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Pooled two-cohort MRI body composition phenotyping with open-source deep learning

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Item Type:Article
Title:Pooled two-cohort MRI body composition phenotyping with open-source deep learning
Creators: Mertens, Christian J. ORCID logoORCID: https://orcid.org/0000-0001-7303-2650, Häntze, Hartmut ORCID logoORCID: https://orcid.org/0000-0002-6204-571X, Ziegelmayer, Sebastian, Kather, Jakob Nikolas ORCID logoORCID: https://orcid.org/0000-0002-3730-5348, Truhn, Daniel ORCID logoORCID: https://orcid.org/0000-0002-9605-0728, Kim, Su Hwan ORCID logoORCID: https://orcid.org/0000-0002-5383-2041, Busch, Felix ORCID logoORCID: https://orcid.org/0000-0001-9770-8555, Weller, Dominik, Wiestler, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-2963-7772, Graf, Markus, Bamberg, Fabian, Schlett, Christopher L., Weiss, Jakob B., Ringhof, Steffen ORCID logoORCID: https://orcid.org/0000-0003-1823-1037, Can, Elif ORCID logoORCID: https://orcid.org/0000-0001-5319-7570, Schulz-Menger, Jeanette ORCID logoORCID: https://orcid.org/0000-0003-3100-1092, Niendorf, Thoralf ORCID logoORCID: https://orcid.org/0000-0001-7584-6527, Lammert, Jacqueline, Molwitz, Isabel, Kader, Avan, Hering, Alessa ORCID logoORCID: https://orcid.org/0000-0002-7602-803X, Meddeb, Aymen, Nawabi, Jawed, Schulze, Matthias B. ORCID logoORCID: https://orcid.org/0000-0002-0830-5277, Keil, Thomas ORCID logoORCID: https://orcid.org/0000-0002-9108-3360, Willich, Stefan N., Krist, Lilian, Hadamitzky, Martin, Hannemann, Anke ORCID logoORCID: https://orcid.org/0000-0003-4420-5449, Bassermann, Florian ORCID logoORCID: https://orcid.org/0000-0003-4435-2609, Rueckert, Daniel ORCID logoORCID: https://orcid.org/0000-0002-5683-5889, Pischon, Tobias ORCID logoORCID: https://orcid.org/0000-0003-1568-767X, Hapfelmeier, Alexander, Makowski, Marcus R. ORCID logoORCID: https://orcid.org/0000-0001-8778-647X, Bressem, Keno K. and Adams, Lisa C. ORCID logoORCID: https://orcid.org/0000-0001-5836-4542
Abstract:BACKGROUND: Body mass index fails to capture variation in fat and muscle distribution that determines metabolic health and disease risk. MRI enables radiation-free quantification of regional body composition, yet scalable open-source tools applied in pooled cohorts with differing acquisition protocols have been lacking. METHODS: MRSegmentator, an open-source nnU-Net-based pipeline, was applied to quantify visceral adipose tissue (VAT), abdominal subcutaneous adipose tissue (ASAT), gluteofemoral adipose tissue (GFAT), trunk musculature, and the liver mask used for liver fat-fraction estimation in 45,851 adults from the German National Cohort (n = 26,877, 3 T multi-centre Siemens) and UK Biobank (n = 18,974, 1.5 T Siemens). Population-scale compartment volumes were segmented from stitched in-phase gradient-echo (GRE) images in both cohorts; liver fat fraction was calculated from fat-only and water-only images. The annotated development data comprised NAKO T2-HASTE and UKB Dixon reconstructions. A single pooled model was applied without site-specific adaptation. A separate two-reader agreement study used 50 scans from these annotated development-sequence domains. Associations between BMI-adjusted body composition and cardiometabolic conditions were estimated using generalized linear mixed-effects models. Incremental discrimination beyond age, BMI, and waist-to-hip ratio was assessed. RESULTS: Five-fold participant-stratified internal cross-validation against curated human-in-the-loop development references comprising UKB Dixon and NAKO T2-HASTE yielded a mean Dice of 0.91. In a separate 50-scan reader study on these annotated development-sequence images, overall reader-reader Dice was 0.937 and overall algorithm-reader Dice was 0.908. The trained pipeline was then used to segment compartment volumes from stitched in-phase GRE inputs in both cohorts, while liver fat fraction was calculated from fat-only and water-only images; direct sequence-matched validation on NAKO GRE was not performed. VAT showed the strongest positive associations with cardiometabolic conditions, while GFAT showed inverse associations, most prominently for type 2 diabetes (OR 0.69, 95% CI 0.66 to 0.72). Disease-specific body-composition phenotypes were identified, with type 2 diabetes characterized by elevated VAT, reduced GFAT, and increased liver fat. MRI-derived compartments modestly improved discrimination for type 2 diabetes and hyperlipidemia beyond anthropometric measures. CONCLUSIONS: A single open-source deep-learning pipeline enabled pooled body-composition phenotyping in two cohorts and captured distributional variation in fat and muscle beyond BMI. High agreement in internal cross-validation (mean Dice 0.91) and the separate two-reader study support the annotated development-sequence analysis, while the population-scale application identified distinct disease-associated phenotypes and modest incremental discrimination beyond conventional anthropometry.
Source:Communications Medicine
ISSN:2730-664X
Publisher:Springer Nature
Volume:6
Number:1
Page Range:467
Date:29 August 2026
Official Publication:https://doi.org/10.1038/s43856-026-01888-w
PubMed:View item in PubMed
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