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Copyright of Mersin Üniversitesi sağlık Bilimleri Dergisi is the property of Mersin University and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background. Polycythemia vera (PV) and essential thrombocytosis (ET) are hematological disorders characterized by excessive production of mature and functional blood cells. These cellular disorders are thought to be associated with impaired apoptosis, which is one of the major cellular death mechanisms in hematopoietic cells. Objectives. In this study, our objective was to examine the association between potential polymorphisms of the Bcl 2, Bax, Fas and Fas Ligand genes involved in apoptosis and the occurrence of PV and ET. Material and methods. A total of 93 patients diagnosed with PV (n = 38) or ET (n = 55) at the Department of Hematology were included in this study, and 93 healthy individuals served as controls. DNA isolation was performed in blood samples obtained from both groups of subjects to determine the Bcl 2, Bax, Fas, and Fas L genotypes using the real-time PCR method. Results. No statistically significant differences between controls and patients were found in terms of Fas -670 G > A (rs1800682), Fas -1377 G > A (rs2234767), Fas L IVS2 -124 A > G (rs5030772), Bax -248 G > A (rs4645878) and Bcl 2 -938 C > A (rs2279115) polymorphisms, genotypes, and allele frequency (p > 0.05). Conclusions. The results show that polymorphisms in the Bcl 2, Bax, Fas, and Fas Ligand genes involved in the apoptotic pathways may not play a role in the pathogenesis of PV and ET. [ABSTRACT FROM AUTHOR]

Objective: Alcoholism is associated with genetic variants of genes related to alcohol metabolizing enzymes, dopaminergic, gamma-aminobutyric acidergic, glutamatergic, opioid, cholinergic, and serotonergic systems. Neurpeptide Y system and Neurexins were shown to be associated with alcohol dependence. Recent studies identified new genetic polymorphisms related to endogenous cannabinoid system, neuropetide Y and neurexin. In the present study, we aimed to investigate the association of Neurpeptide Y LEU7PRO rs16139 and neurexin 3 gene rs760288 polymorphisms with alcohol dependence in patients with alcohol dependence and healthy control subjects. Methods: 123 patients who were diagnosed with alcohol dependence according to the DSM-IV criteria and 159 healthy volunteers were included in the study. Blood samples were used to investigate polymorphisms. The genotyping of the neurexin 3 gene rs760288 and the neuropetide Y gene Leu7Pro rs16139 polymorphisms was performed using TaqMan SNP Genotyping Assays Real-Time PCR System. Results: Of the 2 genetic polymorphisms investigated in the present study, we detected association between and neurexin 3 gene rs760288 polymorphisms with alcohol dependence. Conclusions: Neurexin gene polymorphisms might be an important factor in development of alcohol addiction. [ABSTRACT FROM AUTHOR]

Copyright of Archives of Neuropsychiatry / Nöropsikiyatri Arşivi is the property of Turkish Association of Neuropsychiatry and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Disturbances in the serotonergic neurotransmission system have been implicated in the etiology of attenion deficit/hyperactivity disorder (ADHD). As the importance of genetic factors is well established, genes encoding for proteins of the serotonergic pathway are important candidates to unravel the underlying genetic contribution. We previously demonstrated that the polymorphisms of the serotonin transporter gene promoter and regions of variable number of tandem repeats were involved in the pathogenesis of ADHD. The purpose of this study was to examine the relationship between ADHD and two polymorphisms (T102C and 1438 G/A) in the 5-HT2A gene in a sample of Turkish children. Using the PCR technique, these polymorphisms were assessed in 70 patients with ADHD and in 100 healthy controls. There was no significant difference between the frequencies of the T, C, G and A alleles of both groups. No association was found between the studied polymorphisms of the 5-HT2A gene and ADHD in this sample consisting of Turkish children. Overall, our results suggest that the investigated 5-HT2A polymorphisms are not major susceptibility factors in the etiology of ADHD.Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The purpose of this study was to evaluate the relationship between attention deficit hyperactivity disorder (ADHD) and polymorphism of the two regions of the 5-HTT gene [variable number of tandem repeats (VNTR) and 5-HTTLRR] in a sample of Turkish children. Using the PCR technique, these polymorphisms were assessed in 71 patients with ADHD and 128 healthy controls. The 5-HTTLPR S/S genotype was significantly lower in the patients than in the controls (p = 0.018). Homozygous and heterozygous L variant predominated in the ADHD group. But the VNTR STin2.12/12 genotype was significantly less found in the patients than in the controls (p = 0.001). There was no significant difference between the frequency of the short (S), long, 10, and 12 alleles of both groups. The lack of an S/S variant of 5-HTTLPR polymorphism of the STin2.12/12 variant of VNTR polymorphism appears to be associated with an increased risk of ADHD.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: Alcohol dependence is associated with genetic variants of alcohol-metabolizing enzymes and genes related to dopaminergic, gamma-aminobutyric acidergic, glutamatergic, opioid, cholinergic, and serotonergic systems. Genetic variations in the endogenous cannabinoid system are also involved in alcohol dependence. The present study aimed to evaluate the association between three polymorphisms, DRD2 TaqIA, 5-HT1B A-161T and CNR1 1359 G/A (rs1 049353), and alcohol dependence. Methods: One hundred twenty three patients, who were diagnosed as having alcohol dependence according to the DSM-IV criteria and 125 healthy volunteers, were included in the study. With written informed consent, a blood sample was drawn from each individual. Venous blood samples were collected in ethylenediaminetetra acetic acid (EDTA) containing tubes. DNA was extracted from whole blood by the salting out procedure. Genetic analyses were performed as described in the literature by using a Polymerase Chain Reaction method. SPSS 17.0 software was used for statistical analysis. Results: The DRD2 TaqIA polymorphism was analyzed in the study and control groups. In the study group, the A1/ A1 genotype was observed in 5 (4.0%) patients, the A1/ A2 genotype was observed in 51 (41.5%) patients and the A2/A2 genotype was observed in 67 (54.5%) patients. In the control group, the A1/A1 genotype was observed in 6 (4.8%) subjects, the A1/A2 genotype was observed in 40 (32.0%) subjects and the A2/A2 genotype was observed in 79 (62.2%) subjects. For the 5-HT1B receptor A-161T gene polymorphism, the A/A genotype was detected in 61 (49.6%) patients, the A/T genotype was detected in 53 (43.1%) and the T/T genotype was detected in 9 (7.3%) patients. In the control group, the A/A genotype was detected in 84 (67.2%) subjects, the A/T genotype was detected in 39 (31.2%) subjects, and the T/T genotype was detected only in 2 (1.6%) subjects. The G/G genotype was the most common genotype in both study and control groups for CNR1 1359 gene polymorphism. It was detected in 75 (61.0%) study patients and in 84 (67.2%) control subjects. The G/A genotype was observed in 39 (31.7%) patients of the study group and 38 (30.4%) subjects of the control group. The A/A genotype was the most rare genotype in both groups; it was detected only in 9 (7.3%) study patients and 3 (2.4%) control subjects. Of the three polymorphisms investigated, 5-HT1B A-161T was the only one found to be associated with alcohol dependence. Conclusions: The 5-HT1B receptor A-161T polymorphism might be a promising marker for alcohol dependence; however, future studies are needed to clarify these findings. [ABSTRACT FROM AUTHOR]