ArticlePloS one2016
A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis 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.
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
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 126 citations in OpenAlex.
- Pooled it
- Effect of prenatal DHA supplementation on the infant epigenome: results from a randomized controlled trial.Clinical epigenetics · 2016Trial
- Prenatal Chromium Exposure and Gestational Diabetes Mellitus: Integrating Genetic and Epigenetic Regulation of LPCAT1 from a Phospholipid Remodeling Perspective.Biological trace element research · 2026Article
- Genetically Predicted Blood DNA Methylation Reveals Putative Regulatory Signals Associated with ALS Risk.medRxiv : the preprint server for health sciences · 2026Article
- The role of sortilin in cardiovascular calcification: mechanisms and therapeutic potential.Frontiers in cardiovascular medicine · 2026Review
- Emerging opportunities for DNA methylation biomarkers in cattle improvement.The Journal of reproduction and development · 2026Review
- Blood and adipose tissue DNA methylation in adults born preterm with a very low birth weight - a sibling comparison study.Epigenomics · 2026Article
- DNA methylation reshapes the expression of adipokines and adipose factors in white adipose tissues.Epigenetics & chromatin · 2025Review
- Genetic Architecture of Immune Cell DNA Methylation in the Rhesus Macaque.Molecular ecology · 2025Article
- Methylation Risk Score Modelling in Endometriosis: Evidence for Non-Genetic DNA Methylation Effects in a Case-Control Study.International journal of molecular sciences · 2025Article
- Peripheral DNA Methylation of Cortisol- and Serotonin-Related Genes Predicts Hippocampal Volume in a Pediatric Population.Biological psychiatry global open science · 2025Article
- Impact of excess sugar on the whole genome DNA methylation pattern in human sperm.Epigenomics · 2025Article
- Considerations on efforts needed to improve our understanding of the genetics of obesity.International journal of obesity (2005) · 2025Review
- Understanding prokaryotic adaptation through advanced DNA methylation detection techniques.The ISME journal · 2025Review
- Genetic effects on the skin methylome in healthy older twins.American journal of human genetics · 2024Article
- Transgenerational Epigenetic Inheritance of Cardiovascular Diseases: A Network Medicine Perspective.Maternal and child health journal · 2024Review
- Genetic control of DNA methylation is largely shared across European and East Asian populations.Nature communications · 2024Article
- QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.Nature communications · 2024Article
- Adenylate cyclase 3: a potential genetic link between obesity and major depressive disorder.Physiological genomics · 2024Review
- Genetics and Epigenetics in Obesity: What Do We Know so Far?Current obesity reports · 2023Review
12 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
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Little is known about the extent to which interactions between genetics and epigenetics may affect the risk of complex metabolic diseases and/or their intermediary phenotypes. We performed a genome-wide DNA methylation quantitative trait locus (mQTL) analysis in human adipose tissue of 119 men, where 592,794 single nucleotide polymorphisms (SNPs) were related to DNA methylation of 477,891 CpG sites, covering 99% of RefSeq genes. SNPs in significant mQTLs were further related to gene expression in adipose tissue and obesity related traits. We found 101,911 SNP-CpG pairs (mQTLs) in cis and 5,342 SNP-CpG pairs in trans showing significant associations between genotype and DNA methylation in adipose tissue after correction for multiple testing, where cis is defined as distance less than 500 kb between a SNP and CpG site. These mQTLs include reported obesity, lipid and type 2 diabetes loci, e.g. ADCY3/POMC, APOA5, CETP, FADS2, GCKR, SORT1 and LEPR. Significant mQTLs were overrepresented in intergenic regions meanwhile underrepresented in promoter regions and CpG islands. We further identified 635 SNPs in significant cis-mQTLs associated with expression of 86 genes in adipose tissue including CHRNA5, G6PC2, GPX7, RPL27A, THNSL2 and ZFP57. SNPs in significant mQTLs were also associated with body mass index (BMI), lipid traits and glucose and insulin levels in our study cohort and public available consortia data. Importantly, the Causal Inference Test (CIT) demonstrates how genetic variants mediate their effects on metabolic traits (e.g. BMI, cholesterol, high-density lipoprotein (HDL), hemoglobin A1c (HbA1c) and homeostatic model assessment of insulin resistance (HOMA-IR)) via altered DNA methylation in human adipose tissue. This study identifies genome-wide interactions between genetic and epigenetic variation in both cis and trans positions influencing gene expression in adipose tissue and in vivo (dys)metabolic traits associated with the development of obesity and diabetes.
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Registered trials
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.