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@ARTICLE{Sinke:282598,
author = {Sinke, Lucy and Delerue, Thomas and Wilson, Rory and Lu,
Xueling and Xia, Yujing and Costeira, Ricardo and Nasr, M
Kamal and Beekman, Marian and Franke, Lude and Zhernakova,
Alexandra and Fu, Jingyuan and Gieger, Christian and Herder,
Christian and Koenig, Wolfgang and Peters, Annette and
Ordovas, José M and Dörr, Marcus and Grabe, Hans J and
Nauck, Matthias and Bell, Jordana T and Teumer, Alexander
and Snieder, Harold and Waldenberger, Melanie and Slagboom,
P Eline and Heijmans, Bastiaan T},
title = {{DNA} methylation of genes involved in lipid metabolism
drives adiponectin levels and metabolic disease.},
journal = {Diabetologia},
volume = {69},
number = {1},
issn = {0012-186X},
address = {Heidelberg},
publisher = {Springer},
reportid = {DZNE-2025-01356},
pages = {127 - 145},
year = {2026},
abstract = {Despite playing critical roles in the pathophysiology of
type 2 diabetes and other metabolic disorders, the molecular
mechanisms underlying circulating adipokine levels remain
poorly understood. By identifying genomic regions involved
in the regulation of adipokine levels and adipokine-mediated
disease risk, we can improve our understanding of type 2
diabetes pathogenesis and inter-individual differences in
metabolic risk.We conducted an epigenome-wide meta-analysis
of associations between serum adiponectin (n=2791) and
leptin (n=3661) and leukocyte DNA methylation at over
400,000 CpG sites across five European cohorts. The
resulting methylation signatures were followed up using
functional genomics, integrative analyses and causal
inference methods.Our findings revealed robust associations
with adiponectin at 73 CpGs and leptin at 211 CpGs. Many of
the identified sites were also associated with risk factors
for the metabolic syndrome and located in enhancers close to
relevant transcription factor binding sites. Integrative
analyses additionally linked 35 of the
adiponectin-associated CpGs to the expression of 46 genes,
and 100 of the leptin-associated CpGs to the expression of
151 genes, with implicated genes enriched for lipid
transport (e.g. ABCG1), metabolism (e.g. CPT1A) and
biosynthesis (e.g. DHCR24). Bidirectional two-sample
Mendelian randomisation further identified two specific CpG
sites as plausible drivers of both adiponectin levels and
metabolic health: one annotated to ADIPOQ, the gene encoding
adiponectin; and another linked to the expression of SREBF1,
an established modifier of type 2 diabetes risk known to
exert its effects via adiponectin.Taken together, these
large-scale and integrative analyses uncovered links between
adipokines and widespread, yet functionally specific,
differences in regulation of genes with a central role in
type 2 diabetes and its risk factors.},
keywords = {Humans / Adiponectin: blood / Adiponectin: genetics /
Adiponectin: metabolism / DNA Methylation: genetics / Lipid
Metabolism: genetics / Diabetes Mellitus, Type 2: genetics /
Diabetes Mellitus, Type 2: metabolism / Leptin: blood /
Leptin: genetics / CpG Islands: genetics / Metabolic
Diseases: genetics / Metabolic Diseases: metabolism /
Genome-Wide Association Study / Female / Male / Adiponectin
(Other) / Causal inference (Other) / Epigenomics (Other) /
Leptin (Other) / Lipid metabolism (Other) / Meta-analysis
(Other) / Metabolic health (Other) / Type 2 diabetes (Other)
/ Adiponectin (NLM Chemicals) / Leptin (NLM Chemicals)},
cin = {AG Grabe},
ddc = {610},
cid = {I:(DE-2719)5000001},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41057690},
doi = {10.1007/s00125-025-06549-6},
url = {https://pub.dzne.de/record/282598},
}