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MEFV mutations in Northwest of Iran: a cross sectional study
Morteza Jabbarpour Bonyadi1, Sousan Mir Najd Gerami2, Mohammad Hossein Somi2
1Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran.
Objectives:
Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Iranian Azerbaijanis with FMF.
Materials And Methods:
Medical records of 1330 Iranian Azerbaijanis who were diagnosed with FMF according to Tel-Hashomer criteria from May 2006 to April 2013 were reviewed and 10 MEFV mutations were found in affected individuals.
Results:
243 patients (18.27%) were homozygous, 370 (27.82%) were compound heterozygous and 717 (53.91%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M694V, E148Q, V726A, M680I, and M694I accounted for 42%, 21%, 19%, 14% and 2% of mutations respectively.
Conclusion:
In our study, M694V was found to be the most prevalent mutation. M694I, the most common mutation among Arabs, is rare in this cohort. Allele frequencies of the common mutations in our studied population have some similarities to those of the Turkish population reported previously. However, M680I is less common in our cohort.
Insights
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder. In Iranian Azerbaijanis, the M694V mutation is the most common cause of FMF, unlike in Arab populations where M694I is prevalent.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder.
- It is characterized by recurrent episodes of fever, serositis (peritonitis, pleurisy), and arthritis.
- FMF predominantly affects Mediterranean populations and is linked to mutations in the MEFV gene.
Purpose of the Study:
- To determine the frequency and distribution of MEFV gene mutations in Iranian Azerbaijanis diagnosed with FMF.
- To compare mutation patterns with other ethnic groups.
Main Methods:
- A retrospective review of medical records for 1330 Iranian Azerbaijanis diagnosed with FMF using Tel-Hashomer criteria (May 2006 - April 2013).
- Analysis of 10 known MEFV mutations in affected individuals.
Main Results:
- The study identified 243 homozygous (18.27%), 370 compound heterozygous (27.82%), and 717 heterozygous (53.91%) patients.
- The most frequent MEFV mutations were M694V (42%), E148Q (21%), V726A (19%), M680I (14%), and M694I (2%).
Conclusions:
- M694V was the most prevalent MEFV mutation in this Iranian Azerbaijani cohort.
- M694I, common in Arabs, was rare in this population.
- Allele frequencies showed similarities to Turkish populations but differed in the prevalence of M680I.
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