MEFV gene variation R202Q is associated with metabolic syndrome.

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.

Neutrophil/lymphocyte ratio and mean platelet volume in Behçet's disease.

OBJECTIVE: With this retrospective study, we researched the effects of mean platelet volume (MPV) and neutrophil/lymphocyte ratio (NLR) on the activity of Behçet's disease and susceptibility to thrombosis. PATIENTS AND METHODS: One hundred eighty-six patients with Behçet's disease, who met the inclusion criteria, were separated into two groups: 120 patients had active Behçet's disease (Group I) and 66 patients with inactive Behçet's disease (Group II). 79 healthy subjects as controls were included in the study. RESULTS: MPV was similar between all three groups. CRP (C reactive protein) was statistically higher in the active BD group when compared to the inactive BD group and the control group. CRP of the inactive BD and the healthy control group were similar. In addition, erythrocyte sedimentation rate (ESR) was found higher than the control group in both active and inactive BD groups, whereas ESR of the active BD group was higher than the inactive BD group. N/L ratio was found statistically higher in the active BD group when compared to inactive BD and healthy control groups, while the N/L ratio of inactive BD and healthy control groups were found similar to each other. While MPV, CRP, and NLR didn't statistically differ between active BD subgroups with and without thrombosis, ESR was statistically and significantly higher in the active BD group with thrombosis when compared to the active BD group without thrombosis. CONCLUSIONS: The data obtained from the present study showed that the patients with BD are exposed to chronic inflammation. And the N/L ratio may be a simple, inexpensive, and convenient diagnostic marker of active BD.