ArticleAging2015
Identification of a DNA methylation signature in blood cells from persons with Down Syndrome.
Article in Aging, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03871296 (DNA Methylation in Allogeneic Hematopoietic Stem Cell Transplantation), which is not on this map. Cited by 69 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
DNA Methylation in Allogeneic Hematopoietic Stem Cell Transplantation (MET_SCT_2018).
Who cites it
69 citing papers in PubMed, 1 synthesis or guideline pooled it, 139 citations in OpenAlex.
- Elevated DNA methylation across a 48-kb region spanning the HOXA gene cluster is associated with Alzheimer's disease neuropathology.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2018Pooled it
- Exploring a targeted epigenetic clock based on mortality-associated CpGs as a potential biomarker for frailty.Clinical epigenetics · 2026Article
- Multi-omics investigation of thyroid development and dysfunction in down syndrome.Human molecular genetics · 2026Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Uncertainty Quantification in Epigenetic Clocks via Conformalized Quantile Regression.Genetic epidemiology · 2025Article
- Unified high-resolution immune cell fraction estimation in blood tissue from birth to old age.Genome medicine · 2025Article
- DNA methylation biomarkers of intellectual/developmental disability across the lifespan.Journal of neurodevelopmental disorders · 2025Review
- Uncertainty quantification in epigenetic clocks via conformalized quantile regression.medRxiv : the preprint server for health sciences · 2025Article
- Down Syndrome in Children: A Primary Immunodeficiency with Immune Dysregulation.Children (Basel, Switzerland) · 2024Article
- Development of an epigenetic clock resistant to changes in immune cell composition.Communications biology · 2024Article
- Joint modeling of an outcome variable and integrated omics datasets using GLM-PO2PLS.Journal of applied statistics · 2024Article
- DNA methylation of hematopoietic stem/progenitor cells from donor peripheral blood to patient bone marrow: implications for allogeneic hematopoietic stem cell transplantation.Clinical and experimental medicine · 2023Article
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- Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder.Molecular psychiatry · 2023Review
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- DNA methylation patterns at birth predict health outcomes in young adults born very low birthweight.Clinical epigenetics · 2023Article
- Article
- DNA Methylation Analysis of Ribosomal DNA in Adults With Down Syndrome.Frontiers in genetics · 2022Article
- Novel Approaches to an Integrated Route for Trisomy 21 Evaluation.Biomolecules · 2021Review
- Article
9 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
22 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Down Syndrome (DS) is characterized by a wide spectrum of clinical signs, which include segmental premature aging of central nervous and immune systems. Although it is well established that the causative defect of DS is the trisomy of chromosome 21, the molecular bases of its phenotype are still largely unknown. We used the Infinium HumanMethylation450 BeadChip to investigate DNA methylation patterns in whole blood from 29 DS persons, using their relatives (mothers and unaffected siblings) as controls. This family-based model allowed us to monitor possible confounding effects on DNA methylation patterns deriving from genetic and environmental factors. Although differentially methylated regions (DMRs) displayed a genome-wide distribution, they were enriched on chromosome 21. DMRs mapped in genes involved in developmental functions, including embryonic development (HOXA family) and haematological (RUNX1 and EBF4) and neuronal (NCAM1) development. Moreover, genes involved in the regulation of chromatin structure (PRMD8, KDM2B, TET1) showed altered methylation. The data also showed that several pathways are affected in DS, including PI3K-Akt signaling. In conclusion, we identified an epigenetic signature of DS that sustains a link between developmental defects and disease phenotype, including segmental premature aging.
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What OpenQuestion holds
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.