Cacina, C. | Yaylim-Eraltan, I. | Arikan, S. | Saglam, E.K. | Zeybek, U. | İşbir, Turgay

Article | 2010 | In Vivo24 ( 2 ) , pp.179 - 183

Background: CDKN1A (p21WAF1/CIP1) plays an important role in cell cycle regulation. Somatic alterations in genes which regulate cell division have been shown to be related to different types of cancer prognosis and survival. The purpose of this study was to investigate the effect of the CDKN1A Ser31Arg and C20T gene polymorphisms in Turkish patients with colorectal cancer. Patients and Methods: CDKN1A Ser/Arg and C20T polymorphisms were studied in 53 patients with colorectal cancer and 64 healthy controls. Genomic DNA was amplified by polymerase chain reaction (PCR) and genotypes were determinated by the restriction fragment length . . .polymorphism (RFLP) method. Results: There were statistically significant differences in the distribution of CDKN1A Ser/Arg genotypes and allele frequencies between colorectal cancer patients and healthy controls (p=0.040 and p=0.01, respectively). CDKN1A C20T genotype frequency did not show any significant differences between patients and controls. We combined the results for C20T and Ser31Arg polymorphisms and observed that a lower risk of colorectal cancer was associated with CT/SerArg combined genotypes compared to controls and this difference was statistically significant (p=0.024; odds ratio (OR)=0.322, 95% confidence interval (CI)=0.114-0.912). C20T C allele and SerSer genotypes significantly increased risk compared to other combined genotypes (p=0.034; OR=1.265, 95% CI=1.020-1.569). Conclusion: The results of present study demonstrated that, potentially, CDKN1A functional polymorphisms may contribute to the risk of colorectal cancer in Turkish Daha fazlası Daha az

Ozdogan, S. | Kafadar, A. | Yilmaz, S.G. | Timirci-Kahraman, O. | Gormus, U. | İşbir, Turgay

Article | 2017 | Anticancer Research37 ( 9 ) , pp.4997 - 5000

Background/Aim: This study is the first to evaluate the relationship of caspase-9 (CASP-9) gene polymorphism with the risk for primary brain tumor development. Materials and Methods: The study group included 43 glioma and 27 meningioma patients and 76 healthy individuals. CASP-9 gene Ex5+32 G>A (rs1052576) polymorphism was analyzed by real-time polymerase chain reaction (RT-PCR). Results: Individuals with the CASP-9 GG genotype had significantly decreased risk of developing a glioma brain tumor (p=0.024). Additionally, the GA genotype was significantly lower in patients with glioma than the control group (p=0.019). A significantly d . . .ecreased risk of developing glioma was found in the A allele carrier group (p=0.024). However, there was no statistically significant relationship between CASP-9 polymorphism and brain meningioma (p=0.493). Conclusion: CASP-9 (rs1052576) mutant A allele seems to be a protective factor for glioma brain tumor. Future studies with a larger sample size will clarify the possible roles of CASP-9 gene in the etiology and progression of primary brain tumors Daha fazlası Daha az

Bektaş-Kayhan, K. | Ünür, M. | Yaylim-Eraltan, I. | Ergen, H.A. | Toptaş, B. | Hafiz, G. | İşbir, Turgay

Article | 2010 | In Vivo24 ( 5 ) , pp.755 - 760

Background: It has been hypothesised that vitamin D receptor (VDR) gene polymorphisms may influence both the risk of cancer occurrence and prognosis. Materials and Methods: The distribution of VDR Taq I polymorphism in 64 patients with OSCC was determined by polymerase chain reaction based restriction fragment length polymorphism (RFLP) and compared with that of 87 healthy controls. Results: There was a significant difference in the distribution of VDR Taq I genotypes between OSCC patients and healthy controls. Patients with the VDR Tt genotype were found to be at significantly higher risk for OSCC than those with other genotypes (p . . .=0.036). In particular, female OSCC patients were at higher risk ( Daha fazlası Daha az

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

Atasoy, H. | Güleç-Yilmaz, S. | Ergen, A. | Görmüş, U. | Küçükhüseyin, Ö. | Dalan, B. | İşbir, Turgay

Article | 2015 | In Vivo29 ( 1 ) , pp.51 - 54

Background/Aim: Reactive oxygen species (ROS) are involved in the development of certain neuropsychiatric disorders. Paraoxonase 1 (PON1) activity has been suggested to be adversely related to oxidative stress in plasma. The purpose of the present study was to demonstrate the relationship between serum PON1 activity and PON1 192 polymorphism in panic disorder (PD). Materials and Methods: Fourty-two patients with PD and 46 healthy controls were included in this study. PON1 192 genotypes were determined by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis. PON1 activity was measured by spectrophot . . .ometric assay of p-nitrophenol production following the addition of paraoxon. Results: PON1 192 AA genotype and A allele in PD were significantly higher than in the control group, whereas the B allele was found to be significantly higher in the control group. Patients with panic disorder have lower PON1 activity than the control group. Conclusion: The PON1 192 AA genotype may increase the risk of PD depending on lipid peroxidation Daha fazlası Daha az

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

Rukset, A. | Bedia, A. | Sibel, B.K. | Canan, C. | Seyma, S. | Leman, M.Y. | Turgay, I.

Article | 2010 | In Vivo24 ( 2 ) , pp.243 - 248

Chemokines and their receptors play diverse roles in malignant tumor progression, particularly as key mediators of tumor stroma interactions. C-C motif chemokine ligand 2 (CCL2) also called monocyte chemoattractant protein-1 (MCP-1), belongs to the C-C motif chemokine sub-family and is currently believed to mediate its actions through one receptor, C-C motif chemokine receptor 2 (CCR2). CCL2 has been identified as a major chemokine inducing the recruitment of macrophages in human tumors, including those of the bladder, cervix, ovary, lung and breast. In this study of Turkish women, the association of CCL2 A2518G and CCR2 V64I polymo . . .rphisms with endometrial cancer was investigated using 50 endometrial cancer patients and 211 controls. In our study, individuals with CCL2 A2518G GG genotype showed a 6.7-fold increased risk for endometrial cancer ( Daha fazlası Daha az

Ceylaner, G. | Ceylaner, S. | Ustunkan, F. | Inan, M.

Article | 2008 | Acta Orthopaedica et Traumatologica Turcica42 ( 4 ) , pp.289 - 291

The effect of genetic factors on hip dislocation, acetabular dysplasia, and developmental dysplasia of the hip (DDH) has long been recognized. In this report, we presented a large family that showed single gene inheritance for DDH. Pedigree analysis of a pregnant woman revealed a history of DDH in 16 members of the family. Although the pedigree showed autosomal dominant inheritance with reduced penetrance, the prevalence of DDH was considerably high, almost accounting for one-third of the family members, and skipping only one generation. Of 16 cases, three patients were diagnosed at our center. The remaining 13 patients were diagnos . . .ed at other centers. Dislocation was diagnosed very late in most of the family members, while four cases were diagnosed at birth. All family members were informed by a detailed clinical letter and recommended evaluation for DDH at every birth. © 2007 Türk Ortopedi ve Travmatoloji Dernegi Daha fazlası Daha az

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

Dundar, N.O. | Aktekin, B. | Ekinci, N.C. | Sahinturk, D. | Yavuzer, U. | Yegin, O. | Haspolat, S.

Article | 2013 | Neurology International5 ( 3 ) , pp.58 - 61

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a common medically intractable epilepsy syndrome. Although pathogenesis of HS still remains highly controversial, genetics may play a role as a predisposing factor. Previous evidence in a Japanese population revealed that the homozygotes for allele T at position -511 of the interleukin (IL)-1ß gene promoter region (IL- 1ß-511 T/T) confers susceptibility to the development of HS. However, whether this polymorphism has an effect on IL-1ß levels in MTLEHS patients was not demonstrated. This study aimed to analyze the distribution of this particular polymorphism in a . . .group of Turkish HS patients and correlate the polymorphism with IL-1ß secretion from the lymphocytes, thus revealing a functional role for IL-1ß in the etiopathogenesis of HS. A single base pair polymorphism at position -511 in the promoter region of the IL-1ß gene was analyzed. The spontaneous and 1 ng/mL lipopolysaccharidestimulated production of IL-1ß by peripheral blood mononuclear cells after 4 and 24 h of incubation were measured by ELISA method. The heterozygous type (-511 C/T) was the most common genotype. There was no difference in frequency of allele -511 T between patients and controls. Analysis of IL-1ß levels, genotype and allele distributions showed no significant difference among the groups (P>0.05). Nevertheless, it was seen that patients who carry a T allele at position -511 of the IL-1ß gene had increased IL-1ß levels. Tallele carriage may be important. Only IL-1ß secretion from the lymphocytes has been assessed in this study. Considering the importance of IL-1ß in the etiopathogenesis of HS, further studies are needed to evaluate locally produced IL-1ß levels. © N.O. Dundar et al., 2013 Licensee PAGEPress, Italy Daha fazlası Daha az

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

Güven, M. | Görgün, E. | Ünal, M. | Yenerel, M. | Batar, B. | Küçümen, B. | Yüksel, A.

Article | 2011 | Ophthalmic Research46 ( 1 ) , pp.31 - 37

Purpose: To determine the possible effects of glutathione S-transferase (GST) M1, GSTT1 and GSTP1 genetic polymorphisms on the risk of developing age-related macular degeneration (AMD). Patients and Methods: This case-control study included a total of 120 patients with AMD (65 with dry-type AMD and 55 with wet-type AMD) and 198 disease-free controls. GSTM1 and GSTT1 polymorphisms were analyzed by using a multiplex polymerase chain reaction (PCR), and GSTP1 polymorphism was detected by real-time PCR assay. Results:GSTM1-null genotype was significantly associated with the development of AMD (p = 0.01, OR = 1.82, 95% CI = 1.14-2.91). S . . .tratification by AMD subtypes revealed a significant relationship between GSTM1-null genotype and dry-type AMD (p = 0.02, OR = 1.98, 95% CI = 1.10-3.53). In a stepwise regression model, only GSTM1-null genotype was significantly associated with the development of AMD (p = 0.01, OR = 1.77, 95% CI = 1.11-2.81). Conclusions: Our findings suggest that genetic polymorphisms of GST may have a role in the development of AMD. Copyright © 2011 S. Karger AG Daha fazlası Daha az