The Tumor Necrosis Factor-A -308 G/A Polymorphism and the Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand Polymorphisms, in Asthmatic Patients and Healthy Subjects

Erdal, Mehmet Emin | Ay, Özlem İzci

Asthma is a chronic inflammatory disorder of the airways in which many cells and cellular elements play a role. Like other atopic diseases, asthma is a complex disorder caused by interactions between multiple genes of small to modest effect and equally important environmental factors. The aim of this study was to determine the TNF-α -308 G/A polymorphism and the TRAIL polymorphisms, and their influence on asthma in asthmatic patients and healthy subjects. The study population consists of 51 asthmatic patients (47 female and 4 male) and 72 healthy subjects (62 female and 10 male). The mean age of the asthmatic patients and healthy controls were 45.33±14.05, and 41.88±17.41 years, respectively. The asthmatic patients and healthy controls were similar with respect to their ages and sex charac...

Paraoksonaz 1 (Pon1) geni polimorfizmlerinin mesane kanserinin gelişimi üzerine etkileri

Koç, Hatice Bige

Significance of catechol-O-methyltransferase gene polymorphism in fibromyalgia syndrome.

Erdal, Mehmet Emin | Erdal, Nurten

Fibromyalgia syndrome (FS) is associated with a neuroendocrinal disorder characterized by abnormal function of the hypothalamic-pituitary-adrenal (HPA) axis, including hyperactive adrenocorticotropic hormone (ACTH) release and adrenal hyporesponsiveness. Catechol-O-methyltransferase (COMT) enzyme inactivates catecholamines and catecholamine-containing drugs. Polymorphism in the gene encodes for the COMT enzyme. For this study, the significance of COMT polymorphism was assessed in FS. There were three polymorphisms of the COMT gene: LL, LH, and HH. The analysis of COMT polymorphism was performed using polymerase chain reaction (PCR). Sixty-one patients with FS and 61 healthy volunteers were included in the study. Although no significant difference was found between LL and LH separately, the...

The Evaluation of Genetic Profiles of UGT1A4 and UGT1A6 in the Turkish Population
Türk Popülasyonunda UGT1A4 ve UGT1A6 Genetik Profillerinin Değerlendirilmesi

UÇKUN ŞAHİNOĞULLARI, ZUHAL

Aim: Uridine diphosphate glucuronosyltransferases (UGTs) are a superfamily of conjugation phase II enzymes and is responsible for catalyzing the glucuronidation of many endobiotic or xenobiotic substrates. The present study aimed to determine allele and genotype frequencies of UGT1A4 c.142T>G, UGT1A6 c.541A>G and UGT1A6 c.19T>G polymorphisms in the healthy Turkish population and also to compare them with different population data. Material and Method: UGT1A4 c.142T>G, UGT1A6 c.541A>G and c.19T>G polymorphisms were determined in DNA samples of 114 healthy Turkish volunteers using polymerase chain reaction and restriction fragment length polymorphism methods. Results: The frequencies of variant alleles were 12.7% for UGT1A4 c.142T>G, 39.9% for UGT1A6 c.541A>G and 44.7% for UGT1A6...

Association of NRG3 and ERBB4 gene polymorphism with nicotine dependence in Turkish population

Erdal, Mehmet Emin

Background Nicotine dependence (ND) is characterized by regular smoking, anxiety, irritation, difficulty concentrating, impatience, restlessness, tremor, dizziness, hunger, nicotine demand, and the individual’s reluctance to quit despite knowing the health risks of smoking. Recently, it has been reported that the Neuregulin 3 (NRG3)/Erb-B2 receptor tyrosine kinase 4 (ERBB4) signaling pathway plays a role in ND. NRG3, which is activated after nicotine intake, binds to ERBB4 and causes GABA release. GABA reduces anxiety and tension, which are one of the nicotine withdrawal symptoms. Therefore we aimed to investigate the relationship between NRG3 and ERBB4 gene polymorphisms and ND. Materials and methods The study population was comprised of patients with ND (n = 200) and healthy non-smoker c...

Association between tryptophan hydroxylase gene polymorphism and painful non-osseous temporomandibular disorders

Erdal, Mehmet Emin

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Association between Cathechol-O-Metyltransferase polymorphism and psoriasis

Erdal, Mehmet Emin | Türsen, Ümit | Kaya, Tamer İrfan | Kanık, Emine Arzu | Eker, Ebru Derici | İkizoğlu, Güliz

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Association of GABA B R1 Receptor Gene Polymorphism with Obstructive Sleep Apnea Syndrome

Erdal, Mehmet Emin

Objective: GABABR (gamma-amino butyric acid B receptor)-mediated neurotransmission has been implicated in the pathophysiology of a variety of neuropsychiatric disorders. GABABR1 gene variants were identified by single-strand conformation analysis. The nucleotide exchanges cause a substitution of alanine to valine in exon 1a1 (Ala20Val), a substitution of glycine to serine in exon 7 (Gly489Ser) and a silent C to G nucleotide exchange encoding the amino acid phenylalanine in exon 11 (Phe658Phe). The significance of GABABR1a gene polymorphism in obstructive sleep apnea syndrome (OSAS) as well as the association of these polymorphisms with the polysomnography findings in OSAS patients are not known. In this study, we aimed to assess the significance of 3 different GABABR1 gene polymorphisms (A...

Kolorektal kanserde adiponektin (Adipoq) ve adiponektin reseptör 1 (Adipor1) genlerinin polimorfizmlerinin araştırılması

Arslan Mamur, Badel

Association of the -1438 G/A and 102 T/C Polymorphism of the 5-Ht2A Receptor Gene with Irritable Bowel Syndrome 5-Ht2A Gene Polymorphism in Irritable Bowel Syndrome

Erdal, Mehmet Emin | Yazıcı, Mustafa Kemal

Goals: The aim of this study is to investigate whether there were any association between the 102 T/C and −1438 G/A polymorphisms of the 5-HT2A receptor gene and IBS, and abdominal pain, anxiety and depression. Background: Genes involved in serotonin (5-HT) metabolism are good candidates for the pathogenesis of irritable bowel syndrome (IBS). Recently, a silent polymorphism in the 5-HT2A receptor gene was identified that is defined by a T to C transition at position 102. Also, a novel G to A base change at position −1438 of the promoter region has been detected in 5-HT2A receptor gene. Study: Fifty-four patients with IBS diagnosed according to the Rome 1 criteria and 107 healthy individuals were included in the study. PCR was used to amplify a 468-bp (G→A) and 342-bp (T→C) fragment of geno...

Association of T102C polymorphism of the 5-HT2A receptor gene with pyschiatric status in fibromyalgia syndrome.

Erdal, Mehmet Emin

Serotonin (5-HT) is a key neurotransmitter in the central nervous system. It is suggested that serotonergic dysfunction may be involved in the pathophysiology of fibromyalgia syndrome (FS). In this study, we aimed to investigate T102C polymorphism of the 5-HT2A receptor gene in FS. Fifty-eight patients with FS and 58 unrelated healthy volunteer controls were included in the study. In both groups, the C/C, C/T, and T/T genotypes of the 5-HT gene were represented in 31% (22.4% in controls), 50% (53.4%), and 19% (24.1%), respectively. The 5-HT2A receptor gene polymorphism results were not significantly different between patients and controls (chi squared test, P>0.05). There was a significant correlation between patients with the T/T genotype and the subgroup according to the SCL-90-R test, (...

Harnessing Knowledge on Very Important Pharmacogenes CYP2C9 and CYP2C19 Variation for Precision Medicine in Resource-Limited Global Conflict Zones

Barlas, İbrahim Ömer | Sezgin, Orhan

Pharmacogenomics harnesses the utility of a patient’s genome (n = 1) in decisions on which therapeutic drugs and in what amounts should be administered. Often, patients with shared ancestry present with comparable genetic profiles that predict drug response. However, populations are not static, thus, often, population mobility through migration, especially enmasse as is seen for refugees, changes the pharmacogenetic profiles of resultant populations and therefore observed responses to commonly used therapeutic drugs. For example, in the aftermath of the Syrian civil war since 2011, millions have fled their homes to neighboring countries in the Middle East. The growing permanence of refugees and mass migrations is a call to shift our focus in the life sciences community from old models of p...

Tüberküloz hastalarında sitokin gen polimorfizmi ve genetik yatkınlık

Ülger, Mahmut

Akut ve kronik lösemide katalaz C-262T ve paraoksonaz 1 L55M gen polimorfizmleri ile katalaz ve paraoksonaz aktivitelerinin değerlendirilmesi

Eras Erdoğan, Nazan

Monoamine oxidase-A gene promoter polymorphism in female migraineurs

Erdal, Mehmet Emin

Objective: To assess whether there is a relationship between monoamine oxidase-A (MAOA) gene promoter polymorphism and migraine in female patients. Study design: A polymerase chain reaction based study in which MAOA promoter polymorphism was studied in 54 female migraineurs and 52 controls. Methods: The low (3-repeat) and high (one of 3.5, 4 or 5 repeat units) activityMAOA alleles were detected. The genotypes and allele frequencies were compared both within and between the groups. Results: The representation of both low (1/ 1) and high (2/ 2) activity genotypes were similar between the female migraineurs and controls. The allele frequencies were also similar between these groups. There was no relationship between the presence or absence of aura and MAO polymorphism. Conclusion: MAOA gene p...

Catechol-O-methyltransferase gene polymorphism in schizophrenia: evidence for association between symptomatology and prognosis

Erdal, Mehmet Emin

Catechol-O-methyltransferase (COMT) gene has long been implicated to play a role in the pathogenesis of schizophrenia. The aim of this study is to assess the relationship of schizophrenia and its subgroups with COMT gene polymorphism. We have attempted to evaluate a possible correlation between the severity and prognosis of the illness (the psy- chopathology of symptoms) and COMT gene polymorphisms. The study comprised 129 unrelated subjects who strictly met DSM-IV criteria for schizophrenia, and 65 healthy unrelated controls. All subjects were of Turkish origin. A clinical evaluation of all patients was accomplished by applying the Brief Psychiatric Rating Scale (BPRS) test. The analysis of COMT polymorphism was performed using the polymerase chain reaction technique. Regarding COMT gene ...