Genetic polymorphisms of paraoxonase1 192 and glutathione peroxidase1 197 enzymes in familial Mediterranean fever

Abstract

ABSTRACT. Familial Mediterranean fever (FMF) is an autosomal recessive disorder and is the most frequent of the periodic febrile inflammatory syndromes. The pathogenesis of the disease is not completely understood, even though the FMF gene has been identified. Oxidative stress and inflammation may play a role in the pathogenesis of FMF. We investigated gene polymorphisms of the antioxidative enzymes, glutathione peroxidase (GPX) and paraoxonase (PON) in FMF patients, and possible associations with FMF pathogenesis. Sixty FMF patients during an attack-free period and 51 healthy children as the control group were included in our study. PON1 Q/R192 and GPX1 Pro197Leu gene polymorphisms were assayed. Blood urea nitrogen, creatinine and serum lipid profile were also measured. PON1 Q/R192 genotype distribution was 52% QQ, 46% QR and 2% RR in the FMF group and 45% QQ, 45% QR and 10% RR in the control group (P > Familial Mediterranean fever 0.05). GPX1 Pro197Leu genotype distribution was 28% PP, 57% PL, 15% LL in the FMF group and 18% PP, 53% PL, 29% LL in the control group (P > 0.05). Blood urea nitrogen, serum creatinine, lipid levels, and the distribution of PON1 Q/R192 and GPX1 Pro197Leu genotypes were similar in the two groups. We conclude that the PON1 Q/R192 and GPX1 Pro197Leu gene polymorphisms are not important risk factors in the development of FMF. However, larger studies are warranted to validate these conclusions.

Evaluation of Effect CAT -262C/T, SOD + 35A/C, GPx1 Pro197Leu Polymorphisms in Patients with IBD in the Polish Population

“…Gene polymorphisms GPx1 Pro198Leu and Pro197-Leu significantly increased risk of cardiovascular disease in the population of East Asia (6). In addition Pro197Leu GPx1 were significant risk factors in the development of familial Mediterranean fever (FMF) (7). Catalase is one of the most important endogenous antioxidants present in high levels in liver, kidney and erythrocytes (3).…”

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

“…In our study the polymorphism genotype and allele frequencies in the FMF and control group were found to be statistically irrelevant. Also Oktem et al said that there is no significant relationship between FMF disease and GPx1 polymorphism (27). Because there are only few studies about the relationship between FMF and GPx1 polymorphism we need further studies to investigate them.…”

The evaluation of two genetic polymorphisms of paraoxonase 1 in patients with pulmonary embolism

“…In the literature, most of the studies about PON 1 polymorphisms are interested in CAD . Also, there are studies on stroke, migraine, dementia, and familiar Mediterranean fever etc …”

“…PON 1, a 45‐kDa glycoprotein, is synthesized in the liver and transfers to tissues via high‐density lipoproteins (HDL) . There are two genetic polymorphisms of PON 1 as glutamine or arginine at position 192 (Q/R192) and methionine or leucine at position 55 (L55M) …”