ArticleClinical epigenetics2022
Characterising sex differences of autosomal DNA methylation in whole blood using the Illumina EPIC array.
Article in Clinical epigenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 2 of them syntheses that pooled it.
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Who cites it
67 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Childhood internalising symptoms at ages 3 and 6: a meta-analysis of epigenome-wide associations from cord and peripheral blood.Journal of child psychology and psychiatry, and allied disciplines · 2026Pooled it
- Sex effects on DNA methylation affect discovery in epigenome-wide association study of schizophrenia.Molecular psychiatry · 2024Pooled it
- Traditional Korean diet high in one-carbon nutrients increases global DNA methylation: implication for epigenetic diet.European journal of nutrition · 2024Trial
- LPS stimulation reveals male and female dimorphism in human iPSC-derived macrophages.iScience · 2026Article
- Promoting intervertebral disc fusion using BMP2, L51P, and the EP4 agonist KMN-159: synergistic osteogenesis in human annulus fibrosus cells.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- Strong concordance of DNA methylation measures between venous and capillary blood - Implications for human epigenome studies.iScience · 2026Article
- Maternal antenatal depression and offspring DNA methylation.Journal of affective disorders · 2026Article
- DNA methylation profiles at hospital admission are associated with subsequent severe COVID-19 outcomes.Clinical epigenetics · 2026Article
- Calcifying nested stromal-epithelial tumor of the liver: Report of two cases revealing novel WT1 mutation and distinct epigenetic features.Virchows Archiv : an international journal of pathology · 2026Article
- An Epigenetic Clock for Accurate Age Prediction in Atlantic Cod Populations for Improved Fisheries Management.Molecular ecology resources · 2026Article
- An atlas of genetic effects on the monocyte methylome across European and African populations.Genome medicine · 2026Article
- Systematic investigation of interindividual variation of DNA methylation in human whole blood.Genome biology · 2026Article
- Changes in Blood DNA CpG Methylation Levels in Response to Methadone Maintenance Treatment: Epigenome-Wide Longitudinal Study.Epigenomes · 2026Article
- Sex-Specific Factors Influencing HIV Infection.Immunological reviews · 2026Review
- A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.Nature cancer · 2026Article
- Article
- B-cell DNA methylation signature in response to hepatitis B virus vaccination in females and males.Frontiers in immunology · 2026Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Whole-genome profiling of age- and sex-associated DNA methylation signatures in human plasma cell-free DNA.Communications medicine · 2025Article
- Epigenetic landscape of hormone-independent sexual dimorphism and characterization of canine XIST.Scientific reports · 2025Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
backgroundSex differences are known to play a role in disease aetiology, progression and outcome. Previous studies have revealed autosomal epigenetic differences between males and females in some tissues, including differences in DNA methylation patterns. Here, we report for the first time an analysis of autosomal sex differences in DNAme using the Illumina EPIC array in human whole blood by performing a discovery (n = 1171) and validation (n = 2471) analysis.
resultsWe identified and validated 396 sex-associated differentially methylated CpG sites (saDMPs) with the majority found to be female-biased CpGs (74%). These saDMP's are enriched in CpG islands and CpG shores and located preferentially at 5'UTRs, 3'UTRs and enhancers. Additionally, we identified 266 significant sex-associated differentially methylated regions overlapping genes, which have previously been shown to exhibit epigenetic sex differences, and novel genes. Transcription factor binding site enrichment revealed enrichment of transcription factors related to critical developmental processes and sex determination such as SRY and ESR1.
conclusionOur study reports a reliable catalogue of sex-associated CpG sites and elucidates several characteristics of these sites using large-scale discovery and validation data sets. This resource will benefit future studies aiming to investigate sex specific epigenetic signatures and further our understanding of the role of DNA methylation in sex differences in human whole blood.
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