Yazar "Bildirici, Aslihan Esra" seçeneğine göre listele
Listeleniyor 1 - 7 / 7
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe Association between Multiple Sclerosis and FOXP3 Gene promoter region mutations(2018) Çekin, Nilgün; Pınarbaşı, Ergün; Bildirici, Aslihan Esra; Akın, Şeyda; Yıldız, Özlem KayımRegulatory T-Cells (Treg Cells), as one of the immune system components, have been highly effective in theautoimmune diseases prevention, particularly multiple sclerosis (MS). MS is a chronic inflammatory and autoimmunedisease characterized by immune infiltration and inflammation in the central nervous system. Regulatory T (Treg) cellsplay an important role in the control of autoimmunity. Expression and action of the transcription factor FOXP3 controlsthe development and function of Treg cell. The aim of this study was to investigate the association between MS andFOXP3 gene promoter region polymorphisms rs2232365 (-924A/G) and rs3761548 (-3279A/C) in a Turkishpopulation. In this case-control study we investigated these polymorphisms in 80 MS patients and 80 healthy controlsusing PCR-RFLP methods.Results of our study showed that while there is significant correlation between MS and FOXP3 rs3761548polymorphism (p=0.031), FOXP3 rs2232365 polymorphism, has not been found to be associated with the disease(p=0.31). As FOXP3 gene is one of the most important genes in the regulation of the immune cells, it may beconcluded that the expression of this gene is important in MS patients. As this SNP is located in the promoter region ofthe gene, it may affect the expression level of FOXP3 protein.Öğe FOXP3 rs3761548 polymorphism is associated with knee osteoarthritis in a Turkish population(WILEY, 2018) Cekin, Nilgun; Pinarbasi, Ergun; Bildirici, Aslihan Esra; Donmez, Gonca; Oztemur, Zekeriya; Bulut, Okay; Arslan, SerdalAim: Functional polymorphisms located in FOXP3 intron 1 was recently found to be associated with rheumatoid arthritis (RA). Although RA is an autoimmune disease, there is supporting evidence that activated maladaptive responses including pro-inflammatory pathways play roles in osteoarthritis (OA), similar to RA. The aim of this study was to explore the relationship between rs2232365 (-924A/G) and rs3761548 (-3279A/C) polymorphisms as well as possible changes in the 600 bp promoter region of FOXP3 and knee OA. Methods: Patients with primary knee OA (n = 300) and healthy individuals (n = 300) were examined for rs3761548 and rs2232365 FOXP3 gene polymorphisms by the polymerase chain reaction-restriction fragment-length polymorphism method. The 600 bp promoter region (between -500 and +100) of the gene was also sequenced with direct sequencing in 50 knee OA patients and 50 healthy individuals. Results: There were no sequence variants in the promoter region tested both in OA patients and healthy controls. The SNP rs2232365 showed no association with OA susceptibility and severity and the results of other genetic models were also nonsignificant. On the other hand, rs3761548 AC (P = 0.003), AA + CC (P = 0.0014) as well as AC + AA (P = 0.40) genotypes showed association with Grade 4 knee OA patients. Conclusion: Our findings indicated that the association between FOXP3 rs2232365 polymorphism and knee OA tended to yield negative results but the FOXP3 rs3761548 C allele was associated with elevated risk of OA in Grade 4 knee OA patients in a Turkish population.Öğe MicroRNA-221/222 expression in atherosclerotic coronary artery plaque versus internal mammarian artery and in peripheral blood samples(TAYLOR & FRANCIS LTD, 2018) Bildirici, Aslihan Esra; Arslan, Serdal; Sahin, Nil Ozbilum; Berkan, Ocal; Beton, Osman; Yilmaz, Mehmet BirhanBackground: Atherosclerosis is a disease of the arterial wall with predilection to some sites on others. MicroRNAs (miRNAs) are a class of the non-coding RNAs regulating the target gene expression at post-transcriptional level. Different miRNAs were found at distinct stages of plaque development and expression of miRNAs' might play an important role in the local behaviour of atherosclerotic plaques. Objective: We aimed to investigate and compare mirR-221/222 expression levels in tissues and in circulation in patients with and without overt atherosclerosis. Methods: RNA was isolated from 40 tissues as 20 tissue samples from coronary artery atherosclerotic plaques (CAAP) and internal mammary arteries (IMA), obtained from same individual) and 80 blood (44 patients with atherosclerosis and 36 healthy subjects) samples. MiR-221/222 expression levels were measured using real time PCR. Results: Expression levels of miR-221 was significantly increased in CAAP compared with completely atherosclerosis-free IMA tissues with a 8.94 times fold-change (p = 0.015). The miR-221 expression in tissue samples was significantly different in patients with hypercholesterolemia (p = 0.010), hypertension (p = 0.018) and family history of CAD (p = 0.033) versus not. Expression of miR-222 was not statistically significant between the two tissue samples overall. Conclusions: MiR-221 may be a potential biomarker for local atherosclerotic behaviorÖğe Relationship between STOX1 gene variations and preeclampsia in Turkish population(Elsevier, 2023) Bildirici, Aslihan Esra; Akin, Seyda; Atron, Bydaa; Pinarbasi, Ergun; Cekin, Nilgun; Kucukyildiz, IremPreeclampsia (PE) is a common pregnancy disease that occurs in the second trimester of pregnancy and is characterized by high blood pressure and proteinuria. Recent studies have shown that the STOX1 gene, which is associated with the FOX multigene family and expressed in the early placenta, can directly affect the PE phenotype. STOX1 is a transcription factor that affects the high prevalence of human gestational disease by targeting genes in the pathways that affect cell proliferation and migration. In this study, the effects of STOX1 gene variations Y153H and -922 T > C polymorphisms, previously associated with PE by our team, were evaluated on each other and the disease phenotype. In the study, the results obtained from our previous polymorphism studies were used. As a result of statistical analysis, it was observed that STOX1 Y153H and -922 T > C variations were effective together in the development of early-onset Preeclampsia (EOPE). Our in-silico analysis revealed the deleterious impact of the mutation on the structure and function of the protein. Although PE is a disease that occurs with pregnancy and shows its effects mostly during this period, it has been stated that women and children with a history of PE are more prone to various disorders, especially cardiovascular disease in the following years. Therefore, understanding the pathogenesis of the disease is important for both prevention and treatment process. The variations on STOX1 gene appear to be important in terms of disease risk.Öğe STOX1 gene Y153H polymorphism is associated with early-onset preeclampsia in Turkish population(Elsevier, 2020) Pinarbasi, Ergun; Cekin, Nilgun; Bildirici, Aslihan Esra; Akin, Seyda; Yanik, AliPreeclampsia (PE) is a disease of pregnancy that causes of maternal and prenatal morbidity worldwide. Studies indicate that variations in STOX1 gene may be a direct risk factor to PE but controversial results regarding the relationship of Y153H variation in the second exon of STOX1 gene with PE have been ongoing since 2005. The aim of this study was to identify if there is any correlation between Y153H polymorphisms and PE in Turkish preeclampsia patients. We performed polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis in 500 pregnant women, of whom 373 pregnant women with early onset PE (EOPE) and 500 normal pregnant women. The relationship between STOX1 Y153H polymorphism and EOPE/LOPE was evaluated by statistical analysis. We found that STOX1 Y153H polymorphism is a risk factor for EOPE (p = 0.03). The odds ratio was 1,45 (CI 95% = 1,03-2,05). No relationship between STOX1 Y153H polymorphisms and LOPE (p = 0.13) was found. STOX1 gene Y153H polymorphism is associated with the risk of early onset of pre-eclampsia in a Turkish population. The results provide further evidence of the role of STOX1 in the pathophysiology of this disease.Öğe STOX1 promotor region-922 T > C polymorphism is associated with Early-Onset preeclampsia(Taylor & Francis Inc, 2022) Akin, Seyda; Pinarbasi, Ergun; Bildirici, Aslihan Esra; Cekin, NilgunPreeclampsia (PE), affecting 5-8% of pregnancies, is a common pregnancy disease that has harmful effects on mother and foetus. It has been found that the STOX1 (Storkhead Box 1), which is a transcription factor, carries variants associated with PE. Previous studies showed that, there was a strong relationship between PE and STOX1 variants. Therefore, we hypothesised that variants in the promoter region of the gene may be related to the onset of PE. The aim of this study is to investigate the contribution of STOX1 gene promoter region variants to PE. The blood samples taken from 118 PE patients and 96 healthy pregnant women were analysed by Sanger sequencing method. Sequence analysis results showed that, there is a-922 T > C polymorphism (rs884181) in the promoter region of the STOX1 gene. This polymorphism was found to be statistically significant in individuals with early onset PE (p = 0.02) and in PE (p = 0.014) compared to the control group.IMPACT STATEMENT What is already known on this subject? As a result of whole-exon studies on the STOX1 gene, polymorphisms were found to disrupt the structure/expression/function of the gene and strengthen its relationship with PE and HELLP syndrome. A previous study by our team found an association between Y153H, the most common polymorphism of STOX1, and early onset PE. What do the results of this study add? In our study, it was aimed to investigate the effect of genetic modifications in STOX1 gene promoter region on PE through the maternal genotype. Because any change in the promoter region affects the expression level of the gene. Also, for the first time, sequence analysis of the promoter region of STOX1 is investigated in PE. The variations in STOX1 appear to be important in PE especially in Early Onset PE. What are the implications of these findings for clinical practice and/or further research? Although PE is a disease that occurs with pregnancy and shows its effects most during this period, women and children with a history of PE are more prone to various disorders, especially cardiovascular diseases in the following years. Therefore, understanding the pathogenesis of the disease is important for both prevention and treatment process. Variations on STOX1 appear to be important in terms of disease risk.Öğe The role of two common FOXP3 gene promoter polymorphisms in preeclampsia in a Turkish population: a case-control study(Taylor & Francis Inc, 2020) Cekin, Nilgun; Pinarbasi, Ergun; Bildirici, Aslihan Esra; Hatice; Yanik, Ali; Sonmez, GamzePreeclampsia (PE), which occurs in approximately 5% of pregnancies worldwide and constitutes clinically serious complications in 2-3%, is one of the leading causes of maternal and prenatal morbidity and mortality. Recent studies report that regulatory T (Treg) cells, which act as immunosuppressant, are associated with PE. It is clearly defined that FOXP3/Scurfin (Forkhead Box P3) is involved in the development and function of Tregs. However, there are different conclusions regarding the relationship between PE and FOXP3 gene polymorphisms for different populations. For this reason, in this study we investigate the association between FOXP3 gene promoter region polymorphisms and PE in a Turkish population 500 PE patients and 500 healthy pregnant women. Blood samples taken from pregnant women were studied by PCR-RFLP method. As a result, rs2232365 polymorphism was significantly associated with disease (p < .0001) while no significant association was found between rs3761548 polymorphism and the disease (p = .17). Based on these results, it is though that FOXP3 rs2232365 polymorphism may be predisposed to PE development in terms of Turkish population. However, further and functional studies are needed in terms of other polymorphisms and mutations.IMPACT STATEMENT What is already known on this subject? A number of recent publications suggest that Tregs may play a role in the pathogenesis of PE. It is known that a stable and high FOXP3 expression is required to maintain the suppressive T cell function of Tregs. Down regulation of FOXP3 in PE has been reported in many previous studies, but the mechanism is still uncertain. What do the results of this study add? Our study has examined two FOXP3 promoter region polymorphisms in terms of Turkish population for the first time. Rs2232365 polymorphism associated with the disease in heterozygous genotype.
