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    Does the imbalance between agonistic and antagonistic IL-1 play a role in progression of febrile convulsions?
    (VERDUCI PUBLISHER, 2016) Ozen, F.; Kocak, N.; Yildirim, I. Halil; Hacimuto, G.; Sen, V.
    OBJECTIVE: Inflammation may play an important role in the etiopathology of febrile convulsions (FC). IL-1 beta is an important mediator of inflammation and fever is also important information of FCs. It is suggested that there may be a relationship between polymorphisms of IL-1 beta and FC. The aim of the present study is to investigate the polymorphic stituation of promoter region of IL-1 beta in two sites (-31 and -511) and assess the IL-1 RA VNTR polymorphisms in FC patients in comparison with healthy control groups. MATERIALS AND METHODS: Fifty FC patients and 50 healthy controls (HC) were included in the study. DNA extraction was performed by QIAamp DNA Mini Kit from peripheral blood lymphocytes of all subjects. IL-1 beta promoter polymorphisms were analyzed by PCR-RFLP, IL-1 RA VNTR polymorphisms were analyzed by PCR-agarose gel electrophoresis. RESULTS: Genotype distribution of IL-1 beta promoter region in position -31 was statistically different between FC patients and control groups. Allele I and allele II of IL-1 RA distribution were also statistically different in FC patients and healthy controls. CONCLUSIONS: We have found a significant association between IL-1 RA allele distribution and FC and a poor correlation of T/C substitution at the -31 position of IL-1 beta promoter in FC. Further studies are needed to investigate the gene expression levels and polymorphic situation in same samples.
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    The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures
    (VERDUCI PUBLISHER, 2014) Ozen, F.; Kocak, N.; Kelekci, S.; Yildirim, I. H.; Hacimuto, G.; Ozdemir, O.
    BACKGROUND: Febrile seizures (FS) represent the most common form of childhood seizures that occurs in 2-5 % of the children younger than 6 years. There have been many recent reports on the molecular genetic and pathogenesis of FC. It has been recognized that there is significant genetic component for susceptibility of FC with different reported mutation. FEB1, FEB2, FEB4, SCNA1, SCNA2, GABRG2 and IL-1 beta are related to with febrile convulsions (FCs). Interleukin 1 beta (IL-1 beta) is a cytokine that contributes to febrile inflammatory responses. There are conflicting results on increasing this cytokine in serum during FC. AIM: The determine the association between mutations of MEFV gene product pyrine and febrile seizures. PATIENTS AND METHODS: The study was carried out on 104 children that were diagnosed as FS and 96 healthy children. MEFV gene mutations were detected and analyzed with Pyro-Mark Q24. PCR was performed using the Pyro-Mark PCR Kit and pyrosequencing reaction was conducted on instrument instructions. RESULTS: M694V is the most common mutation in our patient group and we found a significant association between MEFV gene mutations and FSs. Of 104 patients, 68 were heterozygotes for any mutation and 10 patients were compound. 17.7% of control group were heterozygotes for any studied mutation. Statistical analyses showed that there was strongly significant statistical difference between results obtained from FS and control group (X = 46.20, p < 0.0001). CONCLUSIONS: MEFV gene mutations, especially M694V mutation, are positively associated with FSs.