ArticlePloS one2018
Newborn blood DNA epigenetic variations and signaling pathway genes associated with Tetralogy of Fallot (TOF).
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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.
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Who cites it
21 citing papers in PubMed, 27 citations in OpenAlex.
- The Impact of Maternal Obesity and Diabetes on the Development of Congenital Heart Defects (CHDs) in Offspring: A Narrative Review.Metabolites · 2026Review
- Decoding NEC: epigenetic biomarkers for risk stratification and prognosis.Pediatric research · 2026Article
- Identification of DNA methylation biomarkers in amniotic fluid for prenatal detection of congenital heart disease (CHD).Clinical epigenetics · 2026Article
- Review
- Epigenetic Mechanisms in Heart Diseases.Reviews in cardiovascular medicine · 2025Review
- Using Residual Newborn Blood Spots to Investigate CpG Methylation in Relation to Air Pollution and Congenital Heart Defects.Birth defects research · 2025Article
- Early life epigenetics and childhood outcomes: a scoping review.Pediatric research · 2025Article
- Article
- Machine Learning in Identifying Marker Genes for Congenital Heart Diseases of Different Cardiac Cell Types.Life (Basel, Switzerland) · 2024Article
- Bioinformatics in Neonatal/Pediatric Medicine-A Literature Review.Journal of personalized medicine · 2024Review
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
- Epigenetics in Congenital Heart Disease.Journal of the American Heart Association · 2022Review
- Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.Circulation. Genomic and precision medicine · 2022Observational
- Genome-Wide Analysis of DNA Methylation in Buccal Cells of Children Conceived through IVF and ICSI.Genes · 2021Article
- The role of DNA methylation in syndromic and non-syndromic congenital heart disease.Clinical epigenetics · 2021Review
- Review
- Exploring the Role of Maternal Nutritional Epigenetics in Congenital Heart Disease.Current developments in nutrition · 2020Review
- Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Promoter methylation status ofTranslational lung cancer research · 2019Article
- Epigenetics and Mechanobiology in Heart Development and Congenital Heart Disease.Diseases (Basel, Switzerland) · 2019Review
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tetralogy of Fallot (TOF) is the most common Critical Congenital Heart Defect (CCHD). The etiology of TOF is unknown in most cases. Preliminary data from our group and others suggest that epigenetic changes may play an important role in CHD. Epidemiologically, a significant percentage of CHD including TOF fail to be diagnosed in the prenatal and early newborn period which can negatively affect health outcomes. We performed genome-wide methylation assay in newborn blood in 24 non-syndromic TOF cases and 24 unaffected matched controls using Illumina Infinium HumanMethylation450 BeadChips. We identified 64 significantly differentially methylated CpG sites in TOF cases, of which 25 CpG sites had high predictive accuracy for TOF, based on the area under the receiver operating characteristics curve (AUC ROC) ≥ 0.90). The CpG methylation difference between TOF and controls was ≥10% in 51 CpG targets suggesting biological significance. Gene ontology analysis identified significant biological processes and functions related to these differentially methylated genes, including: CHD development, cardiomyopathy, diabetes, immunological, inflammation and other plausible pathways in CHD development. Multiple genes known or plausibly linked to heart development and post-natal heart disease were found to be differentially methylated in the blood DNA of newborns with TOF including: ABCB1, PPP2R5C, TLR1, SELL, SCN3A, CREM, RUNX and LHX9. We generated novel and highly accurate putative molecular markers for TOF detection using leucocyte DNA and thus provided information on pathogenesis of TOF.
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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.