Evidence map›Paper›PMID 42121001›Full record

ArticleClinical epigenetics2026

Genome-wide DNA methylation signatures in blood associated with pediatric obesity.

Barbara Slapnik, Robert Šket, Blaž Vrhovšek, Primož Kotnik, Tadej Battelino, Jernej Kovač

Abstract read
In one paragraph

Article in Clinical epigenetics, 2026. 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

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Barbara SlapnikUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Robert ŠketUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Blaž VrhovšekUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Primož KotnikUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Tadej BattelinoUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Jernej KovačUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. jernej.kovac@kclj.si.ORCID http://orcid.org/0000-0003-3080-4838

Funding

The Slovenian Research and Innovation Agency #56916The Slovenian Research and Innovation Agency J3-50122The Slovenian Research and Innovation Agency P3-0343
6 · The paper itself

Abstract

backgroundPediatric obesity is the most prevalent nutritional disorder in children and adolescents and is associated with multiple comorbidities. Understanding epigenetic mechanisms, particularly DNA methylation, offers potential for early risk prediction, prevention, and personalized interventions. In this study, genome-wide DNA methylation profiles in blood from children with obesity and matched controls were compared using Oxford Nanopore Technologies. Two independent analytical tools were applied to identify differentially methylated regions. Clinical data included family history, weight, BMI, and age at first examination. Participants with monogenic obesity, identified via short-read whole-exome sequencing, were excluded.

resultsThe cohort included five girls and five boys with obesity (median age 14.33, IQR 1.65; median BMI SDS 3.42, IQR 0.55) and matched controls (median age 13.94, IQR 0.52; median BMI SDS 0.26, IQR 1.71). Seven consensus differentially methylated regions were consistently identified, overlapping genes involved in metabolism and obesity-related comorbidities. Hypermethylation was observed in PM20D1, PM20D1-AS1, AC119673.2 (26.05% ± 0.78%), and GM2A (33.60% ± 1.10%) in children with obesity, primarily affecting metabolic and adipogenic pathways. Hypomethylation was detected in genes linked to obesity and its comorbidities, including S100A14, S100A16 (- 25.4% ± 0.48%), SNTG2 (- 25.55% ± 0.18%), ADARB2, LINC00200 (- 21.35% ± 0.98%), LRRC32, AP001189.1 (- 27.25%), CBLN3 and KHNYN (- 23.20% ± 0.80%).

conclusionsLong-read genome-wide methylation profiling can detect obesity-associated epigenetic loci in children. Blood-based markers in genes regulating metabolism and obesity comorbidities could support early risk prediction, patient stratification, and targeted prevention. Extending this work to larger and more diverse cohorts will be necessary to evaluate the robustness of these results and their potential translational relevance.

Indexed as

DNA MethylationGenome-Wide Association StudyPediatric ObesityAdolescentBody Mass IndexCase-Control StudiesChildEpigenesis, GeneticFemaleHumansMaleDNA methylationEpigeneticsNanopore sequencingPediatric obesity

Identifiers

PMID42121001
PMCPMC13343863

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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.