The Frequency of MEFV Gene Mutations for Familial Mediterranean Fever

Year 2019, , 254 - 260, 31.08.2019

Muharrem Bayrak , Kenan Çadırcı , Oğuzhan Yaralı

https://doi.org/10.24938/kutfd.548831

Cited By: 2

Abstract

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.

Keywords

Familial Mediterranean Fever, mutation, MEFV gene

BÖLGEMİZDEKİ AİLESEL AKDENİZ ATEŞİ HASTALARININ MEFV GEN MUTASYON TİPLERİNİN SIKLIĞI

Abstract

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.

Keywords

Ailesel Akdeniz Ateşi, mutasyon, MEFV gen

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