Familial Mediterranean fever—A review

Shohat, Mordechai; Halpern, Gabrielle J.

doi:10.1097/gim.0b013e3182060456

Cited by 154 publications

(126 citation statements)

References 122 publications

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“…The major symptoms are fever, abdominal pain, chest pain, skin eruption, and joint pain. The minor signs are an increased erythrocyte sedimentation rate, leukocytosis, and an elevated serum concentration of fibrinogen (Shohat and Halpern, 2011). FMF notoriously difficult to diagnose until mutations in the MEFV gene were identified, which are differently associated with the severity of the disease phenotype.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

Zamani

Acar²,

Yıldırım³

2013

Genet. Mol. Res.

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ABSTRACT. The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were analyzed. Genomic DNA from 304 patients was tested for 6 common mutations located in exon 2 (E148Q), and exon 10 (M680I, M694V, M694I, V726A, R761H) by real-time PCR while 1275 patients were tested for 17 mutations located in exon 2 (E148Q), and exon10 [M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, S675N, G678E, M680L, T681I, M694L, K695M, R717S, I720M, V722M] by pyrosequencing. The most frequent mutation was M694V, followed by M680I, E148Q, and V726A. Ten mutations in the panel were not detected in any patients. Finally, we compared our results with those of other centers in Turkey to contribute to the identified spectrum of Turkish MEFV mutations and we discuss which MEFV mutations are informative for evaluating an FMF patient.

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Section: Discussionmentioning

confidence: 99%

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

Zamani

Acar²,

Yıldırım³

2013

Genet. Mol. Res.

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“…3 These studies also indicate that different MEFV mutations could have different phenotypic presentations either with or without common FMF symptoms; therefore, the consequences/symptoms of MEFV mutations differ from person to person, and the disorder could manifest itself in a personalized manner.…”

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confidence: 90%

Patient management and the association of less common familial Mediterranean fever symptoms with other disorders

Moradian

Sarkisian

Amaryan

et al. 2014

Genetics in Medicine

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“…AS hastalarında MEFV mutasyonlarının sıklığı, sağlıklı bireylere oranla daha fazla gözlenmektedir [16]. AAA çoğunlukla Türk, Yahudi, Ermeni ve Orta Doğu Arap popülasyonunda görülen otoinflamatuar bir hastalık olup, serozit, peritonit ve ataklar şeklinde tekrarlayan ateşle karakterize edilmektedir [17]. Otozomal resesif kalıtılan AAA'nın ülkemizdeki prevalansı 1/1075'tir [18].…”

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Association of HLA-B27, MEFV gene mutations, ERAP1, IL12B and IL23R gene polymorphisms with ankylosing spondylitis.

Pekacar¹,

Akdoğan²,

Hayran³

et al. 2014

Turk J Bioch

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][Association of HLA-B27, MEFV gene mutations, ERAP1, IL12B and IL23R gene polymorphisms with ankylosing spondylitis] ABSTRACT Objective: Genetic factors have an important role in the pathogenesis of ankylosing spondylitis (AS). The aim of this study was to analyse the association of HLA-B27, MEFV mutations, IL12B, IL23R and ERAP1 polymorphisms in Turkish patients with ankylosing spondylitis. Methods: One hundred AS patients and 100 healthy controls were examined for HLA-B27, 12 common MEFV mutations, IL12B (rs3213120), IL23R (rs11209026), and ERAP1 (rs30187) polymorphisms (SNPs) by allele specific PCR, revers hybridization and sequencing techniques. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated. Results: Our results confirmed that HLA-B27 was strongly associated with AS (69% vs 7% in controls) (p<0.001, OR: 29.6, 95% CI: 12.3-71.1). We also found an association between uveitis and HLA-B27 positivity in AS patients (p=0.004). The MEFV mutations were significantly frequent in AS patients (40%) compared with healthy controls (22%) (p=0.006, OR: 2.56, 95% CI: 1.3-4.4). We found that ERAP1 rs30187 was significantly associated with AS patients (p=0.033). The rs30187 CT genotype was associated with increased AS risk compared to CC or TT genotypes (OR: 2.1, 95% CI: 1.2-3.7). However, in patients with AS carrying the C allele increased the risk 1.9 times (95% Cl: 1.1-3.3). There was no association with AS and IL12B (rs3213120) and IL23R (rs11209026). There were no significant differences between HLA-B27, MEFV mutations, ERAP1 (rs30187) and Bath AS Disease Activity Index (BASDAI), Bath AS Functional Index (BASFI) scores. Conclusion: This study showed that HLA-B27, MEFV mutations and ERAP1 (rs30187) are AS genetic susceptibility genes. Interactions between ERAP1 and HLA-B27 and MEFV mutations may play an important role in the AS pathogenesis.

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Familial Mediterranean fever—A review

Cited by 154 publications

References 122 publications

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

Patient management and the association of less common familial Mediterranean fever symptoms with other disorders

Association of HLA-B27, MEFV gene mutations, ERAP1, IL12B and IL23R gene polymorphisms with ankylosing spondylitis.

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