Evaluation of Superoxide Dismutase and Glutathione Peroxidase Enzyme Polymorphisms in Familial Mediterranean Fever Patients

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dc.contributor.authorAkbas, Ali
dc.contributor.authorOzyurt, Huseyin
dc.contributor.authorSahin, Semsettin
dc.contributor.authorBenli, Ismail
dc.contributor.authorSaylan, Oguzhan
dc.contributor.authorAydogan, Leyla
dc.contributor.authorEkici, Fatih
dc.date.accessioned2025-10-24T18:09:36Z
dc.date.available2025-10-24T18:09:36Z
dc.date.issued2015
dc.departmentMalatya Turgut Özal Üniversitesi
dc.description.abstractFamilial 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.
dc.identifier.doi10.15197/ejgm.01463
dc.identifier.endpage343
dc.identifier.issn1304-3889
dc.identifier.issn1304-3897
dc.identifier.issue4
dc.identifier.scopus2-s2.0-84949800327
dc.identifier.scopusqualityN/A
dc.identifier.startpage339
dc.identifier.urihttps://doi.org/10.15197/ejgm.01463
dc.identifier.urihttps://hdl.handle.net/20.500.12899/3736
dc.identifier.volume12
dc.identifier.wosWOS:000382751900010
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherModestum Ltd
dc.relation.ispartofEuropean Journal Of General Medicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20251023
dc.subjectFMF; SOD; GPx; polymorphism
dc.titleEvaluation of Superoxide Dismutase and Glutathione Peroxidase Enzyme Polymorphisms in Familial Mediterranean Fever Patients
dc.title.alternativeAilesel akdeniz ateşi hastalarında süperoksid dismutaz ve glutatyon peroksidaz enzim polimorfizmlerinin değerlendirilmesi
dc.typeArticle

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