Evidence map›Paper›PMID 34863305›Full record

ReviewClinical epigenetics2021

Epigenome-wide association studies: current knowledge, strategies and recommendations.

Maria Pia Campagna, Alexandre Xavier, Jeannette Lechner-Scott, Vicky Maltby, Rodney J Scott, Helmut Butzkueven, Vilija G Jokubaitis, Rodney A Lea

Registry-linked trialAbstract readReview
In one paragraph

Review in Clinical epigenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05779904 (DNA Methylation, Microbiome Profile, Nutritional Status, and Developmental Outcomes of Stunted and Non-stunted Children Growing up During Covid-19 Pandemic), which is not on this map. Cited by 131 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
131citing papers in PubMed, 6 pooled it
–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.

NCT05779904 unknown statusnot on this mapstarted 2023, after this paper: background citation

DNA Methylation, Microbiome Profile, Nutritional Status, and Developmental Outcomes of Stunted and Non-stunted Children Growing up During Covid-19 Pandemic: a Case-control Study

TypeobservationalSponsorSEAMEO Regional Centre for Food and NutritionRan2023 to 2024Enrolled300ConditionsStunting, Development, Child, DNA Methylation, Epigenetics
3 · Its place in the literature

Who cites it

131 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Epigenetic Mechanisms in Childhood Obesity.Annals of the New York Academy of Sciences · 2025
    Pooled it
  4. Pooled it
  5. Pooled it
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  7. Article
  8. Article
  9. Article
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  11. Article
  12. Cooperative care influences genome-wide levels of DNA methylation in nestling chestnut-crowned babblers.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2026
    Article
  13. [Applications and Challenges of Deep Learning in Human Genome Research].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026
    Review
  14. Article
  15. Article
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  17. Functional Genomics Studies of Psychiatric Disorders in Individuals of Latin American Populations: A Scoping Review.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
    Article
  18. Article
  19. Article
  20. Article

71 more citing papers are in PubMed but not listed here.

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

8 authors.

Maria Pia CampagnaDepartment of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia.
Alexandre XavierCentre for Information Based Medicine, Hunter Medical Research Institute, Newcastle, Australia.
Jeannette Lechner-ScottSchool of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, Australia.
Vicky MaltbyCentre for Information Based Medicine, Hunter Medical Research Institute, Newcastle, Australia.
Rodney J ScottCentre for Information Based Medicine, Hunter Medical Research Institute, Newcastle, Australia.
Helmut ButzkuevenDepartment of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia.
Vilija G JokubaitisDepartment of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia.
Rodney A LeaSchool of Biomedical Sciences and Pharmacy, University of Newcastle, Newcastle, Australia. rodney.lea@qut.edu.au.ORCID 0000-0002-1148-5862

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aetiology and pathophysiology of complex diseases are driven by the interaction between genetic and environmental factors. The variability in risk and outcomes in these diseases are incompletely explained by genetics or environmental risk factors individually. Therefore, researchers are now exploring the epigenome, a biological interface at which genetics and the environment can interact. There is a growing body of evidence supporting the role of epigenetic mechanisms in complex disease pathophysiology. Epigenome-wide association studies (EWASes) investigate the association between a phenotype and epigenetic variants, most commonly DNA methylation. The decreasing cost of measuring epigenome-wide methylation and the increasing accessibility of bioinformatic pipelines have contributed to the rise in EWASes published in recent years. Here, we review the current literature on these EWASes and provide further recommendations and strategies for successfully conducting them. We have constrained our review to studies using methylation data as this is the most studied epigenetic mechanism; microarray-based data as whole-genome bisulphite sequencing remains prohibitively expensive for most laboratories; and blood-based studies due to the non-invasiveness of peripheral blood collection and availability of archived DNA, as well as the accessibility of publicly available blood-cell-based methylation data. Further, we address multiple novel areas of EWAS analysis that have not been covered in previous reviews: (1) longitudinal study designs, (2) the chip analysis methylation pipeline (ChAMP), (3) differentially methylated region (DMR) identification paradigms, (4) methylation quantitative trait loci (methQTL) analysis, (5) methylation age analysis and (6) identifying cell-specific differential methylation from mixed cell data using statistical deconvolution.

Indexed as

Genome-Wide Association StudyHumansResearch DesignBioinformaticsChAMPComplex diseasesEpigeneticsEWASMethylation

Identifiers

PMID34863305
PMCPMC8645110

What OpenQuestion holds

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Registered trials

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.