ArticleDigestive diseases and sciences2006
Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect?
Article in Digestive diseases and sciences, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 74 citations in OpenAlex.
- Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease.Gastro hep advances · 2026Article
- Inflammatory bowel disease in paediatric rheumatological diseases.Clinical rheumatology · 2025Article
- Familial Mediterranean Fever as a Cause of Recurrent Pleurisy in a Child With Crohn's Disease: A Case Report.Case reports in pulmonology · 2025Article
- Potential association between M694V homozygous mutation in familial Mediterranean fever and eosinophilic intestinal inflammation: a pediatric case series.Frontiers in pediatrics · 2024Article
- Familial Mediterranean fever in Armenian children with inflammatory bowel disease.Frontiers in pediatrics · 2023Article
- Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2021Article
- FMF is not always "fever": from clinical presentation to "treat to target".Italian journal of pediatrics · 2020Review
- Interleukin-18 in Health and Disease.International journal of molecular sciences · 2019Review
- Pyrin Inflammasome Regulates Tight Junction Integrity to Restrict Colitis and Tumorigenesis.Gastroenterology · 2018Article
- Endoscopic findings in patients with familial Mediterranean fever and dyspeptic symptoms.Przeglad gastroenterologiczny · 2018Article
- The association of endoplasmic reticulum aminopeptidase-1 (ERAP-1) with Familial Mediterranean Fever (FMF).United European gastroenterology journal · 2016Article
- Update on Pyrin Functions and Mechanisms of Familial Mediterranean Fever.Frontiers in microbiology · 2016Review
- Non-canonical manifestations of familial Mediterranean fever: a changing paradigm.Clinical rheumatology · 2015Review
- Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease.Turk pediatri arsivi · 2014Article
- The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery.The Korean journal of internal medicine · 2013Article
- The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease.Rheumatology international · 2013Article
- Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population.Journal of molecular neuroscience : MN · 2013Article
- MEFV Variants in Patients with PFAPA Syndrome in Japan.The open rheumatology journal · 2013Article
- An infant with severe refractory Crohn's disease and homozygous MEFV mutation who dramatically responded to colchicine.Rheumatology international · 2012Article
- MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients.Rheumatology international · 2011Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The MEFV gene, responsible for familial Mediterranean fever (FMF), is involved in inflammatory reactions through altered leukocyte apoptosis, secretion of interleukin (IL)-1beta, and activation of the NF-kappa B pathway. Ulcerative Colitis (UC) and FMF are both characterized by a recurrent pattern of presentation with periods of remission and flares associated with neutrophilic infiltration at the site of injury. The aim of this study was to investigate the possible correlation between UC and MEFV gene alterations. Twenty-five consecutive, first-diagnosed and untreated UC patients, 28 control patients with rheumatoid arthritis, and 65 normal individuals were analyzed. Nonisotopic RNase Cleavage Assay (NIRCA) was applied as a first-step mutational screening method of exons 10 and 2 of MEFV gene; direct sequencing was subsequently performed to confirm the results. MEFV mutations were identified in 7 (3 M694V/0, 2 M680I/0, 1 E148Q/E148Q, and 1 A744S/0) out of 25 UC patients versus 1 (M694V/0) out of 28 rheumatoid arthritis patients (P = .0199) and 1 (M694V/0) out of 65 healthy controls (P = .0004). Four out of 7 patients with MEFV mutations had inflammatory arthritis, a clinical finding that was not observed in the 18 UC patients with unmutated MEFV (P = .0028). Patients with UC almost universally carried the T A C G MEFV exon 2 haplotype in contrast with normal individuals (P < .0001) and FMF patients (P = .0310). In conclusion the increased frequency of mutations of MEFV in UC patients, especially in those with episodic arthritis, suggests a possible modifying effect of MEFV in the disease process and its localization within the joint. The difference in distribution of MEFV exon 2 haplotypes between UC patients and both FMF patients and normal individuals, suggests that UC patients constitute a genetically distinct population. Larger, longitudinal studies are needed to confirm these initial findings.
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