ArticleJCI insight2020
Multiplexing DNA methylation markers to detect circulating cell-free DNA derived from human pancreatic β cells.
Article in JCI insight, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 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.
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.
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Who cites it
36 citing papers in PubMed, 50 citations in OpenAlex.
- Biomarkers of partial remission in paediatric type 1 diabetes: β-cell stress, immune-metabolic remodelling, and translational priorities-a narrative review.Translational pediatrics · 2026Review
- Pancreatic islets: new discoveries for innovative treatments of diabetes?Diabetologia · 2026Review
- Human DNA levels in feces reflect gut inflammation and associate with presence of gut species in IBD patients across the age spectrum.Microbiome · 2026Article
- Preclinical Diagnosis of Type 1 Diabetes: Reality or Utopia.Biomedicines · 2025Review
- Epigenetic liquid biopsies reveal endothelial turnover and erythropoiesis in asymptomatic COVID-19.Life science alliance · 2025Article
- Uhrf1 downregulation promotes β-cell dedifferentiation by decreasing Foxo1 expression in type 2 diabetes.Journal of diabetes investigation · 2025Article
- Genetic/epigenetic DNA markers for linking suspects and tissues in complex crime scenes.Briefings in bioinformatics · 2025Article
- Circulating eosinophil cell-free DNA as a noninvasive biomarker for perforated appendicitis in pediatric patients-a proof-of-concept study.Scientific reports · 2025Article
- Atlas of imprinted and allele-specific DNA methylation in the human body.Nature communications · 2025Article
- Detection of Brain-Derived Cell-Free DNA in Plasma.Diagnostics (Basel, Switzerland) · 2024Article
- RISING STARS: Evidence for established and emerging forms of β-cell death.The Journal of endocrinology · 2024Review
- Article
- Protein biomarkers and alternatively methylated cell-free DNA detect early stage pancreatic cancer.Gut · 2024Article
- Chronic graft-versus-host disease detected by tissue-specific cell-free DNA methylation biomarkers.The Journal of clinical investigation · 2024Article
- Beta-cell death and dysfunction drives hyperglycaemia in organ donors.Diabetes, obesity & metabolism · 2023Article
- Megakaryocyte- and erythroblast-specific cell-free DNA patterns in plasma and platelets reflect thrombopoiesis and erythropoiesis levels.Nature communications · 2023Article
- Islet autoimmunity in human type 1 diabetes: initiation and progression from the perspective of the beta cell.Diabetologia · 2023Review
- Unlocking the secrets: the power of methylation-based cfDNA detection of tissue damage in organ systems.Clinical epigenetics · 2023Review
- The pathogenic "symphony" in type 1 diabetes: A disorder of the immune system, β cells, and exocrine pancreas.Cell metabolism · 2023Review
- Elevated cfDNA after exercise is derived primarily from mature polymorphonuclear neutrophils, with a minor contribution of cardiomyocytes.Cell reports. Medicine · 2023Article
Corrections and comments
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Authors and funding
25 authors at 8 institutions in 4 countries.
Funding
Abstract
It has been proposed that unmethylated insulin promoter fragments in plasma derive exclusively from β cells, reflect their recent demise, and can be used to assess β cell damage in type 1 diabetes. Herein we describe an ultrasensitive assay for detection of a β cell-specific DNA methylation signature, by simultaneous assessment of 6 DNA methylation markers, that identifies β cell DNA in mixtures containing as little as 0.03% β cell DNA (less than 1 β cell genome equivalent). Based on this assay, plasma from nondiabetic individuals (N = 218, aged 4-78 years) contained on average only 1 β cell genome equivalent/mL. As expected, cell-free DNA (cfDNA) from β cells was significantly elevated in islet transplant recipients shortly after transplantation. We also detected β cell cfDNA in a patient with KATP congenital hyperinsulinism, in which substantial β cell turnover is thought to occur. Strikingly, in contrast to previous reports, we observed no elevation of β cell-derived cfDNA in autoantibody-positive subjects at risk for type 1 diabetes (N = 32), individuals with recent-onset type 1 diabetes (<4 months, N = 92), or those with long-standing disease (>4 months, N = 38). We discuss the utility of sensitive β cell cfDNA analysis and potential explanations for the lack of a β cell cfDNA signal in type 1 diabetes.
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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.