The Frequency of MEFV Gene Mutations for Familial Mediterranean Fever

Öz

Objective: Familial mediterranean fever is an autosomal recessive genetic disease caused by mutations in the MEFV genes. It was aimed to determine the types and frequency of MEFV mutations in Familial mediterrenean fever cases due to the fact that there is a common genetic disease in our region and a low epidemiological data related to the mutations.

Material and Methods: A total of 212 FMF patients with MEFV mutations were included in the study. The data of the patients were retrospectively reviewed. The MEFV mutation analyses were performed using the Next Generation Sequence method.

Results: Of these patients, 116 (54.71%) were female and 96 (45.29%) were male. M694V (34.9%) was the most common mutation type, E148Q (26%), V726A (16%), M68OI (8.3%) were the other common mutation types. When the distribution of patients with MEFV mutation was examined according to gender, it was observed that M694V, E148Q, V726A, M68OI, and R761H mutations were more frequent in men while M694V, E148Q, V726A, M68OI, and P369S mutations were more frequent in women.

Conclusion: In our study which was conducted to determine the frequency of MEFV mutation types, it has been shown that familial Mediterranean fever disease is observed in a high rate in some regions and it has also shown that these different rates can lead to differences between societies. We think that the frequency of MEFV mutation types may change from region to region and from population to population. Therefore, because of changing population and the instability of neighboring countries, large population-based studies aimed to determine the frequency of MEFV mutation types should be made due to the in our region and in our country.

Anahtar Kelimeler

• Familial Mediterranean Fever,mutation,MEFV gene

BÖLGEMİZDEKİ AİLESEL AKDENİZ ATEŞİ HASTALARININ MEFV GEN MUTASYON TİPLERİNİN SIKLIĞI

Öz

Amaç: Ailesel Akdeniz ateşi otozomal resesif geçen ve MEFV genindeki mutasyonların yol açtığı genetik bir hastalıktır. Bölgemizde sık görülen genetik bir hastalık olması ve mutasyonlarla ilgili epidemiyolojik verilerin az olması nedeniyle ailesel Akdeniz ateşi vakalarında, MEFV mutasyonlarının tiplerinin ve sıklığının belirlenmesi amaçlandı.

Gereç ve Yöntemler: Çalışmaya 212 MEFV mutasyonu saptanmış hasta dâhil edildi. Hastaların verileri retrospektif olarak tarandı. MEFV mutasyon analizi Next Generation Sequence yöntemi ile yapıldı.

Bulgular: Çalışma hastalarının 116 (%54.71)’ı kadın ve 96 (%45.29)’ı erkekti. En sık saptanan MEFV mutasyonu M694V (%34.9) idi. E148Q (%26), V726A (%16) ve M68OI (%8.3) diğer sık saptanan mutasyon tipleriydi. MEFV mutasyonu saptanan hastaların cinsiyetlere göre dağılımları incelendiğinde; erkeklerde M694V, E148Q, V726A, M68OI ve R761H mutasyonları, kadınlarda ise M694V, E148Q, V726A, M68OI ve P369S mutasyonlarının daha sık olduğu izlendi.

Sonuç: MEFV mutasyon tiplerinin sıklığını belirlemek amacıyla yapılan çalışmamızda ailevi Akdeniz ateşi hastalığının bazı bölgelerde yüksek oranda gözlendiği ve bu farklı oranların toplumlar arasında farklılıklara yol açabileceği gösterilmiştir. MEFV mutasyon tiplerinin sıklığının bölgeden bölgeye ve popülasyondan popülasyona değişebileceğini düşünüyoruz. Bu nedenle, değişen nüfus ve komşu ülkelerin istikrarsızlığı nedeniyle, bölgemizde ve ülkemizde MEFV mutasyon tiplerinin sıklığını belirlemeye yönelik geniş nüfus temelli çalışmalar yapılmalıdır.

Anahtar Kelimeler

• Ailesel Akdeniz Ateşi,mutasyon,MEFV gen

Kaynakça

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