Association of the MEFV Gene Variations With Inflammatory Bowel Disease in Turkey

Akyüz, Filiz; Beşışık, Fatih; Ustek, Duran; Ekmekçi, Cumhur Gökhan; Uyar, Aytül F.; Pınarbaşı, Binnur; Demır, Kadir; Özdil, Sadakat; Kaymakoğlu, Sabahattin; Boztaş, Güngör; Mungan, Zeynel; Gül, Ahmet

doi:10.1097/mcg.0b013e3182597992

Cited by 38 publications

(32 citation statements)

References 21 publications

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“…In addition, the frequency of other inflammatory diseases (including juvenile rheumatoid arthritis) increases in conditions where IBD accompanies FMF (10)(11)(12). The fact that MEFV gene mutations are found with an increasing frequency in these inflammatory diseases supports this (13). In previous studies, it was found that MEFV gene mutations were observed with a higher rate in patients with a diagnosis of IBD compared to the population and molecular analysis of the MEFV gene may be considerably beneficial in terms of clinical practices (13,14).…”

Section: Introductionsupporting

confidence: 57%

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Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Beşer¹,

Çokuğraş²,

Kutlu³

et al. 2014

Turk Arch Ped

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Aim: Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) carry similar clinical and biological properties. Both are characterized with chronic inflammation attacks and neutrophil migration and impaired apoptosis mechanism are present in the areas of damage in both conditions. In our study, we aimed to determine the frequency of association of FMF in patients with IBD, to compare the demographic, clinical, laboratory and treatment response properties in these patients with the ones in other IBD patients and to determine association of FMF especially in treatment-resistant patients. Material and Methods:Fifty-three patients who were being followed up with a diagnosis of IBD aged between 0 and 18 years were included in the study. The patient group included the patients who were diagnosed with IBD according to clinical, serological, endoscopic and histopathological criteria, who were being followed up and whose therapies were continuing. Genetic analysis in terms of MEFV gene mutations was performed in all patients with a diagnosis of IBD. Acute phase reactants, complete blood count, immunoglobulin levels, stool analysis, "perinuclear anti-neutrophil cytoplasmic antibodies" (pANCA) and "anti-Saccharomyces cerevisiae antibodies" (ASCA) were studied at the time of diagnosis. The diagnosis of FMF was made according to detailed history, physical examination findings, laboratory tests and the results of genetic analyses in terms of MEFV gene mutations in accordance with the criteria defined in 2009. Results:We found that FMF accompanied in 14 (26.4%) of the patients who had a diagnosis of IBD. 3 of these 14 patients in whom FMF accompanied were being followed up with a diagnosis of Crohn disease and 11 were being followed up with a diagnosis of ulcerative colitis. All of these patients had MEFV gene mutation. These mutations included M694V (50%), K695R (21.4%), M680I (14.3%) and R202Q (14.3%) in order of frequency. When the laboratory data were compared between the patients who had a diagnosis of IBD alone and who had a diagnosis of IBD plus FMF, it was observed that the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) values were statistically significantly higher in the IBD+FMF group.Conclusions: FMF is a common condition in the Turkish population and M694V mutation is found most commonly. In our study, this status did not change in cases where FMF accompanied IBD, but K695R mutation was found more frequently compared to FMF alone. We think that it should be kept in mind that other inflammatory conditions including mainly FMF may accompany IBD, if a case of IBD does not have an expected course or is resistant to treatment. (Türk Ped Arş 2014; 49: 198-202)

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Section: Introductionsupporting

confidence: 57%

“…CRP was found to be higher than normal in 13 FMF is a common condition in the Turkish population and M694V mutation is found with the highest rate. Altough this status did not change when FMF accompanied IBD in our study, K695R mutation was found with a higher rate compared to the status of presence of only FMF.…”

Section: 4% N=14mentioning

confidence: 99%

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Beşer¹,

Çokuğraş²,

Kutlu³

et al. 2014

Turk Arch Ped

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“…[23] In an adult study, MEFV mutation was found in 25% of the patients with IBD, which was higher than that in the healthy controls. [24,25] Sometimes, patients with FMF presented with bloody diarrhea, weight loss or other symptoms of IBD. [26] Our patients who were treated with colchicine presented with symptoms of IBD.…”

Section: Discussionmentioning

confidence: 99%

Inflammatory bowel disease in Turkish children

Çakır¹,

Ünal²,

Dinler

et al. 2015

World J Pediatr

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“…CD and ulcerative colitis (UC) are characterized by dysregulation of immune response, and genetic variations associated with autoinflammatory disorders, such as MEFV mutations, may modify the clinical course of IBD [12][13][14][15]. Our group previously showed that the FMF-associated MEFV variants could be observed more frequently in IBD patients (UC 28%, CD 22.6%) than Turkish healthy controls (9.9%) [15]. The contribution of most-penetrant M694V variation was higher compared to other MEFV variations (14.5% in CD, 17.3% in UC, and 3% in controls, OR = 6.039, 95% CI 1.7-20.7, p = 0.002).…”

Section: Discussionmentioning

confidence: 99%

Small bowel mucosal damage in familial Mediterranean fever: results of capsule endoscopy screening

Demır

Akyüz

Göktürk

et al. 2014

Scandinavian Journal of Gastroenterology

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Association of the MEFV Gene Variations With Inflammatory Bowel Disease in Turkey

Abstract: The results of this study suggest that the MEFV variations may be an additional susceptibility factor for IBD in certain parts of the world where the carrier rate is high, and the genetic background of the IBD patients may show regional changes.

Cited by 38 publications

References 21 publications

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Inflammatory bowel disease in Turkish children

Small bowel mucosal damage in familial Mediterranean fever: results of capsule endoscopy screening

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