Evaluation of Superoxide Dismutase and Glutathione Peroxidase Enzyme Polymorphisms in Familial Mediterranean Fever Patients
Ali Akbas 1 * , Hüseyin Ozyurt 1, Semsettin Sahin 1, Ismail Benli 1, Oguzhan Saylan 2, Leyla Aydogan 1, Fatih Ekici 3, Mücahit Egri 4, Bünyamin Kisacik 5, Sümeyya Akyol 6
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1 Department of Biochemistry, Gaziosmanpasa University, Faculty of Medicine, Tokat,Turkey
2 Bartin State Hospital, Biochemistry, Bartin,Turkey
3 Department of Physiology, Yıldırım Beyazıt University, Faculty of Medicine, Ankara,Turkey
4 Department of Public Health, Gaziosmanpasa University, Faculty of Medicine, Tokat,Turkey
5 Department of Rheumatology, Gaziantep University, Faculty of Medicine, Gaziantep,Turkey
6 Department of Medical Biology, Turgut Özal University, Faculty of Medicine, Ankara, Turkey
* Corresponding Author

Abstract

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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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Original Article

https://doi.org/10.15197/ejgm.01463

Eur J Gen Med, 2015 - Volume 12 Issue 4, pp. 339-343

Publication date: 15 Oct 2015

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Article Downloads: 133

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