ArticleScientific reports2023
Expression quantitative trait methylation analysis elucidates gene regulatory effects of DNA methylation: the Framingham Heart Study.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
27 citing papers in PubMed, 3 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Methylation profile of individuals with sickle cell trait.Epigenetics · 2025Pooled it
- Epigenome-wide DNA methylation association study of CHIP provides insight into perturbed gene regulation.Nature communications · 2025Pooled it
- Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis.Epigenetics · 2023Pooled it
- Effects of 6-months of SSRI use on DNA-methylation and gene expression in blood.Brain, behavior, and immunity · 2026Trial
- Epigenome-Wide Association Study of Abdominal Aortic Aneurysm Identifies Central Role for Inflammatory Pathways.Circulation · 2026Article
- Expression quantitative trait methylation across multiple cancer types with functional and therapeutic characterization using Onco-eQTM.NAR genomics and bioinformatics · 2026Article
- Genome-wide DNA methylation analysis revealed epigenetic mechanism underlying end-stage renal disease.Nature communications · 2026Article
- Strong concordance of DNA methylation measures between venous and capillary blood - Implications for human epigenome studies.iScience · 2026Article
- eQTM (expression quantitative trait methylation) Atlas: a comprehensive resource of over 11 million DNA methylation-gene expression associations through across 11 tissues and 4 diseases.bioRxiv : the preprint server for biology · 2026Article
- Multivariate mendelian randomization for joint inferences of correlated outcomes.European journal of epidemiology · 2026Article
- Estimating in silico causal effects of DNA methylation on gene expression through genetic anchors in airway epithelium in asthma.Science advances · 2026Article
- Trimethylamine N-oxide and related metabolites may regulate DNA methylation and trigger cardiovascular disease.Clinical epigenetics · 2026Article
- Epigenetics in Abdominal Aortic Aneurysm: Mechanisms and Risk Prediction.medRxiv : the preprint server for health sciences · 2026Article
- Epigenome-wide analysis identifies DNA methylation mediators of treatment-related cardiometabolic risk in survivors of childhood cancer.Nature communications · 2026Article
- Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy.Nature communications · 2025Article
- PathwayVote: an R package for robust pathway enrichment analysis for DNA methylation data using a consensus-based voting framework.Bioinformatics (Oxford, England) · 2025Article
- DNA Methylation Signatures of Cardiovascular Health Provide Insights Into Diseases.Circulation · 2025Article
- Identification of reactive CpGs and RNA expression in early COVID-19 through cis-eQTM analysis reflecting disease severity and recovery.Communications biology · 2025Article
- Epigenetic mechanisms underlying variation of IL-6, a well-established inflammation biomarker and risk factor for cardiovascular disease.Atherosclerosis · 2025Article
- Alterations in DNA Methylation, Proteomic, and Metabolomic Profiles in African Ancestry Populations with APOL1 Risk Alleles.Journal of the American Society of Nephrology : JASN · 2025Article
Corrections and comments
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Authors and funding
36 authors at 12 institutions in 1 country.
Funding
Abstract
Expression quantitative trait methylation (eQTM) analysis identifies DNA CpG sites at which methylation is associated with gene expression. The present study describes an eQTM resource of CpG-transcript pairs derived from whole blood DNA methylation and RNA sequencing gene expression data in 2115 Framingham Heart Study participants. We identified 70,047 significant cis CpG-transcript pairs at p < 1E-7 where the top most significant eGenes (i.e., gene transcripts associated with a CpG) were enriched in biological pathways related to cell signaling, and for 1208 clinical traits (enrichment false discovery rate [FDR] ≤ 0.05). We also identified 246,667 significant trans CpG-transcript pairs at p < 1E-14 where the top most significant eGenes were enriched in biological pathways related to activation of the immune response, and for 1191 clinical traits (enrichment FDR ≤ 0.05). Independent and external replication of the top 1000 significant cis and trans CpG-transcript pairs was completed in the Women's Health Initiative and Jackson Heart Study cohorts. Using significant cis CpG-transcript pairs, we identified significant mediation of the association between CpG sites and cardiometabolic traits through gene expression and identified shared genetic regulation between CpGs and transcripts associated with cardiometabolic traits. In conclusion, we developed a robust and powerful resource of whole blood eQTM CpG-transcript pairs that can help inform future functional studies that seek to understand the molecular basis 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.