Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis

Koca, Süleyman Serdar; Etem, Ebru Önalan; Işık, Bahar; Yüce, Hüseyin; Özgen, Metin; Dag, Muhammet Sait; Işık, Ahmet Turan

doi:10.1016/j.jbspin.2009.08.006

Cited by 38 publications

(33 citation statements)

References 31 publications

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“…In an MEFV mutation screening study of Yilmaz et al (15) conducted in a Turkish population, like the study of Koca et al (14), the mutation rate obtained from HC was 2.4%. This value was quite low when compared to the value of Koca et al (14). High MEFV mutation rates in studies by Rabinovich et al (12) and Koca et al (14) resulted from E148Q.…”

Section: Discussionmentioning

confidence: 93%

“…As a result of this study, it was suggested that E148Q mutations were not found to be the cause of FMF disease and inflammation and that this mutation should be considered as a "sequence variant." In the study of Koca et al (14) in which RA patients and HC were compared, 8 total mutations were analyzed. The mutation rate of MEFV was defined as 25.2% and 23.3% in RA patients and HC, respectively.…”

Section: Discussionmentioning

confidence: 99%

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The Prevalence of “MEFV” Gene Mutations in Rheumatoid Arthritis Patients Inhabiting the Van Province and Surroundings

Özkol¹,

Yildirim²,

Tülüce³

et al. 2014

Turk J Phys Med Rehab

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Objective: An inhibitory protein of inflammation pyrin/marenostrin is encoded by the Mediterranean fever (MEFV) gene. Mutations of this gene are known to cause familial Mediterranean fever (FMF) disease. A relation between mutations of the MEFV gene and rheumatic diseases was also suggested. The aim of the present study was to investigate the frequency of four common mutations of the MEFV gene in 110 rheumatoid arthritis (RA) patients and 98 healthy controls (HC) inhabiting a region of eastern Turkey. Material and Methods: DNA extraction was realized by salting out method from peripheral blood lymphocytes of all subjects included in the study. Polymerase chain reactions (PCR) amplification of exon 10 was performed by the appropriate primers, and single-nucleotide polymorphisms (SNPs) were detected by specific restriction endonucleases recognizing the mutational DNA or wild-type DNA regions. Results: Mutation frequency of RA patients was higher than in HC, but this result was not statistically significant (p>0.05). Conclusion:The MEFV mutation rate of RA patients living in eastern Turkey was not significantly different from HC. Further studies are needed to investigate other gene mutations that may affect RA etiopathogenesis.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

The Prevalence of “MEFV” Gene Mutations in Rheumatoid Arthritis Patients Inhabiting the Van Province and Surroundings

Özkol¹,

Yildirim²,

Tülüce³

et al. 2014

Turk J Phys Med Rehab

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“…35 Many studies have been conducted on the relationship between various diseases and FMF-related MEFV gene variation. [5][6][7][8][9]18 Kalyoncu et al suggested that heterozygous carriership for MEFV gene variation causes an increase in the frequency/severity of inflammation, and changes in health in this process in healthy persons without FMF. 36 In another study, patients diagnosed with sepsis were shown to be carriers of MEFV gene variation, which was demonstrated by inflammatory findings and bad disease course compared to those who were not carriers.…”

Section: Discussionmentioning

confidence: 99%

“…1 For this reason, studies on this issue suggest that heterozygous carrier individuals for MEFV gene variations show higher acute phase response, which affects the course of other inflammatory diseases. [5][6][7][8][9] Gout is a clinical syndrome which is caused by monosodium urate (MSU) crystals that are associated with increased uric acid concentration. 10 The disease typically progresses with attacks of self-limiting arthritis.…”

Section: Introductionmentioning

confidence: 99%

A variant allele of the Mediterranean‐fever gene increases the severity of gout

et al. 2016

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Background: Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance. The Mediterranean fever (MEFV) gene is responsible for FMF and encodes pyrin that suppresses the inflammatory response. Most of the FMF-related mutations have been identified in exon 2 (e.g., E148Q and R202Q) and exon 10 (M680I, M694V, M694I and V726A) of the MEFV gene, and each missense mutation is known to increase production of interleukin-1, a proinflammatory cytokine. Our aim was to investigate effects of MEFV variant alleles on the manifestations of gout.

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“…Studies (8,9) have demonstrated that MEFV mutations are accompanied by a more severe course of disease in both FMF and RA. While renal amyloidosis had appeared in the first reported case with these two diseases, our patient was resistant to conventional treatment for RA.…”

Section: Discussionmentioning

confidence: 99%

Successful Treatment with Etanercept of Rheumatoid Arthritis Occurring in a Patient with Familial Mediterranean Fever

Alpaycı¹,

Yazmalar²

2014

Turk J Phys Med Rehab

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ÖzetAilesel Akdeniz ateşi (AAA), hayat boyu tekrarlayan ve kendini sınırlayan ateş ve sistemik inflamasyon atakları ile karakterize kalıtsal bir hastalıktır. Romatoid artrit ise, çoğunlukla el bileklerini ve eklemlerini etkileyen eroziv, kronik, inflamatuvar bir hastalıktır. Ailesel Akdeniz Ateşi olan bir hastada romatoid artritin gelişmesi oldukça nadirdir. Bildiğimiz kadarıyla, bu durum daha önce sadece bir kez bildirilmiştir. Burada, AAA seyri sırasında romatoid artrit gelişen 31 yaşında bir kadın hastayı sunuyoruz. Hastada, AAA düzenli kolşisin kullanımı ile kontrol altında iken, romatoid artrit ise klasik tedavilere dirençli idi. Etanersept tedavisi hastamızda tam remisyon sağladı. Anahtar Kelimeler: Ailesel Akdeniz ateşi, romatoid artrit, etanersept AbstractFamilial Mediterranean fever (FMF) is an inherited disorder characterized by lifelong recurrent, self-limiting attacks of fever and systemic inflammation. Rheumatoid arthritis is an erosive, chronic, inflammatory disease that affects mainly the wrists and joints of the hands. Development of rheumatoid arthritis in a patient with FMF is extremely rare. To our knowledge, this condition has been reported only once previously. Here, we present a 31-year-old female patient who developed rheumatoid arthritis during the course of FMF. In the patient, while the FMF was under control with regular use of colchicine, the rheumatoid arthritis was resistant to conventional therapies. Etanercept treatment provided complete remission in our patient.

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Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis

Cited by 38 publications

References 31 publications

The Prevalence of “MEFV” Gene Mutations in Rheumatoid Arthritis Patients Inhabiting the Van Province and Surroundings

The Prevalence of “MEFV” Gene Mutations in Rheumatoid Arthritis Patients Inhabiting the Van Province and Surroundings

A variant allele of the Mediterranean‐fever gene increases the severity of gout

Successful Treatment with Etanercept of Rheumatoid Arthritis Occurring in a Patient with Familial Mediterranean Fever

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