Ayse Feyda Nursal1, Akin Tekcan2, Suheyla Uzun Kaya3, Ozlem Sezer4, Serbulent Yigit5. 1. Giresun University, Faculty of Medicine, Department of Medical Genetic, Giresun, Turkey. 2. Ahi Evran University, School of Health, Kirsehir, Turkey. Electronic address: akintekcan@hotmail.com. 3. Gaziosmanpasa University, Faculty of Medicine, Department of Internal Medicine, Tokat, Turkey. 4. Samsun Training and Research Hospital, Genetic Clinics, Samsun, Turkey. 5. Gaziosmanpasa University, Faculty of Medicine, Department of Medical Biology, Tokat, Turkey.
Abstract
OBJECTIVE: Familial Mediterranean Fever (FMF) is an autosomal recessively inherited auto inflammatory disorder. MEFV gene, causing FMF, encodes pyrin that is associated with the interleukin-1 (IL-1) related inflammation cascade. The aim of this study was to investigate the relationship of interleukin-1 receptor antagonist (IL-1Ra) and interleukin-4 (IL-4) polymorphisms with the risk of FMF in the Turkish population. METHODS: This study included 160 patients with FMF (74 men, 86 women) and 120 healthy controls (50 men, 70 women), respectively. Genotyping of IL-1Ra rs2234663 polymorphism was evaluated by gel electrophoresis after polymerase chain reaction (PCR). The IL-4 rs79071878 polymorphism was determined by PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis. The results of analyses were evaluated for statistical significance. RESULTS: There was no significant difference in IL-1Ra genotype and allele distributions between FMF and the control groups (p>0.05). However, a significant association was observed between FMF patients and control groups according to IL-4 genotype distribution (p=0.016), but no association was found in the allelic frequency of IL-4 between FMF patients and the controls (p>0.05, OR: 1.131, CI 95%: 0.71-1.81). CONCLUSIONS: The IL-4 rs79071878 polymorphism, was associated whereas the IL-1Ra rs2234663 polymorphism was not associated with FMF risk in the Turkish population. Larger studies with different ethnicities are needed to determine the impact of IL-1Ra and IL-4 polymorphism on the risk of developing FMF.
OBJECTIVE:Familial Mediterranean Fever (FMF) is an autosomal recessively inherited auto inflammatory disorder. MEFV gene, causing FMF, encodes pyrin that is associated with the interleukin-1 (IL-1) related inflammation cascade. The aim of this study was to investigate the relationship of interleukin-1 receptor antagonist (IL-1Ra) and interleukin-4 (IL-4) polymorphisms with the risk of FMF in the Turkish population. METHODS: This study included 160 patients with FMF (74 men, 86 women) and 120 healthy controls (50 men, 70 women), respectively. Genotyping of IL-1Rars2234663 polymorphism was evaluated by gel electrophoresis after polymerase chain reaction (PCR). The IL-4rs79071878 polymorphism was determined by PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis. The results of analyses were evaluated for statistical significance. RESULTS: There was no significant difference in IL-1Ra genotype and allele distributions between FMF and the control groups (p>0.05). However, a significant association was observed between FMFpatients and control groups according to IL-4 genotype distribution (p=0.016), but no association was found in the allelic frequency of IL-4 between FMFpatients and the controls (p>0.05, OR: 1.131, CI 95%: 0.71-1.81). CONCLUSIONS: The IL-4rs79071878 polymorphism, was associated whereas the IL-1Rars2234663 polymorphism was not associated with FMF risk in the Turkish population. Larger studies with different ethnicities are needed to determine the impact of IL-1Ra and IL-4 polymorphism on the risk of developing FMF.