Clinical significance of MEFV mutations in ankylosing spondylitis

Durmuş, Dilek; Alaylı, Gamze; Cengiz, K.; Yığıt, Serbülent; Cantürk, Ferhan; Bağcı, Hasan

doi:10.1016/j.jbspin.2008.09.011

Cited by 26 publications

(31 citation statements)

References 28 publications

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“…MEFV mutation frequency was found to be increased as compared to controls in 2 of 3 previous studies (9-11). However, in all studies, M684V mutation was the most common mutation detected in AS patients and the frequency of M694V mutation was increased in AS patients as compared to controls (9)(10)(11)17). In this regard, our results are consistent with the previous results.…”

Section: Discussionsupporting

confidence: 92%

“…We did not find any clinical and laboratory difference between MEFV mutation carriers and noncarriers in AS patients. The frequency of MEFV mutation carriers was reported between 22% and 30% in AS patients (9)(10)(11)16). MEFV mutation frequency was found to be increased as compared to controls in 2 of 3 previous studies (9-11).…”

Section: Discussionmentioning

confidence: 84%

“…Data about the impact of MEFV mutations on the clinical course of AS are controversial. In one study, authors reported higher BASDAI/BASFI scores and more hip involvement in MEFV mutation carrier AS patients (11). In other studies, authors either did not assess the clinical significance of MEFV mutations or found no clinical difference between MEFV mutation carrier and noncarrier AS patients (9,10).…”

Section: Discussionmentioning

confidence: 99%

“…The impact of MEFV mutations on the clinical course of chronic inflammatory diseases other than FMF, such as Crohn's disease, childhood arthritis, and rheumatoid arthritis, has been shown (5)(6)(7)(8). The presence of MEFV mutations in AS patients was investigated in previous studies but their association with clinical features of AS is controversial (9)(10)(11). The aim of this study is to define the frequency of MEFV mutations and describe different clinical aspects of MEFV mutation carrier and noncarrier AS patients.…”

Section: Introductionmentioning

confidence: 99%

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MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Maraş¹,

Akdoğan²,

Kısacık³

et al. 2014

Turk J Med Sci

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Maraş¹,

Akdoğan²,

Kısacık³

et al. 2014

Turk J Med Sci

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“…Similarly, Cinar et al 19 demonstrated the MEFV mutation rate in AS patients to be 30.5%, but a control group was not used in that study either. Durmus et al 37 compared the MEFV mutation rate in AS patients with that of healthy individuals, but no statistically significant difference was determined.…”

Section: Discussionmentioning

confidence: 99%

The Role of Mediterranean Fever Mutation in the Clinical Course and Pathogenesis of Ankylosing Spondylitis

et al. 2015

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Objectives:This study aims to investigate the role of Mediterranean fever (MEFV) gene mutations in the pathogenesis and clinical progression of disease in ankylosing spondylitis patients. Patients and methods:The study included 88 patients (60 males, 28 females; mean age 38.7±8.7 years; range 19 to 56 years) diagnosed with ankylosing spondylitis according to modified New York criteria. The patients were evaluated for peripheral joint and hip joint involvement and treatment characteristics. Using multiplex/polymerase chain reaction reverse hybridization method, the presence of 12 different MEFV mutations was investigated. Results: Of 29 patients, heterozygote mutation was detected in 24 (83%), mutations in both alleles were detected in three (10%), and combined heterozygote mutations were detected in two patients (7%). Three most common mutations were M694V (11.3%), E148Q (8%), and V726A (4.5%). In the group with mutations, symptoms had started earlier than in the other group, and the number of peripheral joints involved was higher. When both characteristics were compared with the characteristics of the group that did not have any gene mutations, the differences were statistically significant (p<0.001 and p=0.044, respectively). The highest correlation with the number of peripheral joints involved was determined for M694V mutation (p=0.034), while onset of symptoms at younger age was correlated with E148Q mutation (p=0.010). Conclusion: Based on the findings of this study and our clinical experience, it can be said that the clinical progression of ankylosing spondylitis patients with MEFV gene mutations is more severe, and this suggests that MEFV gene mutations may be contributive to ankylosing spondylitis pathogenesis.

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Increased prevalence of M694V in patients with ankylosing spondylitis: Additional evidence for a link with familial mediterranean fever

Akkoç

Sarı

Akar

et al. 2010

Arthritis & Rheumatism

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Objective. To assess whether there is a statistically significant difference in the frequency of common MEFV allele variants in patients with ankylosing spondylitis (AS) as compared with control patients with rheumatoid arthritis (RA) and with healthy control subjects.Methods. Sixty-two patients with AS, 50 healthy control subjects, and 46 patients with RA were assessed for the presence of MEFV variants. Exon 10 was analyzed by direct sequencing. E148Q was analyzed by restriction endonuclease enzyme digestion (REED) or by direct sequencing when REED analysis failed.Results. The allele frequency of all MEFV variants in the AS group was significantly higher than that in the pooled control group of healthy subjects plus RA patients (15.3% versus 6.8%; P ‫؍‬ 0.021). M694V was the only variant that was significantly more common in the AS group than in the combined or individual control groups (P ‫؍‬ 0.026 for AS patients versus healthy controls, P ‫؍‬ 0.046 for AS patients versus RA patient controls, and P ‫؍‬ 0.008 for AS patients versus healthy and RA patient control groups). The carriage rate of M694V was also significantly higher in the AS patient group than in the combined control group (odds ratio 7.0, P ‫؍‬ 0.014). Neither M694V nor any other MEFV variant showed a correlation with most of the diseaserelated measures examined.Conclusion. We found an increased frequency of MEFV variants in AS patients as compared with healthy controls and with RA patient controls. This was primarily due to the presence of M694V. The roles of other exon 10 variants, as well as the relationship between the variant status and the severity and clinical course of the disease, need to be explored in further studies that include sufficiently large sample sizes.Familial Mediterranean fever (FMF) is an autoinflammatory disease that occurs predominantly in Jewish, Armenian, Turkish, and Middle Eastern Arab populations. It is characterized by recurrent attacks of fever and serositis. The disease is caused by MEFV, which encodes an immunoregulatory protein called pyrin, or marenostrin, and is inherited in an autosomal-recessive manner (1,2).We previously identified 3 patients with ankylosing spondylitis (AS) carrying 2 MEFV variants, 2 of whom were homozygous for M694V (3). None of the patients had any current or previous symptoms suggestive of FMF, and all were HLA-B27 negative. These cases are of particular interest in light of recent reports indicating an increased frequency of sacroiliitis or spondylarthritis in patients with FMF (4,5).

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Clinical significance of MEFV mutations in ankylosing spondylitis

Cited by 26 publications

References 28 publications

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

The Role of Mediterranean Fever Mutation in the Clinical Course and Pathogenesis of Ankylosing Spondylitis

Increased prevalence of M694V in patients with ankylosing spondylitis: Additional evidence for a link with familial mediterranean fever

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