ArticleNature genetics2023
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits.
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 152 papers, 4 of them syntheses that pooled it.
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Who cites it
152 citing papers in PubMed, 4 syntheses or guidelines pooled it, 177 citations in OpenAlex.
- Meta-analysis of DNA methylation aging signatures in 17 human tissues.Nature aging · 2026Pooled it
- DNA methylation signatures of bilateral hippocampal volume, asymmetry and atrophy: a cross-omics analysis in the general population.EBioMedicine · 2026Pooled it
- CPNE1: A novel therapeutic target for myopia progression - from genetic GWAS discovery to functional validation in vitro and vivo.Journal of translational medicine · 2026Pooled it
- Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis.Nature communications · 2025Pooled it
- Prenatal Chromium Exposure and Gestational Diabetes Mellitus: Integrating Genetic and Epigenetic Regulation of LPCAT1 from a Phospholipid Remodeling Perspective.Biological trace element research · 2026Article
- Machine learning and statistical methods for molecular quantitative trait loci.Nature reviews. Genetics · 2026Review
- Review
- FM-GPT: Bayesian fine mapping for phenome-wide transcriptome-wide association studies.PLoS genetics · 2026Article
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Decoding Primary Open-Angle Glaucoma: A Multi-Omics Approach to Identify Druggable Effector Genes.Investigative ophthalmology & visual science · 2026Article
- Histological aging signatures for monitoring tissue-specific aging and disease.Nature medicine · 2026Article
- Bridging precision agriculture and human medicine through comparative genetics.Nature reviews. Genetics · 2026Review
- Decoding the sequence determinants of locus-specific DNA methylation across human tissues.Nature communications · 2026Article
- Article
- Placental DNA methylation captures shared and trait-specific genetic susceptibility across complex health conditions.medRxiv : the preprint server for health sciences · 2026Article
- Population epigenetics: deciphering DNA methylation diversity and its implications for health, disease, and evolution.Molecular biology and evolution · 2026Review
- DeepMethylation: A deep learning framework for tissue-specific DNA methylation prediction and functional variant annotation.PLoS computational biology · 2026Article
- Causal relationship between epigenetic markers and type 2 diabetes in West African populations: a Mendelian randomisation analysis.Diabetologia · 2026Article
- A scalable approach to investigating sequence-to-function predictions from personal genomes.Nature methods · 2026Article
92 more citing papers are in PubMed but not listed here.
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9 authors at 2 institutions in 1 country.
Funding
Abstract
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-specific characterization of DNAm is needed to understand its role in gene regulation and its relevance to complex traits. We generated array-based DNAm profiles for 987 human samples from the Genotype-Tissue Expression (GTEx) project, representing 9 tissue types and 424 subjects. We characterized methylome and transcriptome correlations (eQTMs), genetic regulation in cis (mQTLs and eQTLs) across tissues and e/mQTLs links to complex traits. We identified mQTLs for 286,152 CpG sites, many of which (>5%) show tissue specificity, and mQTL colocalizations with 2,254 distinct GWAS hits across 83 traits. For 91% of these loci, a candidate gene link was identified by integration of functional maps, including eQTMs, and/or eQTL colocalization, but only 33% of loci involved an eQTL and mQTL present in the same tissue type. With this DNAm-focused integrative analysis, we contribute to the understanding of molecular regulatory mechanisms in human tissues and their impact on complex traits.
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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.