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    Angiotensin-converting enzyme gene and endothelial nitric oxide synthase gene polymorphisms in Beh double dagger et's disease with or without ocular involvement
    (SPRINGER BASEL AG, 2009) Dursun, Ahmet; Durakbasi-Dursun, Hatice Gul; Dursun, Recep; Baris, Savas; Akduman, Levent
    The association of known ACE gene and eNOS gene polymorphisms with BD in a group of Turkish patients with or without ocular involvement has been investigated. The ACE and eNOS gene polymorphisms were investigated in 73 BD patients and 90 controls. The distrubition of "DD", "ID" and "II" genotypes of the ACE gene were 32 (43.8%), 29 (39.8%) and 12 (16.4%) for BD patients and 32 (35.5%), 35 (38.9%) and 23 (25.6%) for healthy controls. There was no significant difference between the groups (p = 0.140, OR 1.44, CI 0.90-2.30). When Beh double dagger et patients with ocular involvement were compared to the control group, statistical significance was found (p = 0.049, OR 2.18, CI 1.00-4.81). The "bb", "ba", and "aa" genotype frequencies of the eNOS gene were 48 (65.8%), 23 (31.5%), and 2 (2.7%) for patients with BD and 75 (83.3%), 15 (16.7%), and 0 (0%) for healthy controls, respectively. The significant difference found in allelic frequencies between the two groups (p = 0.011, OR 2.32, CI 1.11-4.87). When Beh double dagger et patients with ocular involvement were compared, sharper statistical significance was found (p = 0.001,OR 4.61,CI 1.85-11.52). The ACE gene polymorphism does not play a role in the pathogenesis of BD. The findings of the eNOS gene polymorphisms confirmed the significant association with BD and even more in patients with ocular involvement.
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    Genetic analysis of MEFV gene pyrin domain in patients with Behcet's disease
    (HINDAWI LTD, 2006) Dursun, Ahmet; Durakbasi-Dursun, Hatice Gul; Zamani, Ayse Gul; Gulbahar, Zerrin Gulin; Dursun, Recep; Yakicier, Cengiz
    Objectives. Behcet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was designed to determine if mutations in pyrin domain of MEFV gene are involved in BD. Methods. We analyzed the pyrin domain of MEFV gene in 54 Turkish patients with BD by PCR-analysis and direct sequencing. Results. Neither deletion or insertion mutations nor point mutations in pyrin domain were found in any patient. Conclusion. Although pyrin gene mutations have been reported in patients with BD, pyrin domain is not mutated. However, alterations in other regions of MEFV gene and interaction between pyrin domains are needed to be further investigated. Copyright (c) 2006 Ahmet Dursun et al.
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    The relation of PON1-L55M gene polymorphism and clinical manifestation of Behcet's disease
    (ACTA BIOCHIMICA POLONICA, 2014) Dursun, Ahmet; Çiçek, Salih; Keni, Fatih M.; Çelik, Sevim Karakaş; Sezer, Tuna; Altınyazar, Hilmi Cevdet
    Purpose: Behcet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Paraoxonase is believed to play an important role in protection of LDL and HDL particles from oxidation, in antioxidant effect against lipid peroxidation on cellular membranes, and in anti-inflammatory process. Lipid peroxidation and free oxygen radicals have been thought to play a role in pathogenesis of BD. The association of paraoxonase gene polymorphisms with Behcet's Disease in a group of Turkish patients with clinical manifestations and healthy controls has been investigated. Patients and Methods: Paraoxonase (PON-1-L55M) gene polymorphism was investigated in 50 Behcet patients and 50 healthy individuals with a PCR/RFLP method. Results: There were significant differences between patients and the control group in allele frequencies of the PON1 L55M polymorphism (p=0.04). Also, when patients were compared with the control group according to clinical manifestations, this statistical significance was getting sharper. Compared with the PON55 L allele, the M allele was associated with greater than 3.5 fold (OR 3.5, 95% CI 1.3-8.9) increased risk of ocular (OR 2.4, 95% CI 1.1-5.3), 2.4 fold joint and 3.1 fold (OR 3.1, 95% CI 1.1-8.4) central nervous system manifestations of BD. Conclusion The PON L55M gene polymorphism seemed to play a role in the pathogenesis of BD.