated gene in CHIP, decreased bone mass via increased osteoclastogenesis. Dnmt3a-/- demethylation opened chromatin and altered activity of inflammatory transcription factors. Bone loss was driven by proinflammatory cytokines, including Irf3-NF-κB-mediated IL-20 expression from Dnmt3a mutant macrophages. Increased osteoclastogenesis due to the Dnmt3a mutations was ameliorated by alendronate or IL-20 neutralization. These results demonstrate a novel source of osteoporosis-inducing inflammation.

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)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.043
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.027
GPT teacher head0.332
Teacher spread0.304 · 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.

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

Citations157
Published2021
Admission routes2
Has abstractyes

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