Evaluation of Superoxide Dismutase and Glutathione Peroxidase Enzyme Polymorphisms in Familial Mediterranean Fever Patients    
Yazarlar (10)
Ali Akbaş
Hüseyin Özyurt
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Şemsettin Şahin
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
İsmail Benli
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Saylan Oğuzhan
Dr. Öğr. Üyesi Leyla AYDOĞAN Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Fatih Ekici
Yıldırım Beyazıt Üniversitesi, Türkiye
Prof. Dr. Mücahit EĞRİ Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Bünyamin Kısacık
Gaziantep Üniversitesi, Türkiye
Sümeyya Akyol
Turgut Özal Üniversitesi, Türkiye
Makale Türü Açık Erişim Özgün Makale
Makale Alt Türü SCOPUS dergilerinde yayınlanan tam makale
Dergi Adı European Journal of General Medicine
Dergi ISSN 1304-3897
Dergi Tarandığı Indeksler SCOPUS, ULAKBİM, TURKMEDLİNE
Makale Dili İngilizce
Basım Tarihi 03-2015
Cilt No 12
Sayı 4
Sayfalar 339 / 343
DOI Numarası 10.15197/ejgm.01463
Makale Linki file:///C:/Users/User/Downloads/EJGM-01463.pdf
Özet
Familial Mediterranean Fever (FMF) is a fairly common inflammatory disease in communities with mediterranean origin. It is characterized with autosomal recessive, recurrent short-term episodes of fever, peritoneal, pleural, synovial membrane involvement and skin lesions. The aim of the present study was to investigate possible associations between FMF and Ala-9Val polymorphism of MnSOD and Pro198Leu polymorphism of GPx1. The study included 129 FMF patients who has mutations (E148Q, P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H) in the heterozygous or homozygous form and 95 healthy subjects. To identify MnSOD Ala-9Val and GPx1 Pro198Leu SNPs, genotyping was performed using PCR amplification, and polymorphisms were detected with hybridization probes labeled with fluorescent dyes. Genotype and allele frequencies of Ala-9Val polymorphism of MnSOD and Pro198Leu polymorphism of GPx1 were detected. The MnSOD Val allele frequency is 132 (51.16%) in the FMF and 115 (60.52%) in the control group (p<0.05). The GPx1 Leu allele is 83 (32.17%) in the FMF and 61 (32.11%) in the control group (p=0.988). No significant differences were found between genotype frequencies of GPx1 and MnSOD polymorphisms. According to our findings MnSOD Val allele may be a genetic factor involved in the pathogenesis of FMF. The fact that there are only few studies in literature, we need more patients, other enzyme levels and works about polymorphism to support our study.
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