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Endothelial lipase gene polymorphism (584 C/T) in coronary artery patients among a Turkish population

Solim, L.A. | Gencan, I.A. | Çelik, B. | Ataacar, A. | Koç, U. | Büyükören, B. | Isbir, S.

Article | 2018 | In Vivo32 ( 5 ) , pp.1105 - 1109

Background/Aim: The endothelial lipase gene (LIPG) has a major role in regulating high density lipoprotein cholesterol (HDL-C), therefore this study investigated whether LIPG is associated with coronary artery disease (CAD) in a Turkish population. Materials and Methods: The LIPG (584 C/T) mutation was analyzed in 74 CAD patients and 73 controls. Results: There was a significant difference between the two groups regarding the mutant T allele frequencies (?2=0.456, p=0.020; 26.7% and 41.8% in patient and control groups, respectively) for 584 C/T. Even though the TT genotype was not significantly different, it had p=0.054 which suppor . . .ted our results. Conclusion: The endothelial lipase gene (584 C/T) T allele might be protective in association with coronary artery disease. Therefore, LIPG gene is related to risk for CAD in the Turkish population probably through altering HDL-C metabolism. © 2018 Institute of Electrical and Electronics Engineers Inc. All rights reserved Daha fazlası Daha az

Paraoxonase-1 192/55 polymorphisms and the risk of lung cancer in a Turkish population

Aksoy-Sagirli, P. | Cakmakoglu, B. | İşbir, Turgay | Kaytan-Saglam, E. | Kizir, A. | Topuz, E. | Berkkan, H.

Article | 2011 | Anticancer Research31 ( 6 ) , pp.2225 - 2229

Aim: The purpose of the present study was to investigate the possible association of paraoxonase-1 (PON1) 192/55 polymorphisms with lung cancer (LC) risk in a Turkish population. Materials and Methods: A population-based, case-control study was carried out, including 223 patients with LC and 234 controls. The frequencies of PON1 192/55 genotypes were compared in patient and control groups using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Results: Distribution of PONl 192 R (+) genotype was found to be significantly higher in patients with LC compared to the controls (odds ratio: 1.497, 95% . . . confidence interval: 1.034-2.166). This difference was especially noteworthy in patients with small cell carcinoma and squamous cell carcinoma. Conclusion: This is the first case-control study on the association between PON1 polymorphisms and LC susceptibility in a Turkish population. Our results suggest that PON1 192 polymorphsim is associated with an increased risk of LC in the Turkish population and may be a useful genetic marker for small cell and squamous cell carcinoma Daha fazlası Daha az

Evaluation of ER? and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women

Kurt, O. | Yilmaz-Aydogan, H. | Uyar, M. | İşbir, Turgay | Seyhan, M.F. | Can, A.

Article | 2012 | Molecular Biology Reports39 ( 6 ) , pp.6723 - 6730

https://hdl.handle.net/20.500.11831/1174

Polymorphisms in the growth differentiation factor 5 (GDF 5) gene in knee osteoarthritis

Sabah-Ozcan, S. | Korkmaz, M. | Balbaloglu, O. | Percin, F. | Yilmaz, N. | Erdogan, Y. | Gunaydin, I.

Article | 2017 | Journal of the College of Physicians and Surgeons Pakistan27 ( 10 ) , pp.602 - 605

Objective: To identify the frequency of the rs143383 SNP in the GDF5 gene, which is located in the 5'-untranslated region of Turkish population with knee osteoarthritis (OA). Study Design: A case-control study. Place and Duration of Study: Orthopedics and Traumatology Department, Bozok University Medical Faculty, Yozgat, Turkey, from 2012 to 2014. Methodology: Patients diagnosed with OA (n=94) and patients who did not have joint complaints (n=279) were enrolled in this study. Patients diagnosed with osteoarthritis according to the 1986 American College of Rheumatology osteoarthritis criteria and Kellgren and Lawrence scores were inv . . .estigated, based on age, gender, and X-ray findings. Blood samples were taken for the identification of GDF5 (rs143383) SNPs by PCR/RFLP, according to a standard protocol. Results: This study included 373 patients. The OA group (25.2%; n=94) was characterized by specific genotypes: TT (39.4%; n=37); heterozygotes (TC; 45.7%; n=43); and homozygotes (CC; 14.9%; n=14). The control group (74.8%; n=279) was comprised of TT (26.5%; n=74), TC (54.8%; n=153), and CC (18.6%; n=52) genotypes. An analysis of rs143383 SNP of the GDF5 gene polymorphism revealed that the rs143383 TT genotype had a higher risk for OA (crude OR=1.798, 95% CI=1.010-2.941, p=0.021). Conclusion: This study demonstrated that there is a correlation of +104T/C polymorphism in the 5'-UTR of GDF5 with knee OA in a Turkish population Daha fazlası Daha az

Functional genetic variants in apoptosis-associated FAS and FASL genes and risk of bladder cancer in a Turkish population

Verim, L. | Timirci-Kahraman, O. | Akbulut, H. | Akbas, A. | Ozturk, T. | Turan, S. | İşbir, Turgay

Article | 2014 | In Vivo28 ( 3 ) , pp.397 - 402

Background: The present study aimed to evaluate the role of functional polymorphisms of apoptosis-associated Fatty acid synthase (FAS) and fatty acid synthase ligand (FASL) genes in bladder cancer susceptibility as first presentation in a Turkish population. Patients and Methods: Genotypes of 91 patients with bladder cancer and 101 healthy controls were evaluated for the polymorphism of FAS-1377 G/A and FASL-844 T/C genes by polymerase chain reaction and restriction fragment length polymorphism analysis. Results: The frequency of the FAS-1377 G allele was significantly higher in patients with bladder cancer compared to controls (p

Association of interleukin 1beta gene (+3953) polymorphism and severity of endometriosis in Turkish women

Attar, Rukset | Agachan, B. | Kucukhuseyin, O. | Toptas, B. | Attar, E. | İşbir, Turgay

Article | 2010 | Molecular Biology Reports37 ( 1 ) , pp.369 - 374

Endometriosis is regarded as a complex trait, in which genetic and environmental factors contribute to the disease phenotype. We investigated whether the interleukin (IL) 1beta (+3953) polymorphism is associated with the severity of endometriosis. Diagnosis of endometriosis was made on the basis of laparoscopic findings. Stage of endometriosis was determined according to the Revised American Fertility Society classification. 118 women were enrolled in the study. 78 women didnot have endometriosis, 6 women had stage I, 3 had stage II, 13 had stage III and 18 had stage IV endometriosis. Polymerase Chain Reaction (PCR), Restriction Fra . . .gment Length Polymorphism (RFLP), and agarose gel electrophoresis techniques were used to determine the IL 1beta (+3953) genotype. Frequencies of the IL-1beta (+3953) genotypes in the control group were: CC, 0.397; TT, 0.115; CT, 0.487. Frequencies of the IL-1beta (+3953) genotypes in cases were: CC, 0.375; TT, 0.225; CT, 0.400. We found a 2.22 fold increase in TT genotype in the endometriosis group. However, the difference was not statistically significant (P > 0.05). We also observed an increase in the frequency of IL-1beta (+3953) T allele in the endometriosis group. However, the difference was not statistically significant. We also investigated the association between IL-1beta (+3953) polymorphism and the severity of endometriosis. The frequencies of CC+CT genotypes in stage I, III and IV endometriosis patients were 83.3, 84/6 and 72.2%, respectively; and TT genotypes were 16.7, 15.4 and 27.8%, respectively. We observed a statistically insignificant increase in TT genotype in stage IV endometriosis (P > 0.05). We suggest that IL-1beta (+3953) polymorphism is not associated with endometriosis in Turkish women. © 2009 Springer Science+Business Media B.V Daha fazlası Daha az

Association between FAS and FASL Genetic Variants and Risk of Primary Brain Tumor

Dalan, A.B. | Timirci-Kahraman, O. | Turan, S. | Kafadar, A.M. | Yaylim, I. | Ergen, A. | İşbir, Turgay

Article | 2014 | International Journal of Neuroscience124 ( 6 ) , pp.443 - 449

The purpose of this study was to investigate whether functional polymorphisms of apoptosis pathway genes FAS and FASL are associated with the development of primary brain tumors. The study constituted 83 patients with primary brain tumor and 108 healthy individuals. In the present case-control study, the primary brain tumors were divided into two groups: gliomas and meningiomas. Evaluation of FAS -1377 G/A and FASL -844 T/C gene polymorphisms were performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). To confirm the genotyping, results were examined by DNA sequencing method. Our results wer . . .e analyzed by SPSS. The frequency of the FAS -1377 AA genotype was significantly lower in meningioma and glioma patients compared to controls (p = 0.023; p = 0.001, respectively). Multivariate logistic regression analysis revealed that FAS -1377 AA genotype was associated with decreased risk of meningioma and glioma (OR = 0.092, 95% CI: 0.012-0.719, p = 0.023 for meningiomas; OR = 0.056, 95% CI: 0.007-0.428, p = 0.006 for gliomas). However, there was no significant differences in FASL -844 T/C genotype frequencies between patients with primary brain tumors and controls (p > 0.05). In this study, combined genotypes were evaluated for association with primary brain tumors. Combined genotype analysis showed that the frequencies of AATC and AACC were significantly lower in glioma patients in comparison with those of controls (p = 0.023; p = 0.022, respectively). This study provides the first evidence that FAS -1377 AA genotype may have a protective effect on the developing primary brain tumor in a Turkish population. © 2014 Informa Healthcare USA, Inc Daha fazlası Daha az

Is there any correlation between TNF-related apoptosisinducing ligand (TRAIL) genetic variants and breast cancer?

Yildiz, Y. | Yaylim-Eraltan, I. | Arikan, S. | Ergen, H.A. | Küçücük, S. | İşbir, Turgay

Article | 2010 | Archives of Medical Science6 ( 6 ) , pp.932 - 936

Introduction: TNF-related apoptosis-inducing ligand (TRAIL) is a death ligand and also a member of the TNF superfamily. We aimed to investigate the possible relationship between TRAIL and breast cancer. Here, we report the results of the first association study on genetic variation in the TRAIL gene and its effect on breast cancer susceptibility and prognosis. Material and methods: A C/T polymorphism at 1595 position in exon 5 of the TRAIL gene was genotyped in a Turkish breast cancer case-control population including 53 cases (mean age: 55.09 ±11.63 years) and 57 controls (mean age: 57.17 ±17.48 years) using polymerase chain reacti . . .on-restriction fragment length polymorphism (PCR-RFLP) analysis. Results: There were no differences in the distribution of TRAIL genotypes and frequencies of the alleles in the breast cancer patients and controls. A heterozygous TRAIL CT polymorphism in exon 5 was present in 8.3% of tumour stage III-IV and 48.8% of stage I-II patients, and in 42.1% of controls. The reduced frequency of this genotype in patients who had advanced tumour stage was statistically significant (p = 0.017). Conclusions: Our findings indicate that genetic variants of TRAIL at position 1595 in exon 5 might be associated with progression of breast cancer. Copyright © 2010 Termedia & Banach Daha fazlası Daha az

Paraoxonase 1 192 and 55 polymorphisms in osteosarcoma

Ergen, A. | Kılıcoglu, O. | Ozger, H. | Agachan, B. | İşbir, Turgay

Article | 2011 | Molecular Biology Reports38 ( 6 ) , pp.4181 - 4184

Paraoxonase is an HDL-associated enzyme that plays a preventive role against oxidative stres. Previous studies suggested that involved an amino acid substitution at position 192 gives rise to two alloenzymes with a low activity (Q allele) and a high activity (R allele) towards paraoxon. There also exists a second polymorphism of the human PON1 gene affecting amino acid 55, giving rise to a leucine (L-allele) substitution for methionine (M-allele). PON1 gene polymorphisms were studied in 50 patients with osteosarcoma and 50 healthy controls. Paraoxonase genotypes were determined by PCR-RFLP. We found a reduction in the frequency of P . . .ON1 192 R allele in patients (P = 0.015). Besides, PON1 192 wild type QQ genotype (P = 0.015) and PON1 55 wild type L allele (P = 0.001) were higher in patients compared to healthy controls. PON1 192 QQ genotype was associated with osteosarcoma in multivariate logistic regression analysis. Our findings have suggested that PON1 192 wild type genotypes may be associated with a risk of developing osteosarcoma. © Springer Science+Business Media B.V. 2010 Daha fazlası Daha az

Genetic variants of vascular endothelial growth factor and risk for the development of endometriosis

Attar, Rukset | Agachan, B. | Kuran, S.B. | Toptas, B. | Eraltan, I.Y. | Attar, E. | İşbir, Turgay

Article | 2010 | In Vivo24 ( 3 ) , pp.297 - 301

Backround/Aims: Endometriosis is regarded as a complex disese, in which genetic and environmental factors contribute to the disease phenotype. Whether vascular endothelial growth factor (VEGF) -460 C/T and +405 G/C polymorphisms are associated with susceptibility to endometriosis was investigated. Patients and Methods: Diagnosis of endometriosis was made on the basis of laparoscopic findings. Stage of endometriosis was determined according to the Revised American Fertility Society classification. Sixty out of the 112 women enrolled had no endometriosis, 11 had mild or early-stage endometriosis and 41 had severe endometriosis. Polyme . . .rase chain reaction (PCR), restriction fragment length polymorphism and agarose gel electrophoresis techniques were used to determine the -460 C/T and +405 G/C genotypes. Results: The VEGF +405 G/C genotype frequencies among the cases and controls were CC 55.8% and 35%; GC 30.8% and 50.0%; GG 13.5% and 15.0%, respectively. The allelic frequencies were C 71.15% (cases) and 60.0% (controls) and G 28.8% (cases) and 40% (controls). Patients with endometriosis had a higher incidence of the VEGF +405 CC genotype compared with the controls (p=0.027). Women with VEGF +405 CC genotype had 2.3-fold higher risk for endometriosis. VEGF +405 GC genotype and G allele in the control group was higher than the endometriosis group (p=0.039, p=0.027 respectively). The VEGF -460 C/T genotype frequencies among the cases were CC 21.2%, CT 26.9% and TT 51.9%; the C and T allelic frequencies were 34.6% and 65.3%, respectively. The VEGF -460 genotype frequencies among the controls were CC 31.70%, CT18.3% and TT 50.0%; the C and T allelic frequencies were 40.8% and 59.1%, respectively (p>0.05). There was linkage disequilibrium between VEGF -460 C/T and +405 G/C polymorphisms (D': 0.197, r2=0.013). We observed that the VEGF 460T/405C haplotype frequency was significantly higher in patients compared to controls (p=0.011). Conclusion: Our data suggest that the CC genotype of VEGF +405 and 460T/405C haplotypes of VEGF may be associated with the risk of endometriosis, but the G allele of VEGF +405 appears to be protective against endometriosis Daha fazlası Daha az

Investigation of caspase 9 gene polymorphism in patients with non-small cell lung cancer

Ercan, S. | Arinc, S. | Yilmaz, S.G. | Altunok, C. | Yaman, F. | İşbir, Turgay

Article | 2019 | Anticancer Research39 ( 5 ) , pp.2437 - 2441

Background/Aim: Non-small cell lung cancer (NSCLC) is one of the most common forms of lung cancer and the leading cause of cancer-related deaths in the world. Caspase 9 (CASP9) plays a central role in the intrinsic apoptotic pathway. The aim of the study was to investigate the role of caspase 9 gene polymorphism in patients with non-small cell lung cancer. Materials and Methods: The study included 96 NSCLC cases and 67 controls. CASP9 Ex5+32 G>A polymorphism was investigated by real-time polymerase chain reaction. Results: There was a significant difference between the groups in the frequency of CASP9 genotypes (p=0.008). The number . . . of the carriers of the ancestral GG genotype, was significantly higher in the NSCLC group than in the control (p=0.009). The heterozygote GA genotype and mutant A allele frequency were significantly higher in the control group compared to the NSCLC group (p=0.005, p=0.009, respectively). Serum CASP9 levels were significantly lower in the patients group than in the control group ( Daha fazlası Daha az

The association of MTHFR C677T gene variants and lipid profiles or body mass index in patients with diabetic and nondiabetic coronary heart disease

Kucukhuseyin, O. | Kurnaz, O. | Akadam-Teker, A.B. | İşbir, Turgay | Bugra, Z. | Ozturk, O. | Yilmaz-Aydogan, H.

Article | 2013 | Journal of Clinical Laboratory Analysis27 ( 6 ) , pp.427 - 434

Background: The aim of this study is to investigate whether methylenetetrahydrofolate reductase (MTHFR) C677T mutation is associated with the development of hyperlipoproteinemia and obesity in coronary heart disease (CHD). Methods: This study was carried out in 82 diabetic and 112 nondiabetic patients with CHD and in 138 CHD-free healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis techniques were used to determine the MTHFR C677T. Results: Distributions of MTHFR genotypes (C677T dbSNP: rs1801133) were similar in our study groups (P > 0.05). There was no stat . . .istical association between biochemical parameters and genotype distribution in nondiabetic CHD patients, while diabetic CC genotype carriers have elevated levels of body mass index (BMI) independently from lipid profiles (P = 0.002). In diabetic CHD patients, while evaluating the clinical parameters according to gender, it was found that gender had an impact on BMI (P = 0.013). Due to this gender effect, a multivariate analysis was conducted on the diabetic CHD patient group. The multivariate logistic regression analysis confirmed that the MTHFR-CC genotype was associated with elevated BMI levels in diabetic CHD patients (odds ratio [OR] = 5.42, P = 0.003). Conclusion: The results of the present study demonstrated that possessing T allele of MTHFR C677T mutation indicates a protective association on BMI independently from other risk factors. © 2013 Wiley Periodicals, Inc Daha fazlası Daha az

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