ArticleEpigenetics & chromatin2018
Genome-wide analysis of DNA methylation in buccal cells: a study of monozygotic twins and mQTLs.
Article in Epigenetics & chromatin, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- New insights into the (epi)genetics of twinning.Human reproduction (Oxford, England) · 2024Pooled it
- Intergenerational transmission of complex traits and the offspring methylome.Molecular psychiatry · 2025Article
- Identification and characterization of TCP transcription factor GmTCP670 associated with soybean development.Scientific reports · 2025Article
- A DNA Methylation Signature From Buccal Swabs to Identify Tuberculosis Infection.The Journal of infectious diseases · 2025Article
- Methodology for Biological Sample Collection, Processing, and Storage in the Newcastle 1000 Pregnancy Cohort: Protocol for a Longitudinal, Prospective Population-Based Study in Australia.JMIR research protocols · 2024Article
- Genome-wide QTL mapping across three tissues highlights several Alzheimer's and Parkinson's disease loci potentially acting via DNA methylation.medRxiv : the preprint server for health sciences · 2023Article
- Sex-specific DNA methylation in saliva from the multi-ethnic Future of Families and Child Wellbeing Study.Epigenetics · 2023Article
- Differential DNA Methylation from Autistic Children Enriches Evidence for Genes Associated with ASD and New Candidate Genes.Brain sciences · 2023Article
- Genome-Wide DNA Methylation Profiles in Whole-Blood and Buccal Samples-Cross-Sectional, Longitudinal, and across Platforms.International journal of molecular sciences · 2023Article
- Genetic impacts on DNA methylation help elucidate regulatory genomic processes.Genome biology · 2023Article
- An overview of DNA methylation-derived trait score methods and applications.Genome biology · 2023Review
- Maternal-fetal stress and DNA methylation signatures in neonatal saliva: an epigenome-wide association study.Clinical epigenetics · 2022Article
- Epigenome-wide association studies: current knowledge, strategies and recommendations.Clinical epigenetics · 2021Review
- Genome-Wide Analysis of DNA Methylation in Buccal Cells of Children Conceived through IVF and ICSI.Genes · 2021Article
- Identical twins carry a persistent epigenetic signature of early genome programming.Nature communications · 2021Article
- SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study.Translational psychiatry · 2021Article
- Genetic impacts on DNA methylation: research findings and future perspectives.Genome biology · 2021Review
- Equivalent DNA methylation variation between monozygotic co-twins and unrelated individuals reveals universal epigenetic inter-individual dissimilarity.Genome biology · 2021Article
- Intergenerational transmission: Theoretical and methodological issues and an introduction to four Dutch cohorts.Developmental cognitive neuroscience · 2020Review
- The PedBE clock accurately estimates DNA methylation age in pediatric buccal cells.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundDNA methylation arrays are widely used in epigenome-wide association studies and methylation quantitative trait locus (mQTL) studies. Here, we performed the first genome-wide analysis of monozygotic (MZ) twin correlations and mQTLs on data obtained with the Illumina MethylationEPIC BeadChip (EPIC array) and compared the performance of the EPIC array to the Illumina HumanMethylation450 BeadChip (HM450 array) for buccal-derived DNA.
resultsGood-quality EPIC data were obtained for 102 buccal-derived DNA samples from 49 MZ twin pairs (mean age = 7.5 years, range = 1-10). Differences between MZ twins in the cellular content of buccal swabs were a major driver for differences in their DNA methylation profiles, highlighting the importance to adjust for cellular composition in DNA methylation studies of buccal-derived DNA. After adjusting for cellular composition, the genome-wide mean correlation (r) between MZ twins was 0.21 for the EPIC array, and cis mQTL analysis in 84 twins identified 1,296,323 significant associations (FDR 5%), encompassing 33,749 methylation sites and 616,029 genetic variants. MZ twin correlations were slightly larger (p < 2.2 × 10
conclusionsWe conclude that the contribution of familial factors to individual differences in DNA methylation and the effect of mQTLs are larger for novel EPIC probes, especially those within regulatory elements connected to active regions specific to the investigated tissue.
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