Evaluation of the predisposition of serotonin transporter polymorphisms (5-HTTLPR) and complement factor H (CFH) variants to smoking status

Aim: To evaluate the susceptibility of the serotonin transporter-associated polymorphic region (5-HTTLPR) and complement factor H (CFH) gene variants to smoking status. Method: Smokers and non-smokers were included in the study. The smoking amount was assessed based on the scores on the Fagerström Test for Nicotine Dependence (FTND). DNA is extracted from blood samples. 5-HTTLPR and CFH Y402H variants were analyzed by polymerase chain reaction (PCR) and/or restriction fragment length polymorphism (RFLP) methods. The results were evaluated statistically. Results: 5-HTTLPR and CFH Y402H genotype and allele distribution did not differ significantly between smokers and non-smokers (p>0.05). There was no deviation from Hardy-Weinberg equilibrium (HWE) for these variants in the groups. Conclusion: Nicotine addiction is a complex phenomenon in which both genetic and environmental factors play a role. The identification of genes that play a role in addiction is important to elucidate the pathogenesis. The results of this study showed that 5-HTTLPR and CFH Y402H variants had no effect on nicotine addiction. However, these results need to be validated in larger sample groups and in different ethnic communities.   &nbsp

PER3 VNTR variant and susceptibility to smoking status/substance use disorder in a Turkish population

Background: Substance use and smoking exert devastating impact on sleep, especially hindering the ease of falling asleep, compromising the sleep maintenance, and distorting the sleep cycles. PERIOD genes are believed to play a role in individual differences in sleep timing by influencing circadian. Objective: The aim of this study was to ascertain whether Per3 VNTR variant affects suspectibility of individuals to substance use disorder (SUD) and smoking status in a Turkish population. Methods: A total of 549 subjects, including 212 SUD patients, 160 smoker, and 177 healthy controls, matched by ethnicity, age, and gender, were recruited in a case-control study. Genotyping of Per3 variant was performed using PCR method. Results: When the SUD, smoker groups and controls were compared in terms of 5R/5R, 5R/4R, 4R/4R genotypes, no significant difference was observed. Besides, allele frequencies of Per3 VNTR were similar among the groups. Discussion: Our data indicate that Per3 VNTR variant is not associated with the risk of SUD and smoking status in our population

XRCC4 rs6869366 polymorphism is associated with susceptibility to both nicotine dependence and/or schizophrenia

Background: Oxidative stress induced DNA damage has been assumed to contribute to the etiopathogenesis of schizophrenia (Sch). Smoking prevalence was more common in patients with Sch. The X-ray repair cross-complementation group 4 (XRCC4) gene plays an important role in the repair of DNA double-strand breaks. Objective: The purpose of this study was to investigate whether XRCC4 rs6869366 polymorphism has a relationship both in nicotine dependence (ND) and Sch+ND risk. Methods: One hundred and four patients with Sch+ND, 133 subjects with ND only and 70 healthy controls were enrolled in the study. XRCC4 rs6869366 polymorphism was analyzed using PCR-RFLP assay. Results: The frequency of XRCC4 rs6869366 GG genotype was more common in the ND and Sch+ND group than controls (p = 0.001 and p = 0.001, respectively). XRCC4 rs6869366 TT genotype was lower in both ND and Sch+ND group compared to controls (p = 0.001 and p = 0.001, respectively). Also, XRCC4 rs6869366 G allele was higher in Sch+ND group than controls (p = 0.001) while XRCC4 rs6869366 T allele was lower in ND group than healthy controls (p=0.001). XRCC4 rs6869366 GT genotype was lower in ND group than control group (p = 0.003). Discussion: These results suggested that the XRCC4 rs6869366 polymorphism G related genotype/allele was associated with susceptibility to both ND and Sch+ND in a Turkish population

Elevated Red Blood Cell Distribution Width May Be a Novel Independent Predictor of Poor Functional Outcome in Patients Treated with Mechanical Thrombectomy

Purpose Red blood cell distribution width (RDW) evaluates the variation (size heterogeneity) in red blood cells. Elevated RDW has been identified as a predictor of poor functional outcomes for acute ischemic stroke. The association between elevated RDW level and poor functional outcome in stroke patients undergoing mechanical thrombectomy has not been reported before. This study aims to investigate this relationship. Materials and Methods This was a multicenter retrospective study involving the prospectively and consecutively collected data of 205 adult stroke patients who underwent mechanical thrombectomy for anterior circulation large vessel occlusion (middle cerebral artery M1, anterior cerebral artery A1, tandem ICA-MCA, carotid T) between July 2017 and December 2019. RDW cut off levels were accepted as >16%. The effect of elevated RDW on poor functional outcome (modified Rankin scale 3–6) was investigated using bivariate and multivariate regression analysis. Results Elevated RDW was significantly associated with poor functional outcome in bivariate and multivariate analysis (odds ratio [OR] for RDW >16%, 2.078; 95% confidence interval [95% CI], 1.083–3.966; P=0.027 and OR for RDW >16%, 2.873; 95% CI, 1.342–6.151; P=0.007; respectively). Conclusion These findings suggest that elevated RDW may be an independent predictor of poor functional outcomes in ischemic stroke patients undergoing mechanical thrombectomy

Effect of monoamine oxidase B A644G variant on nicotine dependence and/or schizophrenia risk

Objectives: Schizophrenia (Sch) is a severe and chronic mental illness. Smoking prevalence is higher in patients with Sch than general population. We aimed to investigate the effects of MAOB gene A644G variant on nicotine dependence (ND) and Sch+ND risk in Turkish population and to evaluate by bioinformatic analysis. Methods: Present study included 161 individuals with ND, 223 patients with Sch+ND, and 96 non-smoker controls. MAOB A644G variant was analyzed using PCR-RFLP method. As the MAOB gene is located on the X chromosome, each gender was analysed separately. Results: The total distributions of AA, AG and GG genotypes of MAOB gene A644G were 44.7%, 22.4% and 32.9% in the ND group, 45.3%, 25.1% and 29.6% in the Sch+ND group and, 44.8, 22.9% and 32.3% in non-smoker controls. No significant differences were observed between groups for the MAOB A644G genotype and allele frequencies when female group compared to male group (p > 0.05). Examination of disease associations of SNPs from each miRNA gene region in GWAS databases yielded results for aging, bipolar disorder, autoimmune, and neurological diseases. Discussion: Our results indicate that the MAOB gene A644G variant is not associated with ND and/or Sch susceptibility in the Turkish population

Learning platform for smoking cessation project: From begining to date

Although 35% of the adults in Turkey are current smokers, the number of trained physicians and smoking cessation (SC) clinics are not enough to meet the demand. Aim: This national project aimed to create the necessary infrastructure for providing SC therapy all-around the country and to train physicians in this topic. This project was run by Turkish Thoracic Society Tobacco Working Group and supported by a grant from Pfizer Foundation. Methods: For this purpose, an organization network including field training teams was planned. The training materials were prepared and standardized. A website of the project including a wide e-learning platform was created (www.sigarabirakmadaogrenmezemini.org). Results: Firstly, a central training program was planned. Forty volunteers from all regions of Turkey were participated to this program. Afterwards, field training programs were started to perform by these trainers. From the beginning field training sessions were performed in 11 cities with more than 300 participants. The project website was visited by 10.369 visitors and 518 participants completed e-training module since April 2011. Conclusion: The SÖZ project enabled a training ground that will last for years; a professional website and a trainer staff to generalize the program. Through this project, the integration of SC intervention in all health service steps will be provided, the number of SC clinics in Turkey will increase, and in future smoking rate will reduce in our country