ArticleLupus science & medicine2024
5-Hydroxymethylcytosine in circulating cell-free DNA as a potential diagnostic biomarker for SLE.
Article in Lupus science & medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Circulating cell-free DNA as a biomarker in systemic lupus erythematosus: A narrative review.Journal of translational autoimmunity · 2026Review
- Impact of Long-Term Plasma Storage on Cell-Free DNA Epigenetic Biomarker Studies.Biomolecules · 2025Article
- Fluorescent probes in autoimmune disease research: current status and future prospects.Journal of translational medicine · 2025Review
- Cell-free DNA: a metabolic byproduct with diagnostic and prognostic potential in rheumatic disorders.Frontiers in pharmacology · 2025Review
- Advances in cfDNA research for pregnancy-related diseases.Frontiers in cell and developmental biology · 2025Review
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Authors and funding
14 authors.
Funding
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Abstract
backgroundSLE is a complex autoimmune disease with heterogeneous manifestations and unpredictable outcomes. Early diagnosis is challenging due to non-specific symptoms, and current treatments only manage symptoms. Epigenetic alternations, including 5-Hydroxymethylome (5hmC) modifications, are important contributors to SLE pathogenesis. However, the 5hmC modification status in circulating cell-free DNA (cfDNA) of patients with SLE remains largely unexplored. We investigated the distribution of 5hmC in cfDNA of patients with SLE and healthy controls (HCs), and explored its potential as an SLE diagnosis marker.
methodsWe used 5hmC-Seal to generate genome-wide 5hmC profiles of plasma cfDNA and bioinformatics analysis to screen differentially hydroxymethylated regions (DhMRs). In vitro mechanistic exploration was conducted to investigate the regulatory effect of CCCTC-binding factor (CTCF) in 5hmC candidate biomarkers.
resultsWe found distinct differences in genomic regions and 5hmC modification motif patterns between patients with SLE and HCs, varying with disease progression. Increased 5hmC modification enrichment was detected in SLE. Additionally, we screened 151 genes with hyper-5hmC, which are significantly involved in SLE-related processes, and 5hmC-modified
conclusionsOur findings demonstrate the increased 5hmC distribution in plasma cfDNA in different disease activity in patients with SLE compared with HCs and relating DhMRs involved in SLE-associated pathways. Furthermore, we identified a panel of SLE relevant biomarkers, and these viewpoints could provide insight into the pathogenesis of SLE.
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