MEFV gene variation R202Q is associated with metabolic syndrome

A. Balkarli, M. Akyol, E. Tepeli, L. Elmas, V. Cobankara

Department of Internal Medicine, Division of Rheumatology, Antalya Training and Research Hospital, Muratpaşa, Antalya, Turkey. drayseayan@yahoo.com.tr

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• Metabolism

OBJECTIVE: MEFV (Mediterranean fever) gene encoding pyrin regulates inflammatory responses. It has been shown that MEFV gene variations are associated with higher acute phase responses and altered course in the different inflammatory diseases. MEFV gene variations may affect the course of metabolic syndrome components.

PATIENTS AND METHODS: This study included 50 patients with metabolic syndrome and 50 unrelated healthy controls. Genomic DNAs were isolated from patients and healthy controls with standard methods and analysis of exon 2 and 10 of MEFV gene was performed by using Sanger sequencing method.

RESULTS: The MEFV gene variations were detected in 21 patients with metabolic syndrome (42%) and 12 healthy controls (24%) (p=0.55). The frequency of MEFV gene variations with high penetrance (i.e. M694V, M680I, V726A) was similar between patients and healthy controls (p>0.05). We found that R202Q was more frequent in the patient group (n=11 [22%] vs. n=3 [6%]) and associated with metabolic syndrome (p: 0.021; OR: 4.42; CI95%: 1.15-16.97). When patients with and without MEFV gene variations were compared, no significant difference was found in laboratory and clinical parameters.

CONCLUSIONS: To best of our knowledge, this is the first study indicating an association between MeS and R202Q mutation of MEFV gene. Familial Mediterranean fever (FMF) related MEFV gene variations may contribute to the pathogenesis of metabolic syndrome.

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