Evidence map›Paper›PMID 40618553›Full record

ReviewCurrent opinion in immunology2025

The role of epigenetic modifications in systemic autoinflammatory diseases.

Kader Cetin Gedik, Desiré Casares-Marfil, Erkan Demirkaya, Amr H Sawalha

Abstract readReview
In one paragraph

Review in Current opinion in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Programmed cell death in osteoarthritis.Apoptosis : an international journal on programmed cell death · 2026
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Kader Cetin GedikDivision of Pediatric Rheumatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA; Pediatric Autoinflammatory Diseases Center, University of Pittsburgh, Pittsburgh, USA.
Desiré Casares-MarfilDivision of Pediatric Rheumatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Erkan DemirkayaDivision of Pediatric Rheumatology, Department of Pediatrics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, Ontario, Canada; Canadian Behcet's and Autoinflammatory Diseases Center, University of Western Ontario, London, Ontario, Canada; Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, Ontario, Canada.
Amr H SawalhaDivision of Pediatric Rheumatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA; Division of Rheumatology and Clinical Immunology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA; Department of Immunology, University of Pittsburgh, Pittsburgh, USA; Lupus Center of Excellence, University of Pittsburgh, Pittsburgh, USA. Electronic address: asawalha@pitt.edu.

Funding

Molecular Basis of Pediatric DiseaseK12HD052892 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI TERENCE S. DERMODY · 2007 to 2026
$6.5M
Role of DNA methylation in lupusR01AI097134 · NIAID · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Amr H Sawalha · 2013 to 2026
$4.5M
NIAID NIH HHS R01 AI097134NICHD NIH HHS K12 HD052892
6 · The paper itself

Abstract

Autoinflammatory diseases are a group of immune dysregulation disorders, with genetic mutations identified in approximately 50% of patients. However, patients with known pathogenic mutations may display a broad range of phenotypic diversity. Epigenetic modifications play a crucial role in regulating immune-mediated diseases, including autoinflammatory diseases, influencing disease course and complications. This review provides an overview of the current literature on the role of epigenetic changes in autoinflammatory diseases, examining their implications for disease mechanisms. To identify biological processes and pathways influenced by microRNAs across autoinflammatory diseases, we performed enrichment analyses in Gene Ontology biological processes. This analysis revealed enriched pathways reflecting the varying biological mechanisms implicated in familial Mediterranean fever (FMF), tumor necrosis factor associated periodic syndrome (TRAPS), and neonatal-onset multisystem inflammatory disease (NOMID). Notably, FMF was linked to clinically significant pathways, including those related to cytokine production, cardiovascular system, and neuroinflammation. These results highlight the potential of epigenetic modifications as biomarkers for autoinflammatory diseases. Given the role of epigenetic modifications in gene expression and the growing interest in their involvement in disease pathogenesis and therapy, including in rare disorders, further research into the epigenetic landscape of autoinflammatory diseases is essential. Furthermore, integrating genetic, epigenetic, and environmental factors will be key to addressing clinical variability and developing personalized treatment approaches.

Indexed as

Autoimmune DiseasesEpigenesis, GeneticHereditary Autoinflammatory DiseasesInflammationAnimalsHumansMicroRNAsMicroRNAs

Identifiers

PMID40618553
PMCPMC13215971

What OpenQuestion holds

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Registered trials

None linked

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.