ArticleCurrent issues in molecular biology2023
Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients.
Article in Current issues in molecular biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 9 citations in OpenAlex.
- AA amyloidosis in familial Mediterranean fever: a comparative study of clinical and genetic features between Algerian probands and their relatives.Rheumatology international · 2026Article
- Dynamic responses in the human methylome to exertional heat exhaustion, heat injury, and heat stroke.Human genomics · 2026Article
- Exploring the Role of Vitamin D in Familial Mediterranean Fever: Pathogenesis, Triggers, and Immune Modulation.Medical sciences (Basel, Switzerland) · 2026Review
- Unravelling new mechanisms of occurrence and recurrence in calcium nephrolithiasis: the role of epigenetics.World journal of urology · 2026Review
- A Narrative Review on Integrative Bioinformatics Approaches for microRNA Research in Familial Mediterranean Fever: Current Insights and Future Directions.Health science reports · 2026Article
- Familial Mediterranean Fever: A Comprehensive Review of Pathogenesis, Genetics, and Epigenetic Regulation.Balkan medical journal · 2026Review
- The role of epigenetic modifications in systemic autoinflammatory diseases.Current opinion in immunology · 2025Review
- HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.The Journal of experimental medicine · 2025Article
- miR-21 and cathepsin B in familial Mediterranean fever: novel findings regarding their impact on disease severity.BMJ paediatrics open · 2025Article
- Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients.Clinical rheumatology · 2024Article
- Updates on the role of epigenetics in familial mediterranean fever (FMF).Orphanet journal of rare diseases · 2024Review
- Late-onset familial Mediterranean fever: A case series of missed diagnoses in pleural effusions.Sage open chronic diseaseArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epigenetic modifications play a pivotal role in autoimmune/inflammatory disorders and could establish a bridge between personalized medicine and disease epidemiological contexts. We sought to investigate the role of epigenetic modifications beside genetic alterations in the MEFV gene in familial Mediterranean fever (FMF). The study comprised 63 FMF patients diagnosed according to the Tel Hashomer criteria: 37 (58.7%) colchicine-responders, 26 (41.3%) non-responders, and 19 matched healthy controls. MEFV mutations were detected using a CE/IVD-labeled 4-230 FMF strip assay. DNA methylation of MEFV gene exon 2 was measured using bisulfite modification and related to pyrin level, phenotypic picture, MEFV mutations, disease severity, serum amyloid A (SAA), CRP, ESR, disease severity, and colchicine response. Our results showed that FMF patients exhibited significantly higher methylation percentage (p < 0.001) and lower pyrin levels (p < 0.001) compared to the control. The MEFV gene M694I mutation was the most commonly reported mutation (p < 0.004). High methylation percentage of the MEFV exon 2 and low pyrin concentration were correlated with disease severity, high SAA, ESR levels, H-pylori, and renal calculi. In conclusion, this study highlights the relation between high methylation percentage, reduced pyrin level, and different biomarkers in FMF, which underscores their role in the pathogenesis of FMF and could be considered as potential therapeutic targets.
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