ArticleAnnals of the rheumatic diseases2005
Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene.
Article in Annals of the rheumatic diseases, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis.PloS one · 2017Pooled it
- Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.Arthritis research & therapy · 2018Trial
- KIM-1: A Non-Invasive Marker for Kidney Injury and Treatment Efficacy in FMF.Mediterranean journal of rheumatology · 2026Article
- Co-occurrence of autoimmune diseases and metabolic disorders in familial mediterranean fever patients: review of literature and case reports.Frontiers in immunology · 2025Review
- Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.Rheumatology (Oxford, England) · 2024Article
- Inflammatory comorbidities ın the largest pediatric Familial Mediterranean fever cohort: a multicenter retrospective study of Pediatric Rheumatology Academy (PeRA)-Research Group (RG).Clinical rheumatology · 2024Article
- Correlation genotype-phenotype:The Pan African medical journal · 2022Article
- Endocan: A Novel Marker for Colchicine Resistance in Familial Mediterranean Fever Patients?Frontiers in pediatrics · 2021Article
- The influence of carrying MEFV gene variants on juvenile systemic lupus erythematosus.Rheumatology international · 2021Article
- Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.The Journal of allergy and clinical immunology · 2020Review
- Recurrent synovitis of hip and MEFV gene related arthritis in children.Pediatric rheumatology online journal · 2020Article
- Periodic fever syndromes: beyond the single gene paradigm.Pediatric rheumatology online journal · 2019Review
- The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of AnatoliaTurkish journal of medical sciences · 2019Article
- Kawasaki disease and familial mediterranean fever gene mutations, is there any link?Open access rheumatology : research and reviews · 2019Article
- A case of adult onset Still's disease with mutations of the MEFV gene who is partially responsive to colchicine.Medicine · 2018Article
- Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease.Arthritis research & therapy · 2017Article
- [Role of genetics in familial Mediterranean fever].Zeitschrift fur Rheumatologie · 2017Review
- Familial Mediterranean fever is no longer a rare disease in Japan.Arthritis research & therapy · 2016Observational
- Update on Pyrin Functions and Mechanisms of Familial Mediterranean Fever.Frontiers in microbiology · 2016Review
- Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever.Pediatric rheumatology online journal · 2015Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPyrin is a newly recognised intracellular regulator of inflammation, and mutations in MEFV, the gene encoding pyrin, are the cause of familial Mediterranean fever.
objectiveTo determine if known mutations of MEFV are associated with rheumatoid arthritis (RA) morbidity or can modify RA severity.
methodsThe frequency of the three most common MEFV mutations: M694V, V726A, and E148Q, was determined in 98 Israeli patients with RA (74 women, 24 men) and compared with that in 100 healthy subjects matched for origin. RA severity was determined using a new clinical score of 126 grades. The median severity score of mutation carrier and non-carrier groups was compared after confounding measures were eliminated by logistic regression.
results17/98 (17%) patients with RA (all women) were heterozygous for common MEFV mutations, predominantly E148Q (12 patients), and one patient was homozygous for the V726A mutation. The overall mutation rate was comparable between patients with RA and healthy subjects. Patients carrying a mutation had a higher median severity score than the non-carrier group (42 v 29, p = 0.0005). The logistic regression model assigned a 15-fold odds ratio for severe RA in carriers, after adjusting for sex, presence of rheumatoid factor, age at onset, and disease duration (n = 97, p = 0.01, 95% CI 1.74 to 128).
conclusionMEFV, and particularly the E148Q mutation, is an independent modifier of the clinical manifestations of RA. This is the second Th1-type autoimmune disease in which MEFV mutations have been shown to aggravate the clinical status.
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