Person: GÜNEY, AHMET İLTER
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GÜNEY
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AHMET İLTER
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Publication Open Access Effects of MC4R, FTO, and NMB Gene Variants to Obesity, Physical Activity, and Eating Behavior Phenotypes(WILEY, 2016-10) GÜNEY, AHMET İLTER; Kirac, Deniz; Cakir, Ozgur Kasimay; Avcilar, Tuba; Deyneli, Oguzhan; Kurtel, Hizir; Yazici, Dilek; Kaspar, Elif Cigdem; Celik, Nurgul; Guney, Ahmet IlterObesity is a major contributory factor of morbidity and mortality. It has been suggested that biological systems may be involved in the tendency to be and to remain physically inactive also behaviors such as food and beverage preferences and nutrient intake may at least partially genetically determined. Consequently, besides environment, genetic factors may also contribute to the level of physical activity and eating behaviors thus effect obesity. Therefore the aim of this study is to investigate the effect of various gene mutations on obesity, physical activity levels and eating behavior phenotypes. One hundred patients and 100 controls were enrolled to the study. Physical activity levels were measured with an actical acceloremeter device. Eating behaviors were evaluated using Three-Factor Eating questionnaire (TFEQ). Associations between eating behavior scores and physical characteristics were also evaluated. The information about other obesity risk factors were also collected. Mutations were investigated with PCR, direct sequencing and Real-Time PCR. rs1051168, rs8050146-2778C>T mutations were found statistically significant in patients, rs1121980 was found statistically significant in controls. 21 mutations were found in MC4R and near MC4R of which 18 of them are novel and 8 of them cause amino acid change. In addition, it was found that, some obesity related factors and questions of TFEQ are associated with various investigated gene mutations. Any relation between gene mutations and physical activity levels were not detected. It is thought that, due to the genotype data and eating behaviors, it may be possible to recommend patients for proper eating patterns to prevent obesity. (C) 2016 IUBMB Life, 68(10):806-816, 2016Publication Metadata only New candidate chromosomal regions for chordoma development(ELSEVIER SCIENCE INC, 2007) GÜNEY, AHMET İLTER; Bayrakli, Fatih; Guney, Ilter; Kilic, Turker; Ozek, Memet; Pamir, Mustafa NecmettinBackground: Chordomas are rare, slow growing, infiltrative tumors thought to arise from vestigial or ectopic notochord. Chordoma can occur along the axial skeleton, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. Although most chordomas are sporadic, familial cases have also been reported. The most common molecular cytogenetic abnormalities in these tumors are monosomy of chromosome I and gain of chromosome 7. In addition, a variety of other chromosomal changes, which are associated with losses and gains of different chromosomes, have also been described in chordomas, such as 1q, 2p, 3p, 5q, 9p, 10, l2q, 13q, 17, and 20q. Methods: In this study, using molecular cytogenetics (iFISH), we have studied 1p36, 1q25, 3p13p14, 7q33, 17p13.1 (p53 gene locus), 2p13 (TGF-alpha locus), 6p12 (VEGF locus), and 4q26-q27 (bFGF/FGF2 locus) loci in chordoma tissues from seven patients with 7 primary tumors and 11 recurrences. Results: We found that chromosomes 1p36, 1q25, 2p13, and 7q33 are affected in primary chordomas, and these aberrations persist in recurrences. However, the chromosome 6p12 aberration was seen only in primary chordomas, but not in recurrences, indicating that this locus may be associated with chordoma genesis. Conclusions: Our descriptive data from interphase FISH analyses suggest that future studies should incorporate a larger number of patients and should focus on identifying the candidate genes in chordoma pathogenesis. Such studies may use a whole-genomic approach, in addition to the regions identified in this study and others. (C) 2007 Elsevier Inc. All rights reserved.Publication Open Access Investigation of the association between mitochondrial DNA and p53 gene mutations in transitional cell carcinoma of the bladder(SPANDIDOS PUBL LTD, 2016-10) GÜNEY, AHMET İLTER; Avcilar, Tuba; Kirac, Deniz; Ergec, Deniz; Koc, Gulsah; Ulucan, Korkut; Kaya, Zehra; Kaspar, Elif Cigdem; Turkeri, Levent; Guney, Ahmet IlterBladder carcinoma is the most common malignancy of the urinary tract. The major aim of the present study is to investigate the association between mitochondrial DNA (mtDNA) and p53 gene mutations in bladder carcinoma. A total of 30 patients with transitional cell carcinoma and 27 controls were recruited for the study. Bladder cancer tissues were obtained by radical cystectomy or transurethral resection. Genomic DNA was extracted from peripheral blood. mtDNA and p53 genes were amplified by polymerase chain reaction and sequenced directly. A total of 37 polymorphisms were identified, among which, 2 mutations were significant in the patient group, and 1 mutation was significant in the control group. Additionally, 5 different moderate positive correlations between mtDNA mutations and 3 different positive correlations between p53 gene and mtDNA mutations were detected. The high incidence of mtDNA and p53 gene mutations in bladder cancer suggests that these genes could be important in carcinogenesis.Publication Open Access Autosomal recessive idiopathic epilepsy in an inbred family from Turkey: Identification of a putative locus on chromosome 9q32-33(WILEY, 2004-05) GÜNEY, AHMET İLTER; Baykan, B; Madia, F; Bebek, N; Gianotti, S; Guney, AI; Cine, N; Bianchi, A; Gokyigit, A; Zara, FPurpose: The study describes the clinical features of an inbred family from Turkey with three members affected by seizures and tests possible autosomal recessive (AR) inheritance by means of linkage analysis. Methods: Personal and family history was obtained from each subject, and general physical, neurologic, and EEG examinations were performed. A set of 382 fluorescence-labeled markers was used for the initial genome-wide search. A further set of 83 markers was used to map the locus precisely and to exclude the remaining genome. Results: Twelve individuals from three generations were examined. Two subjects were affected by idiopathic epilepsy, whereas, their brother experienced a single unprovoked generalized seizure. Two siblings affected by idiopathic epilepsy and their unaffected sister showed a photoparoxysmal response to photic stimulation. Nine family members reported migraine. The genome-wide search led to the identification of a unique homozygous, 15.1-cM region shared by subjects with seizures on chromosome 9q32-33 and providing a lod score of 2.9. This locus, however, was not associated with migraine in this pedigree. Conclusions: The study suggests that idiopathic epileptic traits with AR inheritance might be underestimated in the general population and that inbred pedigrees may represent powerful tools for the identification of AR genes.Publication Open Access PRELIMINARY FINDINGS OF alpha-ACTININ-3 GENE DISTRIBUTION IN ELITE TURKISH WIND SURFERS(MACEDONIAN ACAD SCIENCES ARTS, 2013-06-01) GÜNEY, AHMET İLTER; Ulucan, K.; Gole, S.; Altindas, N.; Guney, A., IA common polymorphism in the alpha-actinin-3 (ACTN3 R577X) gene represents one of the most widely examined variations in terms of performance and genetic predisposition to certain sports. The aim of the present study was to examine the ACTN3 R577X polymorphism in elite Turkish wind surfers. The genotyping procedure was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Five male and three female wind surfers, eight elite wind surfers in total, were enrolled in the study. Five of the surfers had RX, two had XX and one had RR genotypes. Previous findings indicated that the X allele was the endurance allele. Our findings were in agreement with the previous reports. Seven of our subjects had at least one copy of the X allele that was considered to have a tendency to prolong endurance. Our preliminary results must be supported with further studies in greater numbers of subjects to clarify the effect of gene polymorphism.Publication Open Access Transforming growth factor-beta 3 intron 5 polymorphism as a screening marker for non-syndromic cleft lip with or without cleft palate(SPANDIDOS PUBL LTD, 2012-12) GÜNEY, AHMET İLTER; Ulucan, Korkut; Bayraktar, Nazli; Parmaksiz, Emine; Akcay, Arzu; Guney, Ahmet IlterIn this study, we evaluated the effect of transforming growth factor beta 3 intron 5 position +104 A -> G (TGF-beta 3 IVS5+104AG) transition in patients with a non-syndromic cleft lip with or without cleft palate (NSCL/P). A total of 68 patients and 114 controls were recruited for the study. A genotyping procedure was carried out using the PCR-RFLP method. For statistical analysis, the Chi-square test was used to compare data between the patient and control groups. The frequencies of the AA, AG and GG genotypes were 24, 29 and 47%, respectively, for the patients and 54, 36 and 10%, respectively, for the control group. The GG genotype and G allele were significantly different in the patient group compared with the control (p=0.0001). We conclude that SfaN1 polymorphism in TGF-beta 3 may be a good screening marker for the prediction of NSCL/P in patients. However, more studies with extended sample numbers should be carried out to clarify the effect of the examined gene region on NSCL/P.Publication Open Access Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects(WILEY, 2019-02) GÜNEY, AHMET İLTER; Koc, Gulsah; Ozdemir, Abdullah A.; Girgin, Gozde; Akbal, Cem; Kirac, Deniz; Avcilar, Tuba; Guney, Ahmet I.Objectives To detect autosomal genetic defects and to determine candidate genes in Sertoli cell-only syndrome infertile men. Methods Single-nucleotide polymorphism + comparative genomic hybridization microarray technology was carried out on 39 Sertoli cell-only syndrome infertile patients in the present study. Array comparative genomic hybridization compares the patient's genome against a reference genome, and identifies uncover deletions, amplifications and loss of heterozygosity. Results A link between defective spermatogenesis genes and infertility was examined, and amplifications and deletions in several genes were detected, including homeobox gene; synaptonemal complex element protein 1; collagen, type I, alpha 1; imprinted maternally expressed transcript; and potassium voltage-gated channel subfamily Q member 1. Conclusions The present data suggest that several genes can play an important role in spermatogenesis and progression of Sertoli cell-only syndrome.Publication Open Access Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth(C M B ASSOC, 2016-11-30) GÜNEY, AHMET İLTER; Kirac, D.; Eraydin, F.; Avcilar, T.; Ulucan, K.; Ozdemir, F.; Guney, A. I.; Kaspar, E. C.; Keshi, E.; Isbir, T.Tooth agenesis, affecting up to 20% of human population, is one of the most common congenital disorder. The most frequent form of tooth agenesis is known as hypodontia, which is characterized by the absence of one to five permanent teeth excluding third molars. It was considered that hypodontia is especially related with gene mutations which play role in tooth formation. Additionally mutations in PAX9 and/or MSX1 have been identified as the defects responsible for missing permanent molars and second premolars. In some studies it was also found that PAX9 and MSX1 gene mutations may change tooth size. Therefore in this study all of these factors were investigated. Thirty one patients and 30 controls were enrolled to the study. Information about tooth sizes and type of congenitally missing teeth were collected. MSX1 and PAX9 gene mutations were investigated by direct sequencing. Results were evaluated statistically. As a result, 22 variations were detected in PAX9 in which 18 of them are novel. In addition, 7 variations were found in MSX1 in which 5 of them are novel and one of them lead to amino acid change. Statistically significant relations were found between detected variations and tooth sizes. Any relation between mutations and type of congenitally missing teeth were not detected. In conclusion, especially new mutations which may cause hypodontia, effect tooth size and type of congenitally missing teeth, should be investigated with other researchers for clarifying the mechanism.Publication Metadata only The effect of polymorphic metabolism enzymes on serum phenytoin level(SPRINGER-VERLAG ITALIA SRL, 2015) GÜNEY, AHMET İLTER; Ozkaynakci, Aydan; Gulcebi, Medine Idrizoglu; Ergec, Deniz; Ulucan, Korkut; Uzan, Mustafa; Ozkara, Cigdem; Guney, Ilter; Onat, Filiz YilmazPhenytoin has a widespread use in epilepsy treatment and is mainly metabolized by hepatic cytochrome P450 enzymes (CYP). We have investigated CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*3 allelic variants in a Turkish population of patients on phenytoin therapy. Patients on phenytoin therapy (n = 102) for the prevention of epileptic seizures were included. Polymorphic alleles were analyzed by restriction fragment length polymorphism method. Serum concentrations of phenytoin were measured by fluorescence polarization immune assay method. The most frequent genotype was detected for CYP2C9 wild-type alleles (78.43 %), whereas CYP2C19*2/*2 (5.88 %) was the least frequent genotype group. According to the classification made with both enzyme polymorphisms, CYP2C9*1/*1-CYP2C19*1/*1 (G1: 41.17 %) genotype group was the most frequent whereas CYP2C9*1/*2-CYP2C19*1/*3 (G7: 0.98 %) was the least frequent one. The highest mean phenytoin level (27.95 +/- A 1.85 A mu g/ml) was detected in the G8 genotype group (CYP2C9*1/*3-CYP2C19*2/*3) and the G1 genotype group showed the lowest mean phenytoin level (7.43 +/- A 0.73 A mu g/ml). The mean serum concentration of phenytoin of the polymorphic patients with epilepsy was higher than that for the wild-type alleles both in the monotherapy and polytherapy patients. These results show the importance of the genetic polymorphism analysis of the main metabolizing enzyme groups of phenytoin for the dose adjustment.Publication Metadata only Detection of Mitochondrial DNA Mutations in Nonmuscle Invasive Bladder Cancer(MARY ANN LIEBERT INC, 2012) GÜNEY, AHMET İLTER; Guney, Ahmet Ilter; Ergec, Deniz Sevinc; Tavukcu, Hasan Huseyin; Koc, Gulsah; Kirac, Deniz; Ulucan, Korkut; Javadova, Dilara; Turkeri, LeventBackground: Mitochondrial DNA (mtDNA) mutations have been recently described in various tumors; however, data focusing on bladder cancer are scarce. To understand the significance of mtDNA mutations in bladder cancer development, we investigated the mtDNA alterations in bladder cancer cases. Methods: We studied the mtDNA in 38 bladder tumors and 21 microdissected normal bladder tissue samples. Mitochondrial genes ATPase6, CytB, ND1, and D310 region were amplified by polymerase chain reaction and then sequenced. Results: We detected 40 mutations in our patient population. Our findings indicate that G8697A, G14905A, C15452A, and A15607G mutations are frequent in bladder cancers (p < 0.05). In addition, the incidence of A3480G, T4216C, T14798C, and G9055A mutations were higher in patients with bladder tumors. Conclusions: In conclusion, the high incidence of mtDNA mutations in bladder cancer suggests that mitochondria could play an important role in carcinogenesis and mtDNA could be a valuable marker for early bladder cancer diagnosis.