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

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.

No evidence for a major effect of three common polymorphisms of the GPx1, MnSOD, and CAT genes on PCOS susceptibility

“…In vitro studies GPx1 Pro198Leu studies revealed that GPx1 activity is significantly lower in the transfected bovine aortic endothelial cells expressing 198Leu variant, compared with those expressing 198Pro variant . The studies conducted on human showed different results; for instance, some studies reported a significant association between GPx1 Pro198Leu polymorphism and bladder cancer, prostate cancer, hepatocellular carcinoma, and also breast cancer; although consistent with our results no association has been found between this polymorphism and coronary heart disease, Familial mediterranean fever, gastric cancer, colorectal cancer, and basal cell carcinoma…”

Influence of Oxidative Stress-Related Genes on Susceptibility to Fibromyalgia

“…In agree with our result for rs10432782, a previous study that examined SNPs in genes encoding two antioxidant enzymes failed to find significant differences for MnSOD2 and glutathione peroxidase 1 (GPX1) between FM patients and controls (Akbas et al, 2014). The same authors reported higher SOD enzyme activity in FM patients compared to controls (Akbas et al, 2014). Nevertheless, results regarding SOD enzyme activity in patients with FM are controversial, because other authors reported lower SOD activity (Bagis et al, 2005;La Rubia et al, 2013) and even unchanged SOD activity in patients with FM in comparison to healthy controls (Koca et al, 2018;Toker et al, 2014).…”

“…In agree with our result for rs10432782, a previous study that examined SNPs in genes encoding two antioxidant enzymes failed to find significant differences for MnSOD2 and glutathione peroxidase 1 (GPX1) between FM patients and controls (Akbas et al, 2014). The same authors reported higher SOD enzyme activity in FM patients compared to controls (Akbas et al, 2014).…”

“…Recent genome-wide association studies (GWAS) investigated genes potentially involved in the pathogenesis of FM highlighting that genetic factors are possibly responsible for up to 50% of the disease susceptibility (D'Agnelli et al, 2019). A previous study analyzed some SNPs in genes encoding antioxidant enzymes (Ala9Val in MnSOD2 and Pro198Leu in GPX1) in patients with FM without finding differences between FM patients and controls (Akbas et al, 2014).…”

Higenamine protects neuronal cells from oxygen‐glucose deprivation/reoxygenation‐induced injury

“…16 SOD and GPx are antioxidant enzymes to protect cells from oxidative damage. 17 Oxidative stress is defined as imbalance between ROS production and antioxidant defenses. 17 As a consequence, the production of ROS and MDA, and the activity of SOD and GPx are usually used as biomarkers of oxidative stress.…”