Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age acceleration

Abstract Background Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease worldwide, but its pathophysiological mechanisms remain elusive. It is a progressive disease, encompassing hepatic steatosis, steatohepatitis with (out) fibrosis, and ultimat...

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Main Authors: Evelien Van Dijck, Steven Van Laere, Emilie Logie, Steven Timmermans, Erik Fransen, Joe Ibrahim, Timothy J. Kendall, Jonathan A. Fallowfield, Ligia M. Mateiu, Claude Libert, Guy Van Camp, An Verrijken, Luc Van Gaal, Sven Francque, Wim Van Hul, Wim Vanden Berghe
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Clinical Epigenetics
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Online Access:https://doi.org/10.1186/s13148-025-01945-6
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author Evelien Van Dijck
Steven Van Laere
Emilie Logie
Steven Timmermans
Erik Fransen
Joe Ibrahim
Timothy J. Kendall
Jonathan A. Fallowfield
Ligia M. Mateiu
Claude Libert
Guy Van Camp
An Verrijken
Luc Van Gaal
Sven Francque
Wim Van Hul
Wim Vanden Berghe
author_facet Evelien Van Dijck
Steven Van Laere
Emilie Logie
Steven Timmermans
Erik Fransen
Joe Ibrahim
Timothy J. Kendall
Jonathan A. Fallowfield
Ligia M. Mateiu
Claude Libert
Guy Van Camp
An Verrijken
Luc Van Gaal
Sven Francque
Wim Van Hul
Wim Vanden Berghe
author_sort Evelien Van Dijck
collection DOAJ
description Abstract Background Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease worldwide, but its pathophysiological mechanisms remain elusive. It is a progressive disease, encompassing hepatic steatosis, steatohepatitis with (out) fibrosis, and ultimately cirrhosis and hepatocellular carcinoma. DNA methylation (DNAm) is dysregulated in MASLD and may play a central role in its pathogenesis. Additionally, aging is associated with MASLD and shares common processes of chronic inflammation and oxidative stress. Therefore, this study focuses on DNAm changes in relation to MASLD progression and epigenetic age acceleration (EAA). Results Liver biopsies from 22 individuals with varying MASLD status were analyzed using Infinium MethylationEPIC BeadChip arrays. Strikingly, progression of MASLD was characterized by gradual DNAm changes, revealing multiple associated KEGG pathways. Additionally, Horvath’s EAA significantly correlated with MASLD stage and individual histological MASLD parameters while LiverClock’s EAA correlated only with MASLD stage. In contrast, both Horvath’s intrinsic EAA and HepClock’s EAA showed no significant correlations. Integrative analyses, leveraging both gradual MASLD and Horvath’s EAA DNAm signatures, gene expression (n = 118), and a MASLD-specific transcriptional regulatory network, identified (regulon-specific) transcription factors implicated in MASLD and EAA progression, representing a transcription factor-network of redox (ferroptosis), immune, and metabolic/endocrine related epigenetic processes. Conclusion Gradual DNAm changes were found to align with progression of MASLD and EAA, with EAA a potential nonbiased quantitative biomarker for MASLD. Integrative analysis highlighted potential new therapeutic transcription factor targets, with special emphasis on AEBP1 and emerging nuclear receptors including CAR(NR1I3), MR(NR3C2), GR(NR3C1), and ESRRG, underscoring the potential of epigenetic redox-metabolic therapies for MASLD. Graphical abstract
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spelling doaj-art-572f4a3e8a884c2ba95d15f663fb1ded2025-08-20T03:45:57ZengBMCClinical Epigenetics1868-70832025-08-0117112210.1186/s13148-025-01945-6Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age accelerationEvelien Van Dijck0Steven Van Laere1Emilie Logie2Steven Timmermans3Erik Fransen4Joe Ibrahim5Timothy J. Kendall6Jonathan A. Fallowfield7Ligia M. Mateiu8Claude Libert9Guy Van Camp10An Verrijken11Luc Van Gaal12Sven Francque13Wim Van Hul14Wim Vanden Berghe15Cell Death Signaling–Epigenetics Lab, Department Biomedical Sciences, University of AntwerpCenter for Oncological Research (CORE), Integrated Personalized and Precision Oncology Network (IPPON), University of AntwerpCell Death Signaling–Epigenetics Lab, Department Biomedical Sciences, University of AntwerpCenter for Inflammation Research, Vlaams Instituut Voor Biotechnologie (VIB)Centre of Medical Genetics, University of AntwerpCentre of Medical Genetics, University of AntwerpCentre for Inflammation Research, Institute for Regeneration and Repair, University of EdinburghCentre for Inflammation Research, Institute for Regeneration and Repair, University of EdinburghCentre of Medical Genetics, University of AntwerpCenter for Inflammation Research, Vlaams Instituut Voor Biotechnologie (VIB)Centre of Medical Genetics, University of AntwerpDepartment of Endocrinology, Diabetology and Metabolic Diseases, Antwerp University HospitalDepartment of Endocrinology, Diabetology and Metabolic Diseases, Antwerp University HospitalDepartment of Gastroenterology and Hepatology, Antwerp University HospitalCentre of Medical Genetics, University of AntwerpCell Death Signaling–Epigenetics Lab, Department Biomedical Sciences, University of AntwerpAbstract Background Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease worldwide, but its pathophysiological mechanisms remain elusive. It is a progressive disease, encompassing hepatic steatosis, steatohepatitis with (out) fibrosis, and ultimately cirrhosis and hepatocellular carcinoma. DNA methylation (DNAm) is dysregulated in MASLD and may play a central role in its pathogenesis. Additionally, aging is associated with MASLD and shares common processes of chronic inflammation and oxidative stress. Therefore, this study focuses on DNAm changes in relation to MASLD progression and epigenetic age acceleration (EAA). Results Liver biopsies from 22 individuals with varying MASLD status were analyzed using Infinium MethylationEPIC BeadChip arrays. Strikingly, progression of MASLD was characterized by gradual DNAm changes, revealing multiple associated KEGG pathways. Additionally, Horvath’s EAA significantly correlated with MASLD stage and individual histological MASLD parameters while LiverClock’s EAA correlated only with MASLD stage. In contrast, both Horvath’s intrinsic EAA and HepClock’s EAA showed no significant correlations. Integrative analyses, leveraging both gradual MASLD and Horvath’s EAA DNAm signatures, gene expression (n = 118), and a MASLD-specific transcriptional regulatory network, identified (regulon-specific) transcription factors implicated in MASLD and EAA progression, representing a transcription factor-network of redox (ferroptosis), immune, and metabolic/endocrine related epigenetic processes. Conclusion Gradual DNAm changes were found to align with progression of MASLD and EAA, with EAA a potential nonbiased quantitative biomarker for MASLD. Integrative analysis highlighted potential new therapeutic transcription factor targets, with special emphasis on AEBP1 and emerging nuclear receptors including CAR(NR1I3), MR(NR3C2), GR(NR3C1), and ESRRG, underscoring the potential of epigenetic redox-metabolic therapies for MASLD. Graphical abstracthttps://doi.org/10.1186/s13148-025-01945-6MASLDEpigeneticsDNA methylationEpigenetic ageEpigenetic age accelerationTranscription factor
spellingShingle Evelien Van Dijck
Steven Van Laere
Emilie Logie
Steven Timmermans
Erik Fransen
Joe Ibrahim
Timothy J. Kendall
Jonathan A. Fallowfield
Ligia M. Mateiu
Claude Libert
Guy Van Camp
An Verrijken
Luc Van Gaal
Sven Francque
Wim Van Hul
Wim Vanden Berghe
Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age acceleration
Clinical Epigenetics
MASLD
Epigenetics
DNA methylation
Epigenetic age
Epigenetic age acceleration
Transcription factor
title Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age acceleration
title_full Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age acceleration
title_fullStr Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age acceleration
title_full_unstemmed Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age acceleration
title_short Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age acceleration
title_sort gradual dna methylation changes reveal transcription factors implicated in metabolic dysfunction associated steatotic liver disease progression and epigenetic age acceleration
topic MASLD
Epigenetics
DNA methylation
Epigenetic age
Epigenetic age acceleration
Transcription factor
url https://doi.org/10.1186/s13148-025-01945-6
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