ArticleGenome biology2023
Systemic interindividual epigenetic variation in humans is associated with transposable elements and under strong genetic control.
Article in Genome biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Regulation of nc886 (vtRNA2-1) RNAs is associated with cardiometabolic risk factors and diseases.Clinical epigenetics · 2025Pooled it
- Epigenetic alterations in patients with anorexia nervosa-a systematic review.Molecular psychiatry · 2024Pooled it
- Translational toxicoepigenetic Meta-Analyses identify homologous gene DNA methylation reprogramming following developmental phthalate and lead exposure in mouse and human offspring.Environment international · 2024Pooled it
- Differential methylation at novel putative imprinting control regions on chromosome 20 associated with childhood obesity.Epigenetics · 2026Article
- Epigenetic insights into fertility: involvement of immune cell methylation in dairy cows reproduction†.Biology of reproduction · 2026Article
- The Potential Physiologic Mechanisms by Which Early-Life Nutrition May Influence Type 2 Diabetes Pathophysiology in Humans.Annual review of nutrition · 2026Review
- DNA methylation as proxy of genetic, prenatal and perinatal psychiatric risk factors.medRxiv : the preprint server for health sciences · 2026Article
- Pathway-level epigenetic modeling illuminates the methylation architecture to asthma risk across tissues.Epigenetics & chromatin · 2026Article
- CpG Atlas: A centralized multi-layer database and AI interface for DNA methylation research.bioRxiv : the preprint server for biology · 2026Article
- An epigenetic framework for understanding contextual influences on neural and socio-emotional development: Narrative review and case-study of the oxytocin receptor.Developmental cognitive neuroscience · 2026Review
- Smoking drives an epigenetic memory of aberrant hematopoiesis.medRxiv : the preprint server for health sciences · 2026Article
- Decoding NEC: epigenetic biomarkers for risk stratification and prognosis.Pediatric research · 2026Article
- Systematic investigation of interindividual variation of DNA methylation in human whole blood.Genome biology · 2026Article
- The role of KRAB zinc-finger proteins in expanding the domestication potential of transposable elements.Nature genetics · 2026Review
- DNA Methylation as a Mediator of Cardiovascular Disease Risk in Relation to PTSD Severity: Identification of Potential Epigenetic Biomarkers.medRxiv : the preprint server for health sciences · 2026Article
- Emerging opportunities for DNA methylation biomarkers in cattle improvement.The Journal of reproduction and development · 2026Review
- Changes in nuclear and mitochondrial DNA methylation in cow blood associated with age and disease.Epigenetics · 2025Article
- In-utero exposure to maternal diabetes and DNA methylation alterations in the Next Generation birth cohort.Clinical epigenetics · 2025Article
- Scalable screening of ternary-code DNA methylation dynamics associated with human traits.Cell genomics · 2025Article
- Mouse metastable epialleles are extremely rare.Nucleic acids research · 2025Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundGenetic variants can modulate phenotypic outcomes via epigenetic intermediates, for example at methylation quantitative trait loci (mQTL). We present the first large-scale assessment of mQTL at human genomic regions selected for interindividual variation in CpG methylation, which we call correlated regions of systemic interindividual variation (CoRSIVs). These can be assayed in blood DNA and do not reflect interindividual variation in cellular composition.
resultsWe use target-capture bisulfite sequencing to assess DNA methylation at 4086 CoRSIVs in multiple tissues from each of 188 donors in the NIH Gene-Tissue Expression (GTEx) program. At CoRSIVs, DNA methylation in peripheral blood correlates with methylation and gene expression in internal organs. We also discover unprecedented mQTL at these regions. Genetic influences on CoRSIV methylation are extremely strong (median R
conclusionsA focus on systemic interindividual epigenetic variants, clearly enhanced in mQTL content, should likewise benefit studies attempting to link human epigenetic variation to the risk of disease.
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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.