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Aim:Activation-induced cytidine deaminase (AID) has been associated with tumor initiation and development because of its ability to generate DNA damage and somatic mutations that cause genomic instability. This study aimed to investigate the relationship between AID expression levels and the risk of developing BCR/ABL1-negative myeloproliferative neoplasms (MPNs) by comparing the AID expression levels of the patients and controls.Methods:This case-control study was conducted on 117 cases (64 essential thrombocythemia, 23 primary myelofibrosis, and 30 polycythemia vera) with MPNs and 69 healthy controls. The JAK2 V617F somatic mutation analysis was performed using a real-time polymerase chain reaction (RT-PCR). The relative expression levels of AID in the patient and the control groups were analyzed using quantitative RT-PCR and the 2-ΔΔCT method.Results:AID expression levels were significantly higher in the patient group compared to the control group (p<0.001). AID expression levels were higher in patients with the JAK2 V617F mutation compared to patients without the mutation, but the difference was not statistically significant.Conclusion:The results of our study suggest that although overexpression of AID does not seem to support the JAK2 driver gene, it may contribute to the development of MPNs through other mechanisms.

Psoriasis is an inflammatory skin disease characterized by keratinocyte hyperproliferation with effective environmental and genetic factors. Recent studies showing that the IL-23/IL-17 axis plays a central role in the pathogenesis of the disease. Experimental and clinical studies suggest that IL-17A , an important regulatory effector cytokine in this pathway and triggers changes mainly in affected tissues. Based on the central role of IL-17A in the pathogenesis of psoriasis, we thought that variations in this gene could affect the susceptibility and severity of this disease. Therefore, in this study, we aimed to analyze whether IL-17A rs10484879 variant has an effect on psoriasis pathogenesis in Turkish population. In this case–control study, the study group consisting of 564 patient (188 psoriasis patients (66 males/122 females)/376 controls (132 males/244 females) and they were genotyped in terms of IL-17A (rs10484879) polymorphism with TaqMan 5 'Allelic Discrimination Test. IL-17A serum levels were measured with the Enzyme-linked immunosorbent assay (ELISA). The genotype distributions of the IL-17A rs10484879 polymorphism between the patient and control groups were statistically different in the TT genotype and it was observed more commonly in the patient group compared to the controls ( p  < 0.001). Similarly, the T allele was observed with a higher prevalence in the patient group compared to the controls ( p  = 0.007). IL-17A serum levels were associated with increased serum concentration, respectively, TT > GT > GG in all study groups ( p  < 0.05). We would like to report that IL-17A rs10484879 TT genotype and T allele are associated with increased risk of psoriasis in the Turkish population.

Objective: Rheumatic heart disease (RHD) is an inflammatory disease that develops after streptococcal infections. The pleiotropic effect of IL-10 plays a role in the regulation of immune system responses. However, impaired IL-10 expression or signaling can impair antigen clearance during acute bacterial infections, creating a favorable environment for persistent inflammation. More than 30 single nucleotide polymorphisms (SNPs) in the promoter region of the gene encoding IL-10, which has a highly polymorphic structure, and the relationship of these SNPs with increased and decreased cytokine expression have been reported. Therefore, it is assumed that these polymorphisms may be predictors of an individual’s susceptibility to RHD. In this study, we aimed to evaluate the relationship between sensitivity of IL-10 variants (-1082, -819, -592) and severity of RHD in the Turkish population. Methods: In this case-control study, IL-10 promoter gene variants of the study group consisting of 390 women were examined using the TaqMan 5′ allelic discrimination test method. Results: There was no statistically significant difference between study groups in terms of IL-10 (–1082, –819, –592) genotypes. In patients with mild and severe valve damage, there was no statistically significant difference in terms of IL-10 (-1082, -819, -592) genotype distributions and allele frequencies (p>0.05). Conclusion: Our findings suggest that IL-10 (-1082, -819, -592) variants are not associated with the pathogenesis and severity of the disease in women in the Turkish population. In the Turkish population, IL-10 (-1082, -819, -592) variants cannot be recommended as a suitable genetic marker for RHD.

Introduction: Coronary heart disease (CHD) due to atherosclerosis is a multifactorial disease with high morbidity caused by interaction of various genetic and environmental factors. Hyperlipidemia which is accepted as the most important risk factor for atherosclerosis; characterized by high concentration of low density lipoprotein (LDL) -cholesterol (LDL-C) and low concentration of high density lipoprotein (HDL)- cholesterol (HDL-C). Epidemiological studies prove the inverse relationship between HDL-C levels and CHD. Apolipoprotein A1, the major protein of HDL, is secreted as proprotein and then cleaved by C-terminal procollagen endoproteinase/bone morphogenetic protein-1 (BMP-1). Reporting of the role of BMP receptors in lipoprotein metabolism indicates that variations in these genes may be important. However, there are no studies in the literature about the variations in type I receptors for activin receptor-like kinase (ALK) 1 and ALK2 and its effects on lipid profile. In this study, it was aimed to determine the role of the gene variants of ALK1 (Q292P ve S333G) and ALK2 (R206H) receptors in the development of CHD and their effects on serum lipoprotein levels. Methods: This study was carried out using a sample of 131 patients with CHD and 51 controls. ALK1 and ALK2 genotypes were determined by real-time polymerase chain reaction and technique. Results: Genotype distributions of ALK1 and ALK2 were the same between the study groups (p>0.05). Mutations in ALK1 and ALK2 were observed only in the patient group. ALK1 Q292P mutation and ALK2 R206H mutation exerted positive effects on the serum lipid profile. Conclusion: The findings of our study suggested that mutations of ALK1 and ALK2 genes may contribute to antiatherogenic lipid profile and may protect against the development of CHD.

Introduction: Philadelphia-negative myeloproliferative neoplasm (MPN) is a hematopoietic stem cell disorder consisting of essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) associated with myeloid cell proliferation without differentiation and maturation defects. It is characterized by hypercellular bone marrow and an increase in one or more cell lines in the peripheral blood. In the hematopoietic stem cell, janus kinase 2 (JAK2), which is a cytoplasmic tyrosine kinase, remains constantly phosphorylated (active) as a result of the V617F somatic mutation in the pseudokinase region. Even if the phosphorylated JAK2 does not receive a stimulus, it performs signal transmission and causes continuous gene expression. This explains the excessive increase in one or more blood cell lines. NAD(P)H quinone oxidoreductase-1 (NQO1) is a phase 1 enzyme that prevents the formation of reactive and toxic semiquinone metabolites by reducing two electrons in one step. The C609T polymorphism of the NQO1 gene leads to loss of enzyme activity due to the enzyme becoming unstable. While enzyme activity is not observed in individuals with both mutant alleles, moderate activity is observed in heterozygous individuals. Studies have reported a relationship between NQO1 C609T polymorphism and various cancer types. In our study, it was aimed to investigate the possible relationship between NQO1 C609T polymorphism and MPN development. Methods: Our study group consisted of 119 MPN patients and 122 healthy controls. DNA isolation was performed from peripheral blood taken from the study groups. The JAK2 V617F mutation was detected using Real-time polymerase chain reaction (PCR), and NQO1 C609T gene polymorphism was detected using the PCR- restriction fragment length polymorphism method. SPSS 21.0 was used for statistical analysis. Results: No statistically significant difference was found between the patient and control groups in terms of NQO1 genotype distributions (p>0.05). When cases with ET, PMF, and PV were compared in terms of frequency of JAK2 V617F mutation, the rate in PV was higher (respectively; 62.5%, 61.5%, 78.6%). There was no relationship between JAK2 mutation positivity and NQO1*2 polymorphism. Conclusion: According to the results obtained from our study, there is no relationship between NQO1*2 polymorphism and MPN. Variants of the NQO1 enzyme, which is essential in detoxification and activation of procarcinogens, did not increase the formation of the JAK2 V617F mutation, which is common in MPN patients. It is thought that the results should be supported by increasing the number of patient and control groups.

INTRODUCTION: Rheumatic heart disease (RHD) results from rheumatic fever (RA) caused by streptococcal throat infection. 3-6% of patients with rheumatic fever turn into RHD. Recent studies have shown that Th17 cells, a newly identified new effector T cell line, play a role in the pathogenesis of RHD. Host auto-reactivity mediated by cellular and humoral immune responses is known to play a role in RHD development, and interleukin (IL)-17 appears to be the leading actors in this process. Despite this central role in RHD pathogenesis, the number of studies on IL-17 variants is very limited. Moreover, there is no data related to this issue in Turkish society. Therefore, in this study, we aimed to investigate the relationship between IL-17A rs2275913 and IL-17F rs763780 polymorphisms in the pathogenesis of RHD. METHODS: In this case-control study, the study group consisting of 390 women (170RHD/220 control) IL-17A rs2275913, IL-17F rs763780 gene variants were examined using the TaqMan 5 'Allelic Discrimination Test method. RESULTS: The IL-17A rs2275913 genotype distributions among study groups were statistically significant (p=0.010). In addition, the IL-17A rs2275913 AA genotype was found in both single valve lesions (p=0.021) and combined valve lesions (p=0.038). It was statistically higher compared to the group. IL-17F rs763780 variants showed no association with RHD pathogenesis. DISCUSSION AND CONCLUSION: Based on our findings, we would like to report that the IL-17A rs2275913 variant is effective in both the pathogenesis and severity of RHD, and that we found a serious correlation in defining high sensitivity. We think that IL-17A rs2275913 variants can be recommended as a suitable biomarker for the identification of susceptible individuals in the Turkish population.

Aim: Coronary artery disease (CAD) due to atherosclerosis is a multifactorial disease resulting from the interaction of numerous genetic and environmental factors. In developed countries, it is among the diseases with highest rates of mortality and morbidity. Proprotein convertase subtilisin/kexin 9 (PCSK9), plays an important role for cholesterol homoeostasis via inducing post-transcriptional degradation of Low-density lipoprotein-Receptor (LDLR).Since PCSK9’s first discovery in 2003, studies focusing on PCSK9 continue without slowing down and now PCSK9 is a candidate as a new therapeutic target in atherosclerosis. However, little is known about the genetic variants of PCSK9 and its influence on Low Density Lipoprotein – cholesterol (LDL-C) in Turkish population. Mutations in the PCSK9 gene have been associated with both hypocholesterolemia and hypercholesterolemia through ‘loss-of-function’ and ‘gain-of-function’ mechanisms, respectively. Our aim was to investigate PCSK9 N425S (rs28362261) and E670G (23968A>G) (rs 505151) gene polymorphisms in regard to their effects on serum lipoprotein level and development of CHD.Method: PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) method is used for determination of PCSK9 variants.Findings: In the patient group, frequency of PCSK9 E670G mutant T allele is higher than controls. Our findings indicate that these variants might be an independent risk factors in development of CHD. In the patient group, we observed the PCSK9 E670G normal A allele is associated with increased serum total-cholesterol level.Conclusion: In conclusion we suggest that the PCSK9 gene variants might pose a risk in susceptibility to CHD, since PCSK9 has detrimental effects on serum lipids.