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    ACAN Gene VNTR Polymorphism and Intervertebral Disc Degeneration in a Turkish Population
    (2020) Öz, Tuba; Kaya, İsmail; Nursal, Ayşe Feyda; Aydın, Hasan Emre; Demir, Osman; Yiğit, Serbülent
    Aim: Intervertebral disc degeneration (IVDD) is caused by several genetic and environmental factors. Aggrecan is the major component of intervertebral disk matrix proteoglycan with multiple functional domains. The aim of this study was to investigate the possible association between ACAN (coding aggrecan) gene variable number tandem repeat (VNTR) polymorphism and susceptibility to IVDD. Methods: Two hundred and sixty subjects participated in this study. The disease group comprised 150 patients diagnosed with symptomatic IVDD. The control group consisted of 110 healthy subjects. The ACAN gene VNTR region was analyzed using the polymerase chain reaction (PCR) method. Results: The most common allele in the patient and the control group was 27 repeat allele (49% and 34.55%, respectively). Allele 26 was more frequent in males compared to females (p=0.030). Allele 21 and 23 were more common in ones living in rural areas (p=0.030) while allele 27 was the most frequent in ones living in urban areas (p<0.001). Allele 26, allele 29 and allele 30 were less frequent in the patient group than in the control group (p=0.013, p=0.001 and p=0.001, respectively) while allele 27 was more common in the patient group compared to the control group (p=0.001). Conclusion: Our results showed that ACAN VNTR allele 27 had a positive relationship with IVDD susceptibility in a Turkish population.
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    Öğe
    Investigation of the role of interleukin-1 receptor antagonist VNTR variant on the Behçet’s disease
    (2018) Dursun, Gul; Nursal, Ayşe Feyda; Demir, Helin Deniz; Karakuş, Nevin; Demir, Osman; Yiğit, Serbülent
    Objective: Behçet’s disease (BD), a chronic multisystem inflammatory disorder, is mainly characterized by relapsing periods of a wide range of clinical symptoms. Several cytokine genes may play important roles in the pathogenesis of BD. Therefore, interleukin-1 receptor antagonist (IL-1Ra) gene 86bp variable number tandem repeat (VNTR) variant was investigated in patients with BD in a Turkish population. Methods: One hundred nine patients (60 females, 49 males; the mean age±standard deviation [SD] was 36.56±9.571 years) with BD and one hundred healthy individuals (54 females, 46 males; the mean age±SD was 36.64±2.294 years) were examined in the study. For genotyping, polymerase chain re- action-restriction fragment length polymorphism analysis was employed. Data were analyzed using Statistical Package for Social Sciences (SPSS) 22.0 (IBM Corp.; Armonk, NY, USA) (p<0.05) Results: The genotype distribution and allele frequencies of the IL-1Ra VNTR variant did not differ significantly between the patients and the controls (p>0.05). The frequency of the a1/a1, a1/a2 geno- types and a1, a2 alleles were the most common both in patients and healthy controls (p=0.37, p=0.26, and p=0.53, respectively). Also, no statistically significant difference was found between the IL-1Ra VNTR variant genotypes and clinical characteristics (p>0.05). Conclusion: The results of this study do not support an association between the IL-1Ra VNTR variant and the risk of BD in a Turkish population. However, further studies of this variant with larger sample sizes and different ethnicities are required for confirmation.