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Öğe Association Between The Presence Of Amyloidosis In Patients With Ankylosing Spondylitis and Polymorphisms In Type 1/Type 2 Serum Amyloid A Protein Genes, Mediterranean Fever Genes(Wiley-Blackwell, 2013) Cetin, Gozde Yildirim; Ganiyusufoglu, Eda; Solmaz, Dilek; Cagatay, Yonca; Oner, Sibel Yilmaz; Erer, Burak; Sagliker, Hasan Sabit[Abstract Not Available]Öğe Association Between Thr21Met and Ser89Asn Polymorphisms of the Urotensin II Gene and Systemic Sclerosis(J Rheumatol Publ Co, 2012) Pehlivan, Yavuz; Gogebakan, Bulent; Oztuzcu, Serdar; Ozgen, Metin; Cetin, Gozde Yildirim; Bayraktar, Recep; Cengiz, BeyhanObjective. Systemic sclerosis (SSc) is an autoimmune chronic fibrotic disorder. Urotensin II (U-IT) is predominantly a vasoactive peptide with fibrotic and prothrombotic features. Like endothelin-1 (ET-1), U-II could play an important role in SSc pathogenesis. We evaluated the possible role of the U-II gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to SSc in a Turkish population. Methods. A total of 189 patients with SSc and 205 healthy controls were enrolled in our study. We analyzed the genotype and allele frequencies of the U-II (UTS2) gene polymorphisms Thr21Met and Ser89Asn in patients with SSc and in controls. Results. We found that the Thr21Met polymorphism of the UTS2 gene was markedly associated with the risk of developing SSc (p < 0.0001), but there was no relationship between the Ser89Asn polymorphism and SSc (p > 0.05). Two haplotypes (MS and TS) were markedly associated with SSc (p < 0.05). There were significant associations between the genotype and allele frequencies of UTS2 gene Thr21Met polymorphism and cases with diffuse or limited SSc, systemic or lung involvement, finger flexion deformity, pitting scars at the fingertips, positive anticentromere, or positive antitopoisomerase I antibody groups. Conclusion. Our study shows the association between Thr21Met, but not Ser89Asn, in the UTS2 gene and SSc. The results strongly suggest that this single-nucleotide polymorphism may be an important risk factor in the development of SSc, and a powerful indicator of severe skin and lung involvement in patients with SSc. (First Release Nov I 2011; J Rheumatol 2012;39:106-11; doi:10.3899/jrheum.110509)Öğe The IL-33 gene is related to increased susceptibility to systemic sclerosis(Springer Heidelberg, 2016) Koca, Suleyman Serdar; Pehlivan, Yavuz; Kara, Murat; Alibaz-Oner, Fatma; Oztuzcu, Serdar; Yilmaz, Neslihan; Cetin, Gozde YildirimSystemic sclerosis (SSc) is a chronic inflammatory disease characterized by widespread fibrosis of the skin and several visceral organs. The pro-fibrotic potential of interleukin (IL)-33 has been demonstrated by in both in vitro and in vivo settings; moreover, increased level of IL-33 has also been reported in patients with SSc. Therefore, the aim of the present study was to detect the potential association of IL-33 gene polymorphisms on the susceptibility of SSc. A total of 300 SSc patients and 280 healthy controls (HC) were enrolled in this multicentric preliminary candidate gene study. DNA samples were harvested using an appropriate commercial DNA isolation kit. Four single nucleotide polymorphisms (SNPs) of IL-33 gene (rs7044343, rs1157505, rs11792633 and rs1929992) were genotyped using the appropriate commercial primer/probe sets on real-time PCR. There was no significant difference in terms of the allelic distributions and minor allele frequencies of evaluated four IL-33 polymorphisms between the SSc and HC groups (P > 0.05 for all). Moreover, the genotypic distributions of rs1157505, rs11792633 and rs1929992 polymorphisms were not significantly different (P > 0.05 for all). However, CC genotype of rs7044343 SNP was significantly higher in the SSc group compared to the HC group (P = 0.013, OR 1.75, 95 % CI 1.12-2.72). This preliminary candidate gene study demonstrates that rs7044343 polymorphism of IL-33 gene is associated with the susceptibility to the SSc in Turkish population. It may be suggested that IL-33 gene may be a candidate gene to research in SSc.Öğe Investigation of the association between Rho/Rho-kinase gene polymorphisms and systemic sclerosis(Springer Heidelberg, 2016) Pehlivan, Yavuz; Yolbas, Servet; Cetin, Gozde Yildirim; Alibaz-Oner, Fatma; Cagatay, Yonca; Yilmaz, Neslihan; Oztuzcu, SerdarSystemic sclerosis (SSc) is a disease characterized by inflammation, vascular abnormalities and fibrosis. The role of Rho/Rho-kinase pathway was demonstrated in the pathogenesis of fibrosis, inflammation and vascular abnormalities. This study was aimed to investigate the relation between SSc and Rho/Rho-kinase gene polymorphisms. The study included 339 patients with SSc and 302 healthy subjects who were apparently healthy and at similar age and gender. Genotype distributions and allele frequencies were detected by using Chi-square test or Fisher's exact Chi-square test between groups, and the haplotype analysis was applied using online program (SHEsis). Significant association was found in a polymorphism in the ROCK1 gene (rs35996865), a polymorphism in ROCK2 gene (rs10178332), a polymorphism in RhoA gene (rs2177268) and two polymorphisms in RhoC gene (rs11102522 and rs11538960) with SSc disease (p < 0.0022). In this study, association between SSc disease and Rho/Rho-kinase gene polymorphisms was investigated for the first time; significant associations between ROCK1, ROCK2, RhoA and RhoC gene polymorphisms and SSc disease were demonstrated. The results strongly suggest that this SNP may be an important risk factor for development of SSc. However, further validation of these findings in an independent cohort is necessary.Öğe The rate and significance of type 1/type 2 serum amyloid A protein gene polymorphisms in patients with ankylosing spondylitis and amyloidosis(Taylor & Francis Ltd, 2015) Cetin, Gozde Yildirim; Ganiyusufoglu, Eda; Solmaz, Dilek; Cagatay, Yonca; Oner, Sibel Yilmaz; Erer, Burak; Sagliker, Hasan SabitA relationship between the presence of amyloidosis and SAA1 genotype has been shown in recent studies of (principally) familial Mediterranean fever patients. We found that the SAA1 rs12218 polymorphism was significantly more prevalent in ankylosing spondylitis patients with amyloidosis.
