Evidence map›Paper›PMID 41275133›Full record

ArticleMolecular medicine (Cambridge, Mass.)2025

Integrative analysis of gene expression and histone modifications for DES, DSP, GJA1 and SMOC2 in adipose tissue reveals potential relationship to cardiometabolic health.

Sadia Saeed, Anne Hoffmann, Stina Ingrid Alice Svensson, Tina Visnovska, Tobias Hagemann, Adhideb Ghosh, Christian Wolfrum, Akin Cayir, Tom Mala, Jon A Kristinsson and 3 more

Abstract read
In one paragraph

Article in Molecular medicine (Cambridge, Mass.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Sadia SaeedEpiGen, Medical Division, Akershus University Hospital, Lørenskog, Norway.
Anne HoffmannHelmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München at the University of Leipzig and University Hospital, Leipzig, Germany.
Stina Ingrid Alice SvenssonDepartment of Clinical Molecular Biology, EpiGen, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Tina VisnovskaEpiGen, Medical Division, Akershus University Hospital, Lørenskog, Norway.
Tobias HagemannHelmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München at the University of Leipzig and University Hospital, Leipzig, Germany.
Adhideb GhoshLaboratory of Translational Nutrition Biology, Institute of Food, Nutrition and Health, ETH Zürich, Schwerzenbach, Switzerland.
Christian WolfrumLaboratory of Translational Nutrition Biology, Institute of Food, Nutrition and Health, ETH Zürich, Schwerzenbach, Switzerland.
Akin CayirEpiGen, Medical Division, Akershus University Hospital, Lørenskog, Norway.
Tom MalaDepartment of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway.
Jon A KristinssonDepartment of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway.
Matthias BlüherHelmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München at the University of Leipzig and University Hospital, Leipzig, Germany.
Tone Gretland ValderhaugDepartment of Endocrinology, Akershus University Hospital, Lørenskog, Norway.
Yvonne BöttcherEpiGen, Medical Division, Akershus University Hospital, Lørenskog, Norway. yvonne.bottcher@medisin.uio.no.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAdipose tissue influences cardiometabolic health through its endocrine activity and its role in regulating inflammation, lipid metabolism, and cardiovascular function. The expression of cardiac-associated genes within adipose tissue may reflect or contribute to cardiometabolic risk, yet this relationship remains poorly understood. This study investigates the expression profiles of the cardiac function associated genes GJA1, DES, DSP and SMOC2 in human adipose tissue, and analyses their associations with cardiometabolic traits. Additionally, we explore epigenomic mechanisms that may underlie their differential gene expression.

methodsExpression profiling and functional enrichment analyses were conducted to identify depot-specific cardiac gene expression patterns. Quantitative PCR validated gene expression in paired subcutaneous (SAT) and omental visceral adipose tissue (OVAT) samples from 78 individuals with obesity. Gene expression was further validated in three independent cohorts (N = 1,548 total). Associations with clinical traits were assessed using Spearman correlations and multivariate linear regression, adjusted for age, sex, and BMI. Integration with transcriptomic and proteomic datasets publicly available from the Adipose Tissue Knowledge Portal was performed to strengthen clinical relevance. Epigenomic profiling using genome-wide ChIP-seq for histone marks (H3K4me3, H3K4me1, H3K27ac, H3K27me3) was conducted in paired SAT and OVAT samples from five individuals.

resultsDES, DSP, GJA1, and SMOC2 were significantly upregulated in OVAT compared to SAT. DES, DSP, and SMOC2 showed consistent expression patterns across all cohorts, while GJA1 exhibited context-dependent regulation. Gene expression in SAT was negatively correlated with cardiometabolic traits, including blood pressure, insulin resistance, and liver function markers. These associations were confirmed by regression analysis and supported by publicly available multi-omics data. Epigenetic analyses revealed OVAT-specific enrichment of active histone marks and reduced repressive marks, supporting higher differential transcriptional activity in OVAT.

conclusionsDepot-specific gene expression of DES, DSP, and SMOC2 in adipose tissue is robustly linked to cardiometabolic traits and supported by distinct epigenetic landscapes in OVAT vs SAT, highlighting their potential as novel biomarkers for cardiometabolic health.

Indexed as

Adipose TissueConnexin 43Histone CodeAdultEpigenesis, GeneticFemaleGene Expression ProfilingGene Expression RegulationHistonesHumansMaleMiddle AgedObesityTranscriptomeConnexin 43GJA1 protein, humanHistonesAdipose tissueCardiometabolic healthEpigeneticsGene expressionObesity

Identifiers

PMID41275133
PMCPMC12754950

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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.