Evidence mapPaperPMID 42390000Full record

ReviewMolecular biology and evolution2026

Population epigenetics: deciphering DNA methylation diversity and its implications for health, disease, and evolution.

Shuangshuang Cheng, Shuhua Xu

Abstract readReview
In one paragraph

Review in Molecular biology and evolution, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Shuangshuang ChengState Key Laboratory of Genetics and Development of Complex Phenotypes, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0009-0006-6074-5030
Shuhua XuState Key Laboratory of Genetics and Development of Complex Phenotypes, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0000-0002-1975-1002

Funding

Fund of Fudan University and Cao'ejiang Basic Research 24FCB08Ministry of Education of China JYB2025XDXM508National Key Research and Development Program of China 2023YFC2605400National Natural Science Foundation of China (NSFC) 32288101Shanghai Science and Technology Commission Program 23JS1410100Shanghai Science and Technology Commission Program 25JS2810100
6 · The paper itself

Abstract

Population epigenetics investigates the distribution, determinants, and evolutionary significance of epigenetic variation, particularly DNA methylation (DNAm), within and among human populations. In this review, we synthesize recent advances in population epigenetics with an explicit evolutionary perspective, focusing on 3 interconnected dimensions. First, we outline patterns of DNAm variation, including tissue-, cell-, and developmental-stage specificity. Second, we examine the sources of DNAm variation, highlighting population-specific methylation quantitative trait loci, ancestry-related genetic architecture, and environmental modulators such as diet, climate, pollution, and lifestyle. Third, we explore evolutionary and clinical implications, linking DNAm variation to phenotypic plasticity, disease susceptibility, and adaptive processes shaped by natural selection. Comparative population studies demonstrate that genetic ancestry accounts for a substantial proportion of DNAm differentiation, reflecting the joint effects of allele-frequency divergence, linkage disequilibrium structure, and demographic history. At the same time, environmentally induced methylation changes introduce a dynamic and rapidly responsive layer of molecular diversity that can mediate short-term adaptation to local environments. Despite rapid progress, key challenges remain, including disentangling genetic, environmental, and technical confounders, assessing the stability and heritability of population-specific DNAm patterns, and establishing causal links between methylation, fitness-related traits, and selection. Looking ahead, advances in large-scale multi-ancestry cohorts, single-cell and long-read epigenomics, and integrative multi-omics will enable high-resolution mapping of epigenetic variation across populations. By bridging evolutionary theory, epigenetic epidemiology, and functional genomics, population epigenetics offers a powerful framework for understanding human adaptation, health disparities, and precision medicine in an evolutionary context.

Indexed as

DNA MethylationEpigenesis, GeneticBiological EvolutionEpigenomicsEvolution, MolecularGenetics, PopulationGenetic VariationHumansQuantitative Trait LociSelection, GeneticDNA methylationenvironmentevolutiongeneticspopulation epigeneticsspecificity

Identifiers

PMID42390000
PMCPMC13381286

What Socratic holds

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Registered trials

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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 Socratic graph.