ArticleNature communications2018
Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- An epigenetic clock for chronological age estimation in East Asian populations.NAR genomics and bioinformatics · 2026Article
- Hybrid origin and phenotype evolution of the modern maize.Journal of integrative plant biology · 2026Review
- nanoASM: Long-Read Allele-Specific DNA Methylation Profiling Enables Functional Annotation of Regulatory Noncoding Variants in Human Prostate Tissues.bioRxiv : the preprint server for biology · 2026Article
- DNA methylation in the placenta and household socioeconomic status: the SPAH study.Clinical epigenetics · 2026Article
- 3D genetic architecture of schizophrenia risk across three neuronal subtypes.Molecular psychiatry · 2026Article
- An in silico approach for screening non-synonymous SNPs in Mycobacterium tuberculosis PPE68 protein and impact on structure.Scientific reports · 2025Article
- Analysis of blood methylation quantitative trait loci in East Asians reveals ancestry-specific impacts on complex traits.Nature genetics · 2024Article
- Epigenomic insights into common human disease pathology.Cellular and molecular life sciences : CMLS · 2024Review
- Reply to: Genetic differentiation at probe SNPs leads to spurious results in meQTL discovery.Communications biology · 2023Article
- Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios.Scientific reports · 2023Article
- Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.American journal of human genetics · 2023Article
- Association between adiposity and facial aging: results from a Mendelian randomization study.European journal of medical research · 2023Article
- Genetic impacts on DNA methylation help elucidate regulatory genomic processes.Genome biology · 2023Article
- Predicting the photon energy of quasi-2D lead halide perovskites from the precursor composition through machine learning.Nanoscale advances · 2022Article
- Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function.Nature genetics · 2022Article
- The genomic loci of specific human tRNA genes exhibit ageing-related DNA hypermethylation.Nature communications · 2021Article
- DNMT3b SUMOylation Mediated MMP-2 Upregulation Contribute to Paclitaxel Induced Neuropathic Pain.Neurochemical research · 2021Article
- Genetic impacts on DNA methylation: research findings and future perspectives.Genome biology · 2021Review
- Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.PLoS genetics · 2020Article
- Detection of haplotype-dependent allele-specific DNA methylation in WGBS data.Nature communications · 2020Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Integrating epigenetic data with genome-wide association study (GWAS) results can reveal disease mechanisms. The genome sequence itself also shapes the epigenome, with CpG density and transcription factor binding sites (TFBSs) strongly encoding the DNA methylome. Therefore, genetic polymorphism impacts on the observed epigenome. Furthermore, large genetic variants alter epigenetic signal dosage. Here, we identify DNA methylation variability between GWAS-SNP risk and non-risk haplotypes. In three subsets comprising 3128 MeDIP-seq peripheral-blood DNA methylomes, we find 7173 consistent and functionally enriched Differentially Methylated Regions. 36.8% can be attributed to common non-SNP genetic variants. CpG-SNPs, as well as facilitative TFBS-motifs, are also enriched. Highlighting their functional potential, CpG-SNPs strongly associate with allele-specific DNase-I hypersensitivity sites. Our results demonstrate strong DNA methylation allelic differences driven by obligatory or facilitative genetic effects, with potential direct or regional disease-related repercussions. These allelic variations require disentangling from pure tissue-specific modifications, may influence array studies, and imply underestimated population variability in current reference epigenomes.
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