Evidence map›Paper›PMID 39747859›Full record

SynthesisNature communications2025

Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank.

Wei Xu, Ines Mesa-Eguiagaray, David M Morris, Chengjia Wang, Calum D Gray, Samuel Sjöström, Giorgos Papanastasiou, Sammy Badr, Julien Paccou, Xue Li and 8 more

Erratum issuedAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
–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

19 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. [Recent Advances in the Interorgan Regulatory Roles of Adipose Tissue].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026
    Pooled it
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  5. Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors.

Wei Xu *Centre for Global Health and Molecular Epidemiology, Usher Institute, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0009-0008-3338-4545
Ines Mesa-Eguiagaray *Centre for Global Health and Molecular Epidemiology, Usher Institute, University of Edinburgh, Edinburgh, UK.
David M MorrisUniversity/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh BioQuarter, 47 Little France Crescent, Edinburgh, UK.
Chengjia WangEdinburgh Imaging, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh BioQuarter, 47 Little France Crescent, Edinburgh, UK.
Calum D GrayEdinburgh Imaging, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh BioQuarter, 47 Little France Crescent, Edinburgh, UK.ORCID http://orcid.org/0000-0002-2816-4707
Samuel SjöströmUniversity/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh BioQuarter, 47 Little France Crescent, Edinburgh, UK.
Giorgos PapanastasiouEdinburgh Imaging, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh BioQuarter, 47 Little France Crescent, Edinburgh, UK.ORCID http://orcid.org/0000-0002-1939-296X
Sammy BadrUniv. Lille, CHU Lille, Marrow Adiposity and Bone Laboratory (MABlab) ULR 4490, Department of Rheumatology, Lille, France.ORCID http://orcid.org/0000-0002-3485-6531
Julien PaccouUniv. Lille, CHU Lille, Marrow Adiposity and Bone Laboratory (MABlab) ULR 4490, Department of Rheumatology, Lille, France.
Xue LiDepartment of Big Data in Health Science, School of Public Health and The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.ORCID http://orcid.org/0000-0001-6880-2577
Paul R H J TimmersMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Maria TimofeevaMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-2503-4253
Susan M FarringtonCancer Research UK Edinburgh Centre, Medical Research Council Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-5955-7389
Malcolm G DunlopCancer Research UK Edinburgh Centre, Medical Research Council Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-3033-5851
Scott I SempleUniversity/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh BioQuarter, 47 Little France Crescent, Edinburgh, UK.
Tom MacGillivrayCentre for Clinical Brain Sciences, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh BioQuarter, 47 Little France Crescent, Edinburgh, UK.ORCID http://orcid.org/0000-0001-5120-0086
Evropi TheodoratouCentre for Global Health and Molecular Epidemiology, Usher Institute, University of Edinburgh, Edinburgh, UK. E.Theodoratou@ed.ac.uk.ORCID http://orcid.org/0000-0001-5887-9132
William P CawthornUniversity/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh BioQuarter, 47 Little France Crescent, Edinburgh, UK. W.Cawthorn@ed.ac.uk.ORCID http://orcid.org/0000-0001-7832-5057

Funding

British Heart Foundation (BHF) FS/4yPhD/F/22/34175CBritish Heart Foundation (BHF) RE/18/5/34216British Heart Foundation (BHF) RG/16/10/32375Cancer Research UK (CRUK) C31250/A22804RCUK | Medical Research Council (MRC) MR/S010505/1
6 · The paper itself

Abstract

Bone marrow adipose tissue is a distinct adipose subtype comprising more than 10% of fat mass in healthy humans. However, the functions and pathophysiological correlates of this tissue are unclear, and its genetic determinants remain unknown. Here, we use deep learning to measure bone marrow adiposity in the femoral head, total hip, femoral diaphysis, and spine from MRI scans of approximately 47,000 UK Biobank participants, including over 41,000 white and over 6300 non-white participants. We then establish the heritability and genome-wide significant associations for bone marrow adiposity at each site. Our meta-GWAS in the white population finds 67, 147, 134, and 174 independent significant single nucleotide polymorphisms, which map to 54, 90, 43, and 100 genes for the femoral head, total hip, femoral diaphysis, and spine, respectively. Transcriptome-wide association studies, colocalization analyses, and sex-stratified meta-GWASes in the white participants further resolve functional and sex-specific genes associated with bone marrow adiposity at each site. Finally, we perform a multi-ancestry meta-GWAS to identify genes associated with bone marrow adiposity across the different bone regions and across ancestry groups. Our findings provide insights into BMAT formation and function and provide a basis to study the impact of BMAT on human health and disease.

Indexed as

AdiposityBiological Specimen BanksBone MarrowDeep LearningGenome-Wide Association StudyPolymorphism, Single NucleotideAdipose TissueAdultAgedFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedUK BiobankUnited Kingdom

Identifiers

PMID39747859
PMCPMC11697225

What OpenQuestion holds

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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.