Browsing by Author "Berdeli, A"

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    A new KCNQ2 mutation and clinical findings
    Gumus, AA; Bilgic, DG; Berdeli, A; Genis, E; Cam, S
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    LY96, UPKIB Mutations and TLR4, CD14, MBL Polymorphisms in Children with Urinary Tract Infection
    Ertan, P; Berdeli, A; Yilmaz, O; Gonulal, D; Yuksel, H
    To evaluate genetic variations of innate immune system such as mannose binding lectin (MBL), Toll like receptor 4 (TLR4), CD14, LY96 (MD2) and Uroplakin 1B (UPK1B) genes in children with recurrent urinary tract infection (UTI). The study included 30 children with recurrent UTI and 30 healthy controls. Blood was drawn and analysed for genetic polymorphisms of MBL, TLR4 and CD14 genes by the PCR-RFLP method. Direct DNA sequencing analysis was performed for LY96 and UPK 1B gene mutation in 10 children from UTI group and 5 children from control group. TLR4 gene Thr399Ile polymorphism was not observed in any child. Genotype distribution and allele frequency of Asp299Gly polymorphism was similar in both groups (p = 0.55). Codon 54 polymorphism of the MBL gene was similar in UTI and control groups (p = 0.49). -159 CC/CT/TT genotypes of CD14 gene was similar between the two groups (p = 0.14). UPK1B and LY96 gene DNA sequence analysis was similar in UTI and control groups. This study is the first study in which different parts of the innate immune system were evaluated in UTI etiopathogenesis in Turkish children. The results did not point out a significant role of any of the genes evaluated in this study.
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    SPP1 Gene Polymorphisms Associated With Nephrolithiasis in Turkish Pediatric Patients
    Tekin, G; Ertan, P; Horasan, G; Berdeli, A
    Purpose: To investigate the association between SPP1 gene polymorphisms and nephrolithiasis. Materials and Methods: A total of 65 pediatric patients and 50 healthy controls were enrolled in this study. Two known polymorphisms of the SPP1 gene, c.240T > C and c.708C > T nucleotide substitutions, both of which were also known as synonymous aminoacid polymorphisms, D80D and A236A, respectively, at SPP1 gene cDNA level, were investigated. SPP1 gene polymorphism was evaluated using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism method. Results: In c.240T > C polymorphism, C allele frequency [Odds Ratio (OR), 2.13; 95% Confidence Interval (CI), 1.170 to 3.880; P = .013] and CC genotype distribution (OR, 2.946; 95% CI, 0.832 to 10.431; P = .094) and in c.708C > T polymorphism, T allele frequency (OR, 2.183; 95% CI, 1.197 to 3.980; P = .011) and TT genotype distribution (OR, 3.056; 95% Cl, 0.861 to 10.839; P = .084) were found to be higher in the patient group. Conclusion: SPP1 polymorphisms were found to be associated with nephrolithiasis and it may be suggested that SPP1 gene polymorphism could be a useful marker for evaluation of the early genetic risk factor in childhood nephrolithiasis.
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    The G894T polymorphism on endothelial nitric oxide synthase gene is associated with premature coronary artery disease in a Turkish population
    Cam, SF; Sekuri, C; Tengiz, I; Ercan, E; Sagcan, A; Akin, M; Berdeli, A
    Introduction: The aim of the present study was to investigate the association between premature coronary artery disease and Glu298Asp polymorphism of the endothelial nitric oxide synthase gene. Materials and methods: The eNOS gene polymorphism was analysed in 115 (mean age, 48.1 +/- 7.9 years) Turkish patients with a diagnosis of premature coronary artery disease and 83 (mean age, 44.6 +/- 1.4 years) control subjects. The Glu298Asp polymorphism of the endothelial nitric oxide synthase gene was determined by polymerase chain reaction and restriction fragment length polymorphism. Results: The patients group showed an increase in the frequency of the T allele compared to controls (0.456 versus 0.169, p=0.0001). There was a significant association between the TT genotype and premature coronary artery disease [eNOS TT vs. TG and GG; OR=17.000 (CI 95% 3.952-73.125, p=0.0001)]. The eNOS T/G genotypes were not associated with the number of affected vessels (p > 0.05). In addition, the family history of premature coronary artery disease, smoking, diabetes, obesity, dyslipidemia and eNOS TT genotype were independent risk factors of coronary artery disease. The patients with eNOS TT genotype had 15 fold risk of coronary artery disease compared with the control group [OR= I 5,356(Cl 95%3.262-77.289, p=0.001)]. Conclusions: These results suggest that premature coronary artery disease is associated with the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene in our population. (c) 2004 Elsevier Ltd. All rights reserved.
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    LACK OF ASSOCIATION BETWEEN MCP-1 GENE POLYMORPHISM (-2518G/A) AND PREMATURE CORONARY ARTERY DISEASE
    Cam, FS; Sekuri, C; Sagcan, A; Ercan, E; Tengiz, I; Alioglu, E; Berdeli, A
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    Association of FAS-670A/G and FASL-843C/T Gene Polymorphisms on Allograft Nephropathy in Pediatric Renal Transplant Patients
    Ertan, P; Mir, S; Ozkayin, N; Berdeli, A
    Objective: FAS and FASL polymorphisms are suggested to play an important role in tubulitis that is a major component of acute rejection. The aim of this study was to investigate the role of FAS-670A/G and FASL-843C/T gene polymorphisms on allograft nephropathy in pediatric renal transplant patients Methods: Fifty three patients (22 males 31 females) aged 2 to 20 years (mean 12.3 +/- 0.6) who had renal transplantation and fifty healthy control subjects (25 males 25 females) were enrolled in the study. Pearson's Chi Square test was used for the statistical analysis. Survival rates were estimated with the Kaplan Meier method. Age, sex, chronic renal failure etiology, treatment modality and duration and donor type were recorded. FAS-670A/G and FASL-843C/T gene polymorphisms were compared between renal transplant patients and normal healthy population as well as between renal transplant patients with and without acute rejection. Findings: FAS-670A/G genotypes or alleles were not significantly different between control and transplant patients and among transplant patients with and without acute rejection (P>0.05 for all). FASL-843C/T genotypes and alleles were not different between transplantation and control groups (P>0.05 for all). However, FASL-843C/T alleles were significantly different between patients with and without AR (P=0.02). The percentages of C allele were higher in children with acute rejection (68.8% vs 44.6%). Conclusion: FASL gene polymorphisms may play a major role in acute rejection while FAS polymorphisms have not been found to be different between patients with and without acute, renal graft rejection.
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    ACE I/D gene polymorphism and aerobic endurance development in response to training in a non-elite female cohort
    Cam, S; Colakoglu, M; Colakoglu, S; Sekuri, C; Berdeli, A
    Aim. The aim of this study Was to investigate the association between ACE gene polymorphism and short- and medium-duration aerobic endurance performance improvements in response to the same training regimen in a non-elite female cohort. Methods. Fifty-five female non-elite Caucasian Turkish athletes trained to enhance running speeds corresponding to 70% and 90% of heart rate reserve (V-HRR70 and V-HRR90 respectively) 30 min running speed performance (V-30min) 3 times per week, for 6 weeks. ACE gene polymorphisms studied by PCR analysis. Results. The distribution of genotypes in the whole cohort was 21.8%, 41.8%, 36.4% for II (n=12), ID (n=23) and DD (n=20), respectively. Subjects with ACE II genotype had significantly higher improvements in V-30min and V-HRR70 than the ACE DD group (P<0.05). However, in HRR90 ACE DD genotype had a better performance enhancement in running speed than others (P<0.05). Endurance improvements in the V-HRR70 and in the V-30min showed a linear trend as II>ID>DD (P<0.05 and P<0.01, respectively) while a linear trend as DD>ID>II (P<0.01) observed in V-HRR90. Conclusion. ACE II genotype may related with better improvements in medium duration aerobic endurance performance whilst ACE DD genotype seems to be more advantageous in performance enhancement in shorter duration and higher intensity endurance activities.
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    The relationship between paraoxanase gene Leu-Met (55) and Gln-Arg (192) polymorphisms and coronary artery disease
    Taskiran, P; Cam, SF; Sekuri, C; Tuzun, N; Alioglu, E; Altintas, N; Berdeli, A
    Objectives: Paraoxonase (PON1) is a high-density lipoprotein (HDL)-associated esterase that hydrolyses lipoperoxides. PON1 serves as a protective factor against oxidative modification of LDL, suggesting that it may play an important role in the prevention of atherosclerotic process. Research has focused on two polymorphisms: leucine (L allele) to methionine (M allele) substitution at codon 55, and glutamine (A allele) to arginine (B allele) substitution at codon 192. Study design: We examined amino acid changes at codon 55 and 192 in the PON1 gene by polymerase chain reaction and using restriction enzymes in 120 patients (92 men, 28 women; mean age 48.2 +/- 4.3 years) with premature coronary artery disease (CAD) and in 102 healthy subjects (80 men, 22 women; mean age 46.8 +/- 5.2 years) with no history of CAD and a normal electrocardiogram. Results: Distribution of genotypes in the patient and control groups at codon 55 was 6.7% and 4.9% for MM, 46.7% and 29.4% for LM, 46.7% and 65.7% for LL, respectively. The frequencies of genotypes at codon 192 were as follows: 4.2% and 2% for RR, 40% and 35.3% for QR, and 55.8% and 62.8% for QQ, respectively. While the frequency of PON1 55M allele was higher in the CAD group (0.3 vs. 0.2), PON1 192R allele frequency did not differ (0.2). There was a significant relationship between the PON1 M/L55 polymorphism and CAD (p=0.017), whereas the R/Q192 polymorphism was not associated with CAD (p=0.445). Conclusion: These data suggest that the PON1 M/L55 polymorphism shows a significant relationship with CAD and the Q/R192 polymorphism is not a major risk factor causing susceptibility to CAD in our population.
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    No association of IL-6 gene polymorphism (474 G/C) with premature coronary artery disease
    Sekuri, C; Cam, FS; Tengiz, I; Sagcan, A; Ercan, E; Akin, M; Berdeli, A
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    G protein β3 subunit gene polymorphism in Turkish hypertensives
    Alioglu, E; Ercan, E; Tengiz, I; Yildiz, A; Türk, UO; Saygi, S; Çam, FS; Berdeli, A
    Objective: G protein is one of the most important regulators of intracellular signaling pathways. C825T polymorphism of G protein (33 subunit is associated with increased intracellular signal transduction. The 825T allele has been found associated with a variety of cardiovascular risk factors, including hypertension. The aim of the present study was to investigate the association between the C825T polymorphism of the G protein beta 3 subunit and essential hypertension in Turkish population. Methods: This cross-sectional, case-controlled study included 209 patients with essential hypertension (Patient group) and 82 subjects with normal blood pressure (Control group). The G protein 133 subunit C825T gene polymorphism was determined by polymerase chain reaction. Hypertension was defined according to JNC VII criteria. Statistical analysis was performed using Chi square and unpaired t tests. Logistic regression analysis was used to study association between hypertension and genotypes. Results: We found that the frequencies of the G protein 133 subunit C825T polymorphism in hypertensive and control groups were 17.7%, 59.3%, 23.0% and 32.9%, 48.8%, 18.3%, (CC, CT, TT) respectively (chi(2)=7.963, p=0.019). In the multivariate logistic regression analysis CT genotype had 2.2 (OR=2.262, 95% CI 1.228-4.167, p=0.009), and TT genotype had 2.3 times (OR=2.335, 95% CI 1.089-5.008, p=0.029) greater risk of hypertension compared to CC genotype. Conclusion: It seems that the G protein (33 subunit C825T gene polymorphism is associated with systolic and diastolic blood pressure. Furthermore, the study indicates that the G protein 133 subunit may be a susceptible gene to essential hypertension. (Anadolu Kardiyol Derg 2008; 8: 337-5)
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    The effects of mesenchymal stem cell on the macrophage phenotype
    Özdemir, AT; Özdemir, RB; Sariboyaci, AE; Uysal, O; Tuglu, MI; Senol, I; Berdeli, A
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    Association between the eNOS (Glu298Asp) and the RAS genes polymorphisms and premature coronary artery disease in a Turkish population
    Berdeli, A; Sekuri, C; Cam, FS; Ercan, E; Sagcan, A; Tengiz, I; Eser, E; Akin, M
    Background: 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.
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    Comprehensive Analysis of a Large-Scale Screen for MEFV Gene Mutations: Do They Truly Provide a Heterozygote Advantage in Turkey?
    Berdeli, A; Mir, S; Nalbantoglu, S; Kutukculer, N; Sozeri, B; Kabasakal, Y; Cam, S; Solak, M
    Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian disease. This study presents the molecular analysis of an MEFV gene mutation screen of 5518 Turkish individuals with clinical diagnoses of FMF. Patients were genetically diagnosed using the FMF StripAssay and DNA sequencing analysis. Contrary to the results achieved by the FMF StripAssay, DNA sequencing analysis identified large-scale coding and noncoding novel sequence variants, together with a significant group (76%) of individuals who were receiving colchicine and had a single heterozygous mutation, despite the recessive inheritance of FMF. In conclusion, sequence analysis, unlike other routine laboratory techniques, may enable screening for a broad range of nucleotide variations and may prevent less common, population-restricted, novel sequence variants from being overlooked.
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    RENAL AGENESIS AND HYOPLASIA IN HUMANS ARE NOT ASSOCIATED GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR
    Evrengul, H; Ertan, P; Serdaroglu, E; Yuksel, S; Mir, S; Ergon, EY; Berdeli, A