ArticleHuman molecular genetics2021
Low-pass whole genome bisulfite sequencing of neonatal dried blood spots identifies a role for RUNX1 in Down syndrome DNA methylation profiles.
Article in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 58 citations in OpenAlex.
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- Persistent transcriptomic changes following repeated exposure to wood smoke in nonhuman primate airway epithelial cells.Environmental epigenetics · 2026Article
- The Unique Utility of Newborn Dried Blood Spots for Driving Discovery in Childhood Cancer Research.Clinical chemistry · 2025Review
- Neurodevelopment in congenital heart disease: a review of antenatal mechanisms and therapeutic potentials.Pediatric research · 2025Review
- Persistent transcriptomic changes following repeated exposure to wood smoke in non-human primate airway epithelial cells.bioRxiv : the preprint server for biology · 2025Article
- Increased methylation levels of theEpigenomics · 2025Article
- Sex-specific DNA methylation signatures of autism spectrum disorder from whole genome bisulfite sequencing of newborn blood.Biology of sex differences · 2025Article
- Advancements in machine learning and biomarker integration for prenatal Down syndrome screening.Turkish journal of obstetrics and gynecology · 2025Article
- Effects of maternal edible THC consumption on offspring lung growth and function in a rhesus macaque model.American journal of physiology. Lung cellular and molecular physiology · 2025Article
- DNA methylation biomarkers of intellectual/developmental disability across the lifespan.Journal of neurodevelopmental disorders · 2025Review
- FAIRification of the DMRichR pipeline: advancing epigenetic research on environmental and evolutionary model organisms.Bioinformatics advances · 2025Article
- Excess prenatal folic acid supplementation alters cortical DNA methylation and gene expression networks.Frontiers in nutrition · 2025Article
- SilencingEnvironmental epigenetics · 2025Article
- Long noncoding RNA MALAT1 mediates fibrous topography-driven pathologic calcification through trans-differentiation of myoblasts.Materials today. Bio · 2024Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Neonatal dried blood spots (NDBS) are a widely banked sample source that enables retrospective investigation into early life molecular events. Here, we performed low-pass whole genome bisulfite sequencing (WGBS) of 86 NDBS DNA to examine early life Down syndrome (DS) DNA methylation profiles. DS represents an example of genetics shaping epigenetics, as multiple array-based studies have demonstrated that trisomy 21 is characterized by genome-wide alterations to DNA methylation. By assaying over 24 million CpG sites, thousands of genome-wide significant (q < 0.05) differentially methylated regions (DMRs) that distinguished DS from typical development and idiopathic developmental delay were identified. Machine learning feature selection refined these DMRs to 22 loci. The DS DMRs mapped to genes involved in neurodevelopment, metabolism, and transcriptional regulation. Based on comparisons with previous DS methylation studies and reference epigenomes, the hypermethylated DS DMRs were significantly (q < 0.05) enriched across tissues while the hypomethylated DS DMRs were significantly (q < 0.05) enriched for blood-specific chromatin states. A ~28 kb block of hypermethylation was observed on chromosome 21 in the RUNX1 locus, which encodes a hematopoietic transcription factor whose binding motif was the most significantly enriched (q < 0.05) overall and specifically within the hypomethylated DMRs. Finally, we also identified DMRs that distinguished DS NDBS based on the presence or absence of congenital heart disease (CHD). Together, these results not only demonstrate the utility of low-pass WGBS on NDBS samples for epigenome-wide association studies, but also provide new insights into the early life mechanisms of epigenomic dysregulation resulting from trisomy 21.
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