ArticleGenome biology2021
Human brain region-specific variably methylated regions are enriched for heritability of distinct neuropsychiatric traits.
Article in Genome biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 33 citations in OpenAlex.
- Local SNP-explained methylation variation reveals genetically anchored and exposure-associated methylation architecture in the human brain.bioRxiv : the preprint server for biology · 2026Article
- Genome-Wide and Locus-Level Analyses Reveal Modest, Heterogeneous Genetic Sharing Between Alzheimer's Disease and Myasthenia Gravis.International journal of molecular sciences · 2026Article
- Epigenomic methylome landscape of promoters in vertebrate genomes.bioRxiv : the preprint server for biology · 2026Article
- The molecular impact of cigarette smoking resembles aging across tissues.Genome medicine · 2025Article
- Evaluation of Illumina and Oxford Nanopore Sequencing for the Study of DNA Methylation in Alzheimer's Disease and Frontotemporal Dementia.International journal of molecular sciences · 2025Review
- vmrseq: probabilistic modeling of single-cell methylation heterogeneity.Genome biology · 2024Article
- Detection of Brain-Derived Cell-Free DNA in Plasma.Diagnostics (Basel, Switzerland) · 2024Article
- Alcohol Use Disorder-Associated DNA Methylation in the Nucleus Accumbens and Dorsolateral Prefrontal Cortex.Biological psychiatry global open science · 2024Article
- Deciphering Oligodendrocyte Lineages in the Human Fetal Central Nervous System Using Single-Cell RNA Sequencing.Molecular neurobiology · 2024Article
- Cross-Species Comparative DNA Methylation Reveals Novel Insights into Complex Trait Genetics among Cattle, Sheep, and Goats.Molecular biology and evolution · 2024Article
- Alcohol Use Disorder-Associated DNA Methylation in the Nucleus Accumbens and Dorsolateral Prefrontal Cortex.medRxiv : the preprint server for health sciences · 2024Article
- Linking Prenatal Environmental Exposures to Lifetime Health with Epigenome-Wide Association Studies: State-of-the-Science Review and Future Recommendations.Environmental health perspectives · 2023Review
- Molecular Mechanism Biomarkers Predict Diagnosis in Schizophrenia and Schizoaffective Psychosis, with Implications for Treatment.International journal of molecular sciences · 2023Article
- An inhibitory circuit-based enhancer of DYRK1A function reverses Dyrk1a-associated impairment in social recognition.Neuron · 2023Article
- Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease.Nature genetics · 2023Article
- Perinatal S-Adenosylmethionine Supplementation RepressesInternational journal of molecular sciences · 2023Article
- PlantCADB: A Comprehensive Plant Chromatin Accessibility Database.Genomics, proteomics & bioinformatics · 2023Article
- DNA methylation entropy is associated with DNA sequence features and developmental epigenetic divergence.Nucleic acids research · 2023Article
- Systemic interindividual epigenetic variation in humans is associated with transposable elements and under strong genetic control.Genome biology · 2023Article
- MethBank 4.0: an updated database of DNA methylation across a variety of species.Nucleic acids research · 2023Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundDNA methylation dynamics in the brain are associated with normal development and neuropsychiatric disease and differ across functionally distinct brain regions. Previous studies of genome-wide methylation differences among human brain regions focus on limited numbers of individuals and one to two brain regions.
resultsUsing GTEx samples, we generate a resource of DNA methylation in purified neuronal nuclei from 8 brain regions as well as lung and thyroid tissues from 12 to 23 donors. We identify differentially methylated regions between brain regions among neuronal nuclei in both CpG (181,146) and non-CpG (264,868) contexts, few of which were unique to a single pairwise comparison. This significantly expands the knowledge of differential methylation across the brain by 10-fold. In addition, we present the first differential methylation analysis among neuronal nuclei from basal ganglia tissues and identify unique CpG differentially methylated regions, many associated with ion transport. We also identify 81,130 regions of variably CpG methylated regions, i.e., variable methylation among individuals in the same brain region, which are enriched in regulatory regions and in CpG differentially methylated regions. Many variably methylated regions are unique to a specific brain region, with only 202 common across all brain regions, as well as lung and thyroid. Variably methylated regions identified in the amygdala, anterior cingulate cortex, and hippocampus are enriched for heritability of schizophrenia.
conclusionsThese data suggest that epigenetic variation in these particular human brain regions could be associated with the risk for this neuropsychiatric disorder.
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