The Frequency of MEFV Gene Mutations for Familial Mediterranean Fever

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