Objectives: This study aims to investigate the genetic association between single nucleotide mutation in mitochondrial manganese superoxide dismutase and a Behçet's disease (BD) population by using molecular techniques. Patients and methods: Ninety-three BD patients (45 males, 48 females; mean age 33.15±8.99 years; range 17 to 65 years) and 125 controls (58 males, 67 females; mean age 28.33±7.31 years; range 18 to 62 years) were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The genotypic distributions in BD patients and controls were consistent with the Hardy-Weinberg equilibrium. Results: Significant differences were observed between BD patients and controls in terms of genotypic distribution. Frequencies of alanine (Ala)/Ala, Ala/valine (Val), and Val/Val were 14.0% (n=13), 45.2% (n=42), and 40.9% (n=38) in BD patients and 21.6% (n=27), 53.6% (n=67), and 24.8% (n=31) in controls, respectively (p=0.033).
Conclusion:The Val/Val genotype of the manganese superoxide dismutase gene is associated with the physiopathology of BD in a group of Turkish patients.Keywords: Behçet's disease; manganese superoxide dismutase; polymerase chain reaction-restriction fragment length polymorphism; polymorphism.Behçet's disease (BD) is a chronic, multi-systemic, relapsing, and inflammatory disorder characterized by ocular manifestations, in particular. 1 It is also characterized by uveitis, recurrent oral ulceration, genital ulceration, and skin lesions. BD exists worldwide, but it is relatively more widespread in Middle Eastern and East Asian countries including Japan. 2 The effect of autoimmune response and genetic factors on etiology of BD was well established. 2 However, the etiologic mechanisms underlying this vascular disease have not been well understood yet. Reactive oxygen species (ROS) have been hypothesized to play an important role in BD. Evidence from several studies suggests that neutrophils from patients with BD generate high levels of ROS and then this stress causes endothelial cell lysis in vitro. [3][4][5] On the other hand, different data reported in the literature show a variation for the activities of antioxidant enzymes in BD: erythrocyte superoxide dismutase (SOD) activity was found to be increased, 4,6,7 unchanged, 8 and decreased, 5,9