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    Association of single nucleotide polymorphisms in CXCR1, CXCR2 and CXCL5 with Behçet disease: a study in the Denizli province of Turkey
    (Wiley, 2021) Arıkan, Süleyman; Atalay, Ayfer; Öztürk, Onur; Duygulu, Şeniz; Atalay, Erol Ömer
    Background: Behçet disease (BD) is associated with the immune system, especially neutrophilic activity. The CXCR1, CXCR2 and CXCL5 genes mediate the activation and migration of neutrophils. Aim: To investigate CXCR1, CXCR2 and CXCL5 single nucleotide polymorphisms (SNPs) and examine their association with BD. Methods: We studied polymorphic sites in CXCR1 (four sites: rs16858811, rs9282752, rs16858809 and rs16858808), CXCR2 (three sites: rs2230054, rs1126579 and rs1126580) and CXCL5 (one site: rs352046) in 87 patients with BD and 111 healthy controls (HCs), using a PCR restriction-fragment length polymorphism-based approach for genotyping. Results: We found that the CXCR2 rs2230054 TT genotype and the CXCL5 rs352046 polymorphism might be possible genetic factors responsible for BD. We did not find any association between the development of BD and any of the four CXCR1 polymorphisms or the other two CXCR2 SNPs. In addition, our haplotype analysis results indicated that the haplotypes of the CXCR2 and CXCR1–CXCR2 polymorphic loci were different between the BD and HC groups. Conclusion: Our study suggests that polymorphisms of CXCR1, CXCR2 and CXCL5 may affect susceptibility to BD and increase the risk of developing the disease. These loci need to be studied in larger groups of patients from different geographical areas around the world in order to clarify the genetic background for BD pathogenesis. © 2021 British Association of Dermatologists
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    DNA profiling for forensic identification in Bulgarian Turks
    (İnönü Üniversitesi, 2021) Canpolat, Elif; Yükseloğlu, Emel Hülya; Çavuş Yonar, Fatma; Rayimoğlu, Gülten; Pasin, Özge; Göksel, Gamze; Dirican, Ahmet; Öztürk, Onur
    Forensic statistical parameters based on allelic frequencies of commonly used STRs (Short Tandem Repeats) were estimated for the Bulgarian Turks. The 6-dye Global- Filer™ PCR amplification kit incorporates 21 autosomal STRs, providing reliable DNA typing results with enhanced the power of discrimination. Here, we analyzed the GlobalFiler™ STR loci in 150 unrelated individuals from Bulgaria Turks who was born in Bulgaria, lived there and then have settled in Turkey. A total of 329 alleles were observed ranging between 5 and 37 repeat units, and SE33 showed the greatest power of discrimination (40 alleles) in Bulgaria Turks population. Blood and intraoral swab samples were collected from 150 Bulgarian Turks whose consent was obtained beforehand. DNA isolation was performed by using QIamp DNA Mini Isolation Kit. After quantification of the obtained DNA, the next step, PCR, was carried out using the GlobalFiler ™ STR kit. The DNA amplified after PCR was analyzed for profiling by running on ABI 3130 Genetic Analyzer. Allele frequencies and forensic statistical calculations were performed with Arlequin v 3.5.2.2 program. Allele frequencies were compared with Spain, Europe, Middle East, Africa, America, Central Asia, Japan, and Turkish populations. When the loci were examined in general, it was observed that the Turkish population had the closest frequency value to the group we studied, and the African and Central Asian populations had the farthest frequency value. The present study provides precise reference database for forensic applications and population genetic studies.
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    Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis
    (2022) Akbulut, Ekrem; Yıldırım, Tülay; Öztürk, Onur
    Objectives: Endoplasmic reticulum aminopeptidase-1 (ERAP1) polymorphic changes cause autoimmunity. To understand the contribution of ERAP1 to the occurrence of rheumatoid arthritis (RA) disease, we investigated the relationship between ERAP1 and RA. Methods: This study was conducted with 201 patients and 171 healthy controls. The rs26653, rs27044, rs27582, rs28096, and rs30187 polymorphic regions of ERAP1 were investigated. The comparison was done with Arlequin software and logistic regression. Haplotypes were analyzed with Phylogenetic Network software. ERAP1 was modeled using Promod3. Topological changes in ERAP1were analyzed with TM-Score. Results: The results showed that rs26653G>C (p=0.002, OR=2.001, 95%CI=1.276–3.137), rs27044C>G (p=0.037, OR=1.583, 95%CI=1.028–2.440), rs27582G>A (p<0.05, OR=0.348, 95%CI=0.194–0.622) and rs30187C>T (p=0.006, OR=1.849, 95%CI=1.191–2.870) polymorphisms are associated with RA disease risk. The relationship between rs28096 polymorphism and RA disease risk could not be determined (p=0.509). The risk haplotype for rheumatoid arthritis was determined as [CGAAT]. It was determined that polymorphisms of ERAP1 cause changes in the entry pocket of substrate and ligand. Conclusions: We report a haplotype [CGAAT] that is associated with RA risk from Turkey that has not been described before. These data will make important contributions to elucidating the molecular mechanism of RA.