Molecular Analysis of MEFV Gene Polymorphisms and Mutations in Iranian Azeri Patients with Rheumatoid Arthritis

Some genes have an unproven role in the pathogenesis of Rheumatoid arthritis (RA). One of these suspected genes is the Mediterranean fever (MEFV) gene. MEFV is responsible for familial Mediterranean fever (FMF). Currently, more than 100 FMF-associated mutations of the MEFV gene have been identified. With most located on exon 10, five of these: E148Q, M680I, M694V, M694I, and V726A account for most of the cases of FMF worldwide (1). A result of a study showed that the E148Q, V726A, M680I and M694I mutations are the most common mutations in the Azeri population of Iran with FMF (2). The MEFV mutation carrier rate in the area which shows a high frequency of FMF is also high. The E148Q was the most common mutation followed by V726A. The other common aforementioned mutations were not found in this study. The MEFV gene mutations cause an upregulation of the inflammatory response, which most likely favors inflammation in general. To the best of our knowledge, no study has been performed on the prevalence of MEFV gene mutations in RA in the Azeri population of Iran. In this study, we investigated the MEFV mutations on exon 2 and 10 in 50 patients with RA by PCR and direct sequencing and then compared disease activity between mutation carriers and noncarriers in the Azeri population of Iran. None of the participants had clinical manifestations or a family history of FMF. The RA patients were assigned to two groups of MEFV mutation and polymorphism carriers and non-carriers. Disease activity was measured using the DAS28 score to compare the two groups. The demographical characteristics of the patients are summarized in Table 1. We identified 33 heterozygous patients. None of our study patients had any clinical manifestations or a family history of FMF. We found 3 polymorphisms and 2 mutations in Exon 2 and 4 mutations in Exon 10 of RA patients.