Mortaza BONYADI, Mahdieh YOUNESI, Mandana RAFEEY, Mahnaz SADEGHI SHABESTARI, Fakhrossadat MORTAZAVI

MEFV mutations in Iranian Azari Turkish patients with Henoch?Schönlein purpura

Background/aim: The aim of the current study was to screen the rate of MEFV mutations in Henoch Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group. Materials and methods: The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group. Molecular screening was performed for eight main mutations, namely M694V, M694I, M680I, V726A, E148Q, R761H, P396S, and R408Q, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and sequencing. Results: Out of the 40 studied patients, 27 subjects (67.5%) did not show any mutation, whereas 10 patients (25%) were heterozygotes for one of the following mutations: M694V, M680I, V726A, E148Q. Moreover, three patients (7.5%) were compound heterozygotes for P369S and R408Q. The significant differences between the patient and control groups for M680I, V726A, E148Q, P396S, and R408Q were P = 0.0043, P = 0.0324, P = 0.0145, P = 0.0043, and P = 0.0043, respectively. Furthermore, no significant difference in clinical manifestations was observed between the two groups of patients with and without mutations. Conclusion: Based on the results, MEFV mutations could be considered effective genetic factors for development of HSP in the Iranian Azari Turkish ethnic group.

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