ArticleGenetic epidemiology2018
Estimation of a significance threshold for epigenome-wide association studies.
Article in Genetic epidemiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 15 of them syntheses that pooled it.
What it found
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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.
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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.
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Who cites it
104 citing papers in PubMed, 15 syntheses or guidelines pooled it.
- Methylation profile of individuals with sickle cell trait.Epigenetics · 2025Pooled it
- Sex effects on DNA methylation affect discovery in epigenome-wide association study of schizophrenia.Molecular psychiatry · 2024Pooled it
- Epigenome-wide meta-analysis of prenatal maternal stressful life events and newborn DNA methylation.Molecular psychiatry · 2023Pooled it
- DNA methylation sites in early adulthood characterised by pubertal timing and development: a twin study.Clinical epigenetics · 2023Pooled it
- Epigenome-wide DNA methylation in externalizing behaviours: A review and combined analysis.Neuroscience and biobehavioral reviews · 2023Pooled it
- Altered methylation pattern in EXOC4 is associated with stroke outcome: an epigenome-wide association study.Clinical epigenetics · 2022Pooled it
- Epigenetic signatures relating to disease-associated genotypic burden in familial risk of bipolar disorder.Translational psychiatry · 2022Pooled it
- Longitudinal associations of DNA methylation and sleep in children: a meta-analysis.Clinical epigenetics · 2022Pooled it
- Epigenome-wide association study of incident type 2 diabetes: a meta-analysis of five prospective European cohorts.Diabetologia · 2022Pooled it
- Prenatal medication exposure and epigenetic outcomes: a systematic literature review and recommendations for prenatal pharmacoepigenetic studies.Epigenetics · 2022Pooled it
- Maternal anxiety during pregnancy and newborn epigenome-wide DNA methylation.Molecular psychiatry · 2021Pooled it
- Epigenome-Wide Association Study of Thyroid Function Traits Identifies Novel Associations of fT3 With KLF9 and DOT1L.The Journal of clinical endocrinology and metabolism · 2021Pooled it
- Epigenome-wide meta-analysis of DNA methylation differences in prefrontal cortex implicates the immune processes in Alzheimer's disease.Nature communications · 2020Pooled it
- Epigenome-wide meta-analysis of PTSD across 10 military and civilian cohorts identifies methylation changes in AHRR.Nature communications · 2020Pooled it
- Pooled it
- Epigenome-wide association study of psilocybin-induced methylome changes in alcohol use disorder.Translational psychiatry · 2026Trial
- Analyses of child cardiometabolic phenotype following assisted reproductive technologies using a pragmatic trial emulation approach.Nature communications · 2021Trial
- DNA methylation marks associated with body composition in children from India and the Gambia: findings from the EMPHASIS study.Clinical epigenetics · 2026Article
- DNA methylation and gene expression signatures for common childhood infections.Clinical epigenetics · 2026Article
- Maternal Chrono-Nutrition and Placental DNA Methylation: The BiSC Study.Molecular nutrition & food research · 2026Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Epigenome-wide association studies (EWAS) are designed to characterise population-level epigenetic differences across the genome and link them to disease. Most commonly, they assess DNA-methylation status at cytosine-guanine dinucleotide (CpG) sites, using platforms such as the Illumina 450k array that profile a subset of CpGs genome wide. An important challenge in the context of EWAS is determining a significance threshold for declaring a CpG site as differentially methylated, taking multiple testing into account. We used a permutation method to estimate a significance threshold specifically for the 450k array and a simulation extrapolation approach to estimate a genome-wide threshold. These methods were applied to five different EWAS datasets derived from a variety of populations and tissue types. We obtained an estimate of α=2.4×10-7 for the 450k array, and a genome-wide estimate of α=3.6×10-8. We further demonstrate the importance of these results by showing that previously recommended sample sizes for EWAS should be adjusted upwards, requiring samples between ∼10% and ∼20% larger in order to maintain type-1 errors at the desired level.
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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.