Browsing by Author "Cam, FS"
Now showing 1 - 20 of 27
Results Per Page
Sort Options
Item Genes predisposing tunneled catheter thrombosis in hemodialysis patientsSenarslan, DA; Gümüs, AA; Cam, FS; Kurdal, ATBackground: This study aims to investigate the association of genes predisposing thrombophilia with tunneled catheter thrombosis in hemodialysis patients. Methods: Between October 2018 and December 2020, we compared the frequencies of genetic polymorphisms causing thrombophilia, including prothrombin G20210A, factor V Leiden, methylene tetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, plasminogen activator inhibitor (PAI), factor XIII V34L and clinical characteristics of 52 patients with a history of >= 2 tunneled catheter thrombosis occlusions within a year (Group 1; 24 males, 28 females; mean age: 62 +/- 8.9 years; range, 45 to 77 years), 52 patients who underwent their first tunneled catheter thrombosis insertion (Group 2; 29 males, 23 females; mean age: 63 +/- 15.2 years; range, 22 to 87 years), and 51 healthy controls (Group 3; 26 males, 25 females; mean age: 34 +/- 9.2 years; range, 19 to 54 years). Results: Groups 1 and 2 carried the MTHFR A1298C (p=0.048) and compound heterozygous MTHFR A1298C and C677T (p=0.048) polymorphisms more frequently than Group 3. However, subgroup analysis results were not statistically significant. The other polymorphisms were distributed similarly in all three groups. The MTHFR polymorphisms had a weak effect on tunneled hemodialysis catheter thrombosis in neural network analysis. Conclusion: Our study results indicated that there was a concomitance of MTHFR polymorphisms with hemodialysis-dependent chronic kidney disease. The MTHFR A1298C and compound heterozygous MTHFR polymorphisms may be associated with tunneled hemodialysis catheter thrombosis. Thrombophilia gene screening may be recommended in hemodialysis patients undergoing tunneled hemodialysis catheter thrombosis at least twice in a year.Item Evidence of associations between brain-derived neurotrophic factor (BDNF) serum levels and gene polymorphisms with tinnitusCoskunoglu, A; Orenay-Boyacioglu, S; Deveci, A; Bayam, M; Onur, E; Onan, A; Cam, FSBackground: Brain-derived neurotrophic factor (BDNF) gene polymorphisms are associated with abnormalities in regulation of BDNF secretion. Studies also linked BDNF polymorphisms with changes in brainstem auditory-evoked response test results. Furthermore, BDNF levels are reduced in tinnitus, psychiatric disorders, depression, dysthymic disorder that may be associated with stress, conversion disorder, and suicide attempts due to crises of life. For this purpose, we investigated whether there is any role of BDNF changes in the pathophysiology of tinnitus. Materials and Methods: In this study, we examined the possible effects of BDNF variants in individuals diagnosed with tinnitus for more than 3 months. Fifty-two tinnitus subjects between the ages of 18 and 55, and 42 years healthy control subjects in the same age group, who were free of any otorhinolaryngology and systemic disease, were selected for examination. The intensity of tinnitus and depression was measured using the tinnitus handicap inventory, and the differential diagnosis of psychiatric diagnoses made using the Structured Clinical Interview for Fourth Edition of Mental Disorders. BDNF gene polymorphism was analyzed in the genomic deoxyribonucleic acid (DNA) samples extracted from the venous blood, and the serum levels of BDNF were measured. One-way analysis of variance and Chi-squared tests were applied. Results: Serum BDNF level was found lower in the tinnitus patients than controls, and it appeared that there is no correlation between BDNF gene polymorphism and tinnitus. Conclusions: This study suggests neurotrophic factors such as BDNF may have a role in tinnitus etiology. Future studies with larger sample size may be required to further confirm our results.Item LACK OF ASSOCIATION BETWEEN MCP-1 GENE POLYMORPHISM (-2518G/A) AND PREMATURE CORONARY ARTERY DISEASECam, FS; Sekuri, C; Sagcan, A; Ercan, E; Tengiz, I; Alioglu, E; Berdeli, AItem Evaluation of the CRISPR/Cas9 directed mutant TP53 gene repairing effect in human prostate cancer cell line PC-3Batir, MB; Sahin, E; Cam, FSProstate cancer is a common health problem among men worldwide and most of these prostate cancer cases are related to a dysfunctional mutant Tumor Protein p53 (TP53) gene. However, the CRISPR/Cas9 system can be used for repairing of a dysfunctional mutant TP53 gene in combination with donor single-stranded oligodeoxynucleotide (ssODN) via cells' own homology-directed repair (HDR) mechanism. In this study, we aimed to evaluate the CRISPR/Cas9 repairing efficiency on TP53 414delC (p.K139fs*31) null mutation, located in the TP53 gene, of human prostate cancer cell line PC-3 in combination with ssODNs. According to the next-generation sequencing results, TP53 414delC mutation was repaired with an efficiency of 19.95% and 26.0% at the TP53 414delC position with ssODN1 and ssODN2 accompanied by sgRNA2 guided CRISPR/Cas9, respectively. Besides, qPCR and immunofluorescence analysis showed that PC-3 cells, the TP53 414delC mutation of which were repaired, expressed wild type p53 again. Also, significantly increased number of apoptotic cells, driven by the repaired TP53 gene were detected compared to the control cells by flow cytometry analysis. As a result, sgRNA2 guided CRISPR/Cas9 system accompanied by ssODN was shown to effectively repair the TP53 414delC gene region and inhibit the cell proliferation of PC-3 cells. Therefore, the effects of the TP53 414delC mutation repairment in PC-3 cells will be investigated in the in vivo models for tumor clearance analysis in the near future.Item Effect of the asp298 variant of endothelial nitric oxide synthase on patients with early coronary artery disease in a Turkish populationCam, FS; Sekuri, C; Ercan, E; Sagcan, A; Berdeli, AItem Analysis of the dermatoglyphics in Turkish patients with Klinefelter's syndromeCam, FS; Gul, D; Tunca, Y; Fistik, T; Erdogan, MO; Yildiz, H; Erdem, S; Solak, MThe word dermatoglyphics indicates study of epidermal ridge configuration on palms, soles and fingertips. This investigation was aimed to analyze dermatoglyphic patterns in Klinefelter's syndrome (KS) patients. The study cohort consisted of 57 cases and 25 controls. The prints were taken by using the ink method. Fingertip patterns, triradial counts, a-t-d angle and a-b ridge count were studied. There were significant differences in radial loops and whorls (p < 0.05), and there were very highly significant differences in arches (p < 0.001) in KS patients as compared to controls. Dermatoglyphic patterns at the hypothenar area (p < 0.05), and areas between at the I. interdigital and thenar sites (p < 0.001) have been found to be significantly different in KS patients compared to controls. Total ridge counts (TRC), a-b, a-t-d angels were not different in the two groups (p > 0.05). A definite correlation between the dermatoglyphic patterns and the KS has been shown.Item Relationship Between Chronic Tinnitus and Glial Cell Line-Derived Neurotrophic Factor Gene rs3812047, rs1110149, and rs884344 Polymorphisms in a Turkish PopulationOrenay-Boyacioglu, S; Coskunoglu, A; Caki, Z; Cam, FSGlial cell line-derived neurotrophic factor (GDNF) plays a key role in early development of central auditory pathway and the inner ear. However, the auditory pathway studies of GDNF gene polymorphisms are scarce in the literature, and the studies especially associated with tinnitus are limited. Our study aimed to identify whether GDNF gene polymorphisms play any roles in the pathophysiology of tinnitus by investigating the relationship between tinnitus and GDNF polymorphisms. A total of 52 patients with chronic tinnitus and ages ranging from 18 to 55 were admitted to the Ear-Nose-Throat outpatient clinic of Celal Bayar University Medical Faculty Hospital of Manisa, Turkey and constituted the study group. Another 42 patients of the same age range, without tinnitus symptoms and lacking any systemic disease, were also admitted to the clinic and formed the control group. The tympanometric, audiological, and psychoacoustic assessments of the subjects were performed. Deoxyribonucleic acid samples obtained using venous blood taken for routine inspections were used to investigate GDNF gene polymorphisms (rs884344, rs3812047, and rs1110149) by polymerase chain reaction-based restriction fragment length polymorphism method. No correlation could be detected between GDNF rs884344 and rs3812047 polymorphisms and subjects with tinnitus (p > 0.05). Heterozygosity was significantly lower for GDNF rs1110149 polymorphism in tinnitus subjects compared to the controls (p < 0.05). However, the allele frequencies for all 3 polymorphisms were not significantly different between tinnitus and control groups (p > 0.05). Failure to detect correlations between tinnitus and GDNF gene polymorphisms suggests this may be due to the fact that the GDNF gene has a variable expression pattern in different tissues and pathologies. Therefore, the study should be improved and its scope should be expanded by including a larger group of patients and different tissues to investigate the expression pattern of GDNF.Item Relationship between C-reactive Protein/Albumin Ratio and Subclinical Inflammation in Patients with Familial Mediterranean FeverOnder, ENA; Cam, FS; Ertan, PBackground Familial Mediterranean Fever (FMF), which is characterised by recurrent episodes of fever with serositis, is associated with ongoing inflammation without clinical findings during attack-free periods, leading to amyloidosis, the most important complication of FMF. The objective of this study was to investigate the C-reactive protein/albumin ratio (CAR) as a marker to identify subclinical inflammation in symptom-free FMF children and compare the CAR with other systemic inflammatory markers such as mean platelet volume (MPV), red cell distribution width (RDW), neutrophil/ lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR). Material and Methods We included 100 patients and 70 healthy subjects. Hospital records were obtained to collect data on laboratory findings and genetic mutations. Results We found that the CAR levels of our FMF patients were significantly higher than those of the control group. We also evaluated that the CAR values had a higher area-under-thecurve value than the other systemic inflammation parameters including CRP, MPV, RDW, NLR, PLR based on Receiver-Operating Characteristics (ROC) analysis. Conclusion It is important to identify subclinical inflammation in FMF patients with simple, reliable, easily accessible markers to avoid amyloidosis. Although the CAR might be used to assess subclinical inflammation in paediatric FMF patients, the prognostic value of CAR is not superior to CRP. Merging CRP and albumin into a single index thus provides no additional benefit in detecting subclinical inflammation in FMF.Item Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype CorrelationsGun-Bilgic, D; Aydin-Gumus, A; Bilgic, A; Cam, FSBackground: Mutations of the BRCA1/2 genes are associated with increased breast and ovarian cancer. The aim of this study was to investigate the founder mutations of the BRCA1 and BRCA2 genes in the Turkish population in the Aegean region as well as their genotype-phenotype correlations. Methods: All the patients were provided with BRCA1/2 testing criteria according to the National Comprehensive Cancer Network. QIAseq Targeted DNA Panels were used for the BRCA1/2 coding regions. Results: Of the 181 studied patients, 38 (21%) were found to carry pathogenic or likely pathogenic mutations, while 20 (11%) patients were found to carry variants of unknown significance. The most common pathogenic mutations were NM_000059.4:c.2765dup in the BRCA2 gene and NM_007300.4:c.981_982del and NM_007294.3:c. 5266dup in the BRCA1 gene. p.Lys3326* was the most frequently detected variant of unknown significance (6/ 181). Regarding genotype-phenotype correlations, the NM_007300.4:c.981_982del mutation in BRCA1 gene was found to be milder in terms of breast cancer. The most frequent cancers other than those related to BRCA genes, observed in the relatives of the patients who had pathogenic variants and variants of unknown significance, were endometrium cancer and leukemia, respectively. Conclusions: NM_007294.3:c.5266dup was found to be a candidate founder mutation in the Turkish population. NM_007300.4:c.981_982del mutation seems to have a milder course in terms of breast cancer. A significantly increased frequency of p.Lys3326* variant in breast cancer and ovarian cancer patients compared with that in the 1,000 Genomes Project suggesting that this variant has a slight effect on BRCA2 function.Item Relation of RAS Gene Polymorphisms with Impaired Glucose Tolerance in Patient with End Stage Renal FailureOz, D; Avcu, AT; Kursat, S; Bahadir, HC; Cam, FSRenin angiotens in system (RAS) is a system that is the role of renal hemodynamics, blood pressure and fluid electrolyte balance regulation with progression to end-stage renal disease (ESRD). Angiotensin II (AII),the main Mediator of this system, is thought to cause a functional impairment in insulin receptor and post receptor signaling pathways. Our aim; was to show the relation of angiotensin-converting enzyme (ACE), angiotensin II receptor type 1 (AT1 R) and angiotensinogen gene (AGT) polymorphisms, that cause genetic susceptibility to over activation of RAS, to glucose intolerance,impatient with end stage renal failure. The study included one hundredth patients. Based on fasting plasma glucose values and oral glucose tolerance test second hours glucose values, patients were grouped as normal patients and patients with glucose intolerance [impaired fasting glycemia (IFG), impaired glucose tolerance (IGT) and diabetes mellitus (DM)]. Insulin resistance was calculated by HOMA-IR method and insulin sensitivity index was calculated by ISI-S method. ACE, AT1 R, AGT polymorphisms were detected by polymerase chain reaction (PCR) method. There was no statistically significant difference between distribution of ACE, AT1 R and AGT genotypes and glucose intolerance groups, and insulin resistance. There was a statistically significant difference between MM and TT genotypes and average insulin resistance values (p < 0,04). We have obtained results suggesting a relation between ACE gene D allele and glucose intolerance in patients with end stage renal failure (p=0.06). Moreover, a relation has been shown between AGT gene T allele and insulin resistance (p=0.04).Item Deletion of 18(p) in a fetus determinated holoprosencephalyBoyacioglu, SO; Akyar, HG; Coskunoglu, A; Ulucay, S; Ozkan, MY; Cam, FSItem Renin-angiotensin system gene polymorphisms and premature coronary heart diseaseSekuri, C; Cam, FS; Ercan, E; Tengiz, I; Sagcan, A; Eser, E; Berdeli, F; Akin, MIntroduction Experimental and clinical studies demonstrated that the renin-angiotensin system (RAS) affects the pathogenesis of atherosclerosis and prognosis of coronary heart disease (CHD). The aim of this study was to investigate the genotype distribution and the allele frequencies of three RAS genes polymorphisms and their effects on premature CHD in a Turkish population. Materials and methods One-hundred and fifteen Turkish patients with premature CHD and 128 controls were included into the study. Angiotensin-converting enzyme (ACE), angiotensin II type 1 (AT(1)) receptor and angiotensinogen (AGT) gene polymorphisms were analysed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Results The patients group showed an increased frequency of the ACE D allele compared with controls (65% vs. 35%, p=0.0001). There was a significant association between the DD genotype and premature CHD (ACE DD vs. ID and II; odds ratio [OR]=2.82 [CI 95% 1.33-2.91, p=0.002]). Also, we observed increased premature CHD risk associated with higher frequencies of the AGT MM genotype in patients when compared with controls (AGT MM VS. TT and MT OR=1.92 [Cl 95% 1.11-3.33, p=0.018]). We found a significant association between AT(1)-receptor AA genotype and decreased risk of premature CHD (AT1R AA vs. AC and CC, OR= 0.57[CI 95% 0.34-0.95, p=0.03]). Conclusions We demonstrated that increased premature CHD risk is associated with higher frequencies of the ACE DD and AGT MM genotypes. These findings indicate a synergistic contribution of ACE DD and AGT MM polymorphisms to the development of premature CHD. Also, our results suggest that family history, smoking, diabetes, hypertension, obesity and ACE DD genotype were independent risk factors for premature CHD.Item No association of IL-6 gene polymorphism (474 G/C) with premature coronary artery diseaseSekuri, C; Cam, FS; Tengiz, I; Sagcan, A; Ercan, E; Akin, M; Berdeli, AItem Association between the eNOS (Glu298Asp) and the RAS genes polymorphisms and premature coronary artery disease in a Turkish populationBerdeli, A; Sekuri, C; Cam, FS; Ercan, E; Sagcan, A; Tengiz, I; Eser, E; Akin, MBackground: The renin-angiotensin system (RAS) and endothelial nitric oxide (NO) affect the pathogenesis of atherosclerosis and prognosis of coronary artery disease (CAD). Previous epidemiologic data suggested that genetic factors are more likely to affect young rather than old people. Our objective was to investigate the association between the polymorphisms of eNOS (Glu298Asp) and the RAS genes and premature CAD in a Turkish population. Methods: A total of 115 Turkish patients with premature CAD and 83 controls were included in the study. ACE I/D, AT1R A/C, AGT T/M and eNOS Glu298Asp gene polymorphisms were analysed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Results: It was found that increased premature CAD risk is associated with higher frequencies of the ACE DD [OR: 2.600 (CI 95% 1.395-4.847,p=0.002)], AGT MM [OR=2.407 (Cl 95% 1.267-4.573,p=0.007)] and eNOS 894TT [OR-17.000 (CI 95% 3.952-73.125,p<0.001)] genotypes. Carriers of ACE DD+eNOS 894TT (p=0.002), AGT MM+eNOS 894TT (p=0.001), ATIR AA+eNOS 894TT and ATIR non-AA+eNOS 894TT (p=0.002) genotypes were significantly associated with the risk of premature CAD.Item Chronic tinnitus and BDNF/GDNF CpG promoter methylations: a case-control studyOrenay-Boyacioglu, S; Caliskan, M; Boyacioglu, O; Coskunoglu, A; Bozkurt, G; Cam, FSBrain-derived neurotrophic factor (BDNF) and Glial-derived neurotrophic factor (GDNF) are neurotrophic factors that play key roles in the auditory pathway. While the relationship between serum levels and polymorphisms of BDNF/GDNF and chronic tinnitus is emphasized in the literature, there is no study showing the link between the promoter methylations of these genes and tinnitus. For this purpose, the relationship between chronic tinnitus and peripheral blood derived BDNF/GDNF promoter methylations was investigated to identify their role in the pathophysiology of tinnitus. In this case-control study, we examined the possible effects of BDNF/GDNF methylations in the blood samples of patients with tinnitus complaints for more than 3months. Sixty tinnitus subjects between the ages of 18-55 and 50 healthy control subjects in the same age group who were free of any otorhinolaryngology and systemic disease were selected for examination. Methylation of total 12 CpG sites in BDNF and GDNF promoter regions were determined by the bisulfite-pyrosequencing method. Statistically significant differences were detected between BDNF CpG6 and GDNF CpG3-5-6 methylation ratios in the comparison of control group and the chronic tinnitus patients (P=0.002, 0.0005, 0.00003, and 0.0029, respectively). To our knowledge, this is the first study in the literature investigating the relationship between chronic tinnitus and peripheral blood derived BDNF/GDNF promoter methylations. It is believed that the current results might be supported by investigating the relationships between BDNF/GDNF methylations and genotypes in future research using higher sample sizes.Item Relationship between ace genotype and short duration aerobic performance developmentCerit, M; Colakoglu, M; Erdogan, M; Berdeli, A; Cam, FSWe have previously demonstrated that, ACE D allele may be related with a better performance in short duration aerobic endurance in a homogeneous cohort with similar training backgrounds. We aimed to study the variation in the short-duration aerobic performance development amongst ACE genotypes in response to identical training programs in homogeneous populations. The study group consisted of 186 male Caucasian non-elite Turkish army recruits. All subjects had undergone an identical training program with double training session per day and 6 days a week for 6 months. Performances for middle distance runs (2,400 m) were evaluated on an athletics track before and after the training period. ACE gene polymorphisms were studied by PCR analysis. The distribution of genotypes in the whole group was 16.7% II, n = 31; 46.2% ID, n = 86; 37.1% DD, n = 69. Subjects with ACE DD genotype had significantly higher enhancement than the ID (P < 0.01) and II (P < 0.05) genotype groups. Around 2,400 m performance enhancement ratios showed a linear trend as ACE DD > ACE ID > ACE II (P value for Pearson chi(2) = 0.461 and P value for linear by linear association = 0.001). ACE DD genotype seems to have an advantage in development in short-duration aerobic performance. This data in unison with the data that we have obtained from homogenous cohorts previously is considered as an existence of threshold for initiation of ACE I allele effectiveness in endurance performance. This threshold may be anywhere between 10 and 30 min with lasting maximal exercises.Item Effect of monocyte chemoattractant protein-1 (MCP-1) gene polymorphism in Turkish patients with premature coronary artery diseaseCam, FS; Sekuri, C; Sagcan, A; Ercan, E; Tengiz, S; Aliogiu, E; Berdeli, AObjectives. It has been suggested that monocyte chemoattractant protein-1 (MCP-1) is important in the initiation of atherosclerosis and crucial in monocyte recruitment into the subendothelial lesions. Recent studies have demonstrated that MCP-1 -2518 A>G polymorphism is associated with susceptibility to coronary artery disease (CAD). Since there are conflicting reports on the possible association of MCP-1 -2518 A>G polymorphism with CAD, we investigated the role of this polymorphism in Turkish patients with premature CAD. Material and methods. Genomic DNA was collected from 171 premature CAD patients and 151 healthy individuals. MCP-1 -2518 A>G polymorphism was genotyped using the PCR-RFLP method. Results. There were no differences between genotype distribution and allele frequencies in the premature CAD and control groups (AA: 49.7%; AG: 40.3%; GG: 10.0% in premature CAD groups and AA: 53.7%; AG: 34.4%; GG: 11.9% in controls; p = 0.53). The prevalence of the G allele was 0.302 in patients and 0.291 in controls. Conclusions. Our data demonstrate that MCP-1 -2518 A>G polymorphism is not associated with premature CAD in Turkish patients. Further studies are needed to elucidate the role of this polymorphism in the pathogenesis of CAD in various populations.