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    Associations of IL-17 and IL-17 receptor polymorphisms with Behcet's disease in Denizli Province of Turkey
    (Springer, 2023) Arikan, Sanem; Oztuerk, Onur; Duygulu, Seniz; Atalay, Erol Omer; Atalay, Ayfer
    Although the etiopathogenesis of Behcet's disease is not known, studies conducted in different populations show that it is a multifactorial disease that is thought to develop as a result of the interaction of environmental and genetic factors. IL-17 is thought to induce the neutrophilic inflammation and the tissue damage mediated by immune response in patients. Polymorphisms in the gene region encoding IL-17 and IL-17R molecules may play a critical role in the pathogenesis of the disease and contribute to the elucidation of disease mechanism. We aimed to show the association of IL-17A, IL-17F, and IL-17RC polymorphisms and haplotypes in Behcet's disease patients and its clinical features. We genotyped IL-17A (rs4711998 (A/G), rs8193036 (C/T), rs2275913 (A/G), rs3819025 (A/G), rs8193038 (A/G), rs3804513 (A/T), rs1974226 (C/T), rs3748067 (C/T)); IL-17F (rs763780 (T/C), rs2397084 (T/C)); and IL-17R (IL-17RC) (rs708567 (C/T)) polymorphisms in 88 patients with Behcet's disease and 133 healthy controls using PCR-RFLP-based approach. The results of our study showed that polymorphisms of IL-17A, rs8193036 (C/T), rs3819025 (G/A), rs3804513 (A/T), IL-17F rs2397084 (T/C), and IL-17RC rs708567 (C/T) are associated with the susceptibility to the BD. When the haplotype distributions of all loci of IL-17Aand IL-17A/IL-17F together were examined and in contrast to the data obtained from the controls, the GTGGAACC (27.84%) and GTGGAACCTT (25.57%) have the highest frequencies. In conclusion, the allele and genotype frequency differences of the IL-17A, IL-17F, and IL-17R and haplotype frequencies between Behcet's disease and controls indicate that the genetic structure of Behcet's disease may be different.
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    Comparative analysis of hemoglobin S and normal populations based on ?-Globin Like Gene Cluster Haplotype Variation in Denizli, Turkey; Historical- Geographical perspectives and mutation age estimation
    (Inonu University School of Medicine Department of Biophysics, Malatya, 2017) Ozturk, Onur; Arikan, Sanem; Atalay, Ayfer; Atalay, Erol Omer
    Öz: Aim: Our study aimed to understand the genetic origin of Hb S based on comparative analysis with normal population haplotype data in the Denizli province of Turkey. Material and Methods: We performed data obtained from previously published articles. We studied DNA samples from 12 unrelated patients with heterozygous abnormal hemoglobin S (Hb S) and 59 unrelated healthy subjects from published articles. The association of population genetic parameters such as haplotypes, diversity, differentiation, HWE and demographic analysis for two populations were performed by latest version of the Arlequin software (ver. 3.5). Results: Our results show that normal and Hb S populations have different genetic parameters based on haplotype diversity through the history. The obtained results are highly associated with frequency haplotype [+ ---+ + +] (20.8%) in the Hb S population and the Mediterranean haplotype I [+ ----+ +] (14.4%) in the Normal population. According to historical population growth and mutation age parameter of ? values for normal and Hb S populations dated approximately 42,000 to 26,000 ybp, respectively. Conclusions: Historically, two populations exhibit different genetic parameters and unimodal growth distribution. Our results are consistent with the Hb S mutation which occured in this region about 26,000 years ago.
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    Comparative analysis of hemoglobin S and normal populations based on β-Globin Like Gene Cluster Haplotype Variation in Denizli, Turkey; Historical-Geographical perspectives and mutation age estimation )
    (2017) Ozturk, Onur; Arikan, Sanem; Atalay, Ayfer; Atalay, Erol Omer
    Aim: Our study aimed to understand the genetic origin of Hb S based on comparative analysis with normal population haplotype data in the Denizli province of Turkey. Material and Methods: We performed data obtained from previously published articles. We studied DNA samples from 12 unrelated patients with heterozygous abnormal hemoglobin S (Hb S) and 59 unrelated healthy subjects from published articles. The association of population genetic parameters such as haplotypes, diversity, differentiation, HWE and demographic analysis for two populations were performed by latest version of the Arlequin software (ver. 3.5). Results: Our results show that normal and Hb S populations have different genetic parameters based on haplotype diversity through the history. The obtained results are highly associated with frequency haplotype [+ ---+ + +] (20.8%) in the Hb S population and the Mediterranean haplotype I [+ ----+ +] (14.4%) in the Normal population. According to historical population growth and mutation age parameter of τ values for normal and Hb S populations dated approximately 42,000 to 26,000 ybp, respectively. Conclusions: Historically, two populations exhibit different genetic parameters and unimodal growth distribution. Our results are consistent with the Hb S mutation which occured in this region about 26,000 years ago
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    The IL-8 Gene Polymorphisms in Behcet's Disease Observed in Denizli Province of Turkey
    (Taylor & Francis Inc, 2016) Atalay, Ayfer; Arikan, Sanem; Ozturk, Onur; Oncu, Mustafa; Tasli, Mehmet Levent; Duygulu, Seniz; Atalay, Erol Omer
    Behcet's disease is a multisystemic inflammatory disorder as a triad of symptoms including recurrent oral and genital aphthous ulceration and uveitis with unknown pathogenesis. IL-8, a proinflammatory cytokine, has been found increased in the active stage of BD. DNA samples were obtained from 88 patients with BD and 112 healthy control subjects in Denizli province of Turkey. All genotyping experiments of SNPs in IL-8 gene were performed using polymerase chain reaction-restriction fragment polymorphism. We found that IL-8 -845 T > C and -738 T > A sites are non-polymorphic. There were no differences in the polymorphisms of IL-8 + 396 G/T, + 781 C/T, and + 1633 C/T sites except IL-8 -251 T > A in between patients and healthy controls. Analysis of IL-8 polymorphisms indicates that the distribution of frequencies seems to be associated with -251 T > A and gender, -251 T > A and erythema nodosum, -251 T > A and ocular involvement, + 781 C > T and erythema nodosum, + 396 G > T and pathergy positivity, and + 1633 C > T and papulopustular lesion. We demonstrated that the frequencies of IL-8 haplotypes were significantly different with BD patients than control group. We found that the distribution of IL-8 haplotypes was significantly different with genital ulcers, ocular involvement, positive pathergy test, erythema nodosum, papulopustular lesions, and arthritis with BD patients than healthy control individuals. Our study suggests that IL-8 gene polymorphisms may affect susceptibility to BD and increase the risk of developing disease. In order to confirm and assess the association of IL-8 and other cytokine gene polymorphisms in the pathophysiology of BD, large cohort studies are needed.