Evidence map›Paper›PMID 38564759›Full record

ArticleEpigenetics2024

Critical evaluation of the reliability of DNA methylation probes on the Illumina MethylationEPIC v1.0 BeadChip microarrays.

Wei Zhang, Juan I Young, Lissette Gomez, Michael A Schmidt, David Lukacsovich, Achintya Varma, X Steven Chen, Brian Kunkle, Eden R Martin, Lily Wang

Abstract read
In one paragraph

Article in Epigenetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

  1. Article
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  10. Review
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  14. Blood DNA methylation signature for incident dementia: Evidence from longitudinal cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  15. Article
  16. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Wei ZhangDivision of Biostatistics, Department of Public Health Sciences, University of Miami, Miller School of Medicine, Miami, FL, USA.
Juan I YoungDr. John T MacDonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Lissette GomezJohn P. Hussman Institute for Human Genomics, the University of Miami Miller School of Medicine, Miami, FL, USA.
Michael A SchmidtJohn P. Hussman Institute for Human Genomics, the University of Miami Miller School of Medicine, Miami, FL, USA.
David LukacsovichDivision of Biostatistics, Department of Public Health Sciences, University of Miami, Miller School of Medicine, Miami, FL, USA.
Achintya VarmaJohn P. Hussman Institute for Human Genomics, the University of Miami Miller School of Medicine, Miami, FL, USA.
X Steven ChenDivision of Biostatistics, Department of Public Health Sciences, University of Miami, Miller School of Medicine, Miami, FL, USA.
Brian KunkleDr. John T MacDonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Eden R MartinDr. John T MacDonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Lily WangDivision of Biostatistics, Department of Public Health Sciences, University of Miami, Miller School of Medicine, Miami, FL, USA.

Funding

Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0M
Integrative Genomic Approaches for Understanding Sex Differences in Alzheimer's DiseaseR01AG062634 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI KUNKLE, BRIAN WILLIAM, MARTIN, EDEN R. · 2019 to 2023
$3.8M
New computational tools for understanding and predicting AD via age-associated DNA methylation changesRF1NS128145 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI WANG, LILY · 2022 to 2022
$2.0M
Building blood based DNA methylation signatures for AD that are reflective of CNS changesRF1AG061127 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI WANG, LILY · 2019 to 2019
$1.9M
New DNA methylation biomarkers for predicting AD and cognitive declineR61NS135587 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI WANG, LILY · 2024 to 2025
$1.5M
NIA NIH HHS R01 AG062634NIA NIH HHS RF1 AG061127NIA NIH HHS U01 AG024904NINDS NIH HHS R61 NS135587NINDS NIH HHS RF1 NS128145
6 · The paper itself

Abstract

DNA methylation (DNAm) plays a crucial role in a number of complex diseases. However, the reliability of DNAm levels measured using Illumina arrays varies across different probes. Previous research primarily assessed probe reliability by comparing duplicate samples between the 450k-450k or 450k-EPIC platforms, with limited investigations on Illumina EPIC v1.0 arrays. We conducted a comprehensive assessment of the EPIC v1.0 array probe reliability using 69 blood DNA samples, each measured twice, generated by the Alzheimer's Disease Neuroimaging Initiative study. We observed higher reliability in probes with average methylation beta values of 0.2 to 0.8, and lower reliability in type I probes or those within the promoter and CpG island regions. Importantly, we found that probe reliability has significant implications in the analyses of Epigenome-wide Association Studies (EWAS). Higher reliability is associated with more consistent effect sizes in different studies, the identification of differentially methylated regions (DMRs) and methylation quantitative trait locus (mQTLs), and significant correlations with downstream gene expression. Moreover, blood DNAm measurements obtained from probes with higher reliability are more likely to show concordance with brain DNAm measurements. Our findings, which provide crucial reliability information for probes on the EPIC v1.0 array, will serve as a valuable resource for future DNAm studies.

Indexed as

DNA MethylationQuantitative Trait LociCpG IslandsOligonucleotide Array Sequence AnalysisReproducibility of ResultsDNA methylationEPIC v1.0 arrayprobe reliability

Identifiers

PMID38564759
PMCPMC10989698

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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 OpenQuestion graph.