Deep Learning Reveals Liver MRI Features Associated With <i>PNPLA3</i> I148M in Steatotic Liver Disease
Our study marks novel progress in the non-invasive detection of homozygosity for PNPLA3 I148M through the application of deep learning models on MRI images. Our findings suggest that PNPLA3 I148M might affect the liver fat distribution and could be used to predict the presence of PNPLA3 variants in patients with fatty liver. The findings of this research have the potential to be integrated into standard clinical practice, particularly when combined with clinical and biochemical data from other modalities to increase accuracy, enabling easier identification of at-risk individuals and facilitating the development of tailored interventions for PNPLA3 I148M-associated liver disease.
Authors
- Tobias Seibel (ORCID: https://orcid.org/0009-0004-9115-3228)
- Daniel Truhn (ORCID: https://orcid.org/0000-0002-9605-0728)
- Diego Hernando (ORCID: https://orcid.org/0000-0002-0016-0317)
- Kai Markus Schneider (ORCID: https://orcid.org/0000-0002-0047-3794)
- Yuanyuan Liu
- Jan Clusmann (ORCID: https://orcid.org/0000-0003-2925-8438)
- Carolin Victoria Schneider (ORCID: https://orcid.org/0000-0002-6728-9246)
- Benjamin P. M. Laevens (ORCID: https://orcid.org/0000-0001-9339-902X)
- Feng Cao (ORCID: https://orcid.org/0000-0003-1604-1723)
- Luca Valenti (ORCID: https://orcid.org/0000-0001-8909-0345)
- Joel Joy
- Rohit Seth Loomba (ORCID: https://orcid.org/0000-0002-4845-9991)
- Yazhou Chen (ORCID: https://orcid.org/0009-0005-9893-645X)
- Gustav Müller‐Franzes (ORCID: https://orcid.org/0000-0002-7413-2570)
- Ivan G. Costa (ORCID: https://orcid.org/0000-0003-2890-8697)
- Moritz Herzog (ORCID: https://orcid.org/0000-0002-6706-3351)
- Jakob Nikolas Kather (ORCID: https://orcid.org/0000-0002-3730-5348)
- Titus Josef Brinker (ORCID: https://orcid.org/0000-0002-3620-5919)
- Rongpeng Gong
- Paul‐Henry Koop (ORCID: https://orcid.org/0009-0004-2846-703X)
- Simon Schophaus (ORCID: https://orcid.org/0009-0004-4767-9775)
- Teresa Lemainque
- Felix van Haag (ORCID: https://orcid.org/0009-0007-4586-7133)
- Carola Dlugosch
- Anastasia Raptis
- Thriveni Basavanapura Raju
- Niharika Jakhar
Institutions
- University of Wisconsin–Madison (US)
- German Cancer Research Center (DE)
- University of Milan (IT)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- University of California San Diego (US)
- National Center for Tumor Diseases (DE)
- University Hospital Carl Gustav Carus (DE)
- RWTH Aachen University (DE)
Publication Details
- Journal
- Liver International
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1111/liv.70164
- Citations
- 5
- Primary Topic
- Liver Disease Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 6.77
Funders
- Australian Government
- National Institute for Health and Care Research
- Department of Health and Social Care
- European Commission
- Deutscher Akademischer Austauschdienst
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Deutsche Krebshilfe
- RWTH Aachen University
- Gemeinsame Bundesausschuss
- National Institutes of Health
- HORIZON EUROPE Framework Programme
- Leeds Biomedical Research Centre
- National Heart, Lung, and Blood Institute
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Center for Advancing Translational Sciences