Evidence map›Paper›PMID 41781971›Full record

ArticleGenome biology2026

Systematic investigation of interindividual variation of DNA methylation in human whole blood.

Olivia A Grant, Meena Kumari, Leonard Schalkwyk, Nicolae Radu Zabet

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Article in Genome biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers 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

Who cites it

5 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Olivia A GrantSchool of Life Sciences, University of Essex, Wivenhoe Park, Colchester, CO4 3SQ, UK.
Meena KumariInstitute of Social and Economic Research, University of Essex, Wivenhoe Park, Colchester, CO4 3SQ, UK.
Leonard SchalkwykSchool of Life Sciences, University of Essex, Wivenhoe Park, Colchester, CO4 3SQ, UK. lschal@essex.ac.uk.
Nicolae Radu ZabetSchool of Life Sciences, University of Essex, Wivenhoe Park, Colchester, CO4 3SQ, UK. r.zabet@qmul.ac.uk.

Funding

Economic and Social Research Council RES-596-28-0001Medical Research Council MR/W004984/1
6 · The paper itself

Abstract

backgroundInterindividual genetic variability is well characterised, but we still lack a complete catalogue of loci displaying variable and stable epigenetic patterns.

resultsHere, we report a catalogue of stable and variable interindividual DNA methylation sites in human whole blood by analysing the DNA methylation patterns in 3642 individuals from a representative cohort for the British population using the IlluminaEPIC array. Our results show that 34,972 CpGs display variable methylation levels (VMPs) and 41,216 CpGs display stable methylation. Human whole blood is a widely used tissue in epigenetic research, particularly in Epigenome-Wide Association Studies, due to its accessibility and its ability to provide insights into systemic biological processes and disease mechanisms. This catalogue is a useful resource for interpretation of results when associating epigenetic signals to phenotypes. VMPs are highly enriched in CpG shores, enhancers and intergenic regions and approximately half of the VMPs are under genetic control. Our results also showed that trans mQTL-mCpG pairs (that is a SNP and CpG located > 500bp apart) are often located in the same TAD or connected by chromatin loops. A subset of these VMPs (784) are classified as putative epialleles and there is a link between some of these epialleles located in regulatory regions and gene expression.

conclusionsOur study provides of a comprehensive and reliable catalogue of CpG sites displaying variable interindividual DNA methylation across the human epigenome.

Indexed as

DNA MethylationGenetic VariationCpG IslandsEpigenesis, GeneticFemaleHumansMalePolymorphism, Single NucleotideQuantitative Trait LociCis-regulatory regionsDNA methylationEpigenetic interindividual variationTranscription factors

Identifiers

PMID41781971
PMCPMC13069719

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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.