The relationship of the methylation status and polymorphism of glucocorticoid receptor gene (NR3C1) with attempted suicide or non-suicidal self-injury patients in schizophrenia.

We aim to investigate the methylation of NR3C1 gene promotor and NR3C1 BclI polymorphism in schizophrenia (SCZ) patients with attempted suicide or non-suicidal self-injury (NSSI). A sample of 112 patients with SCZ was included in the study. Structured Clinical Interview for Diagnostic and Statistical Manual-Fourth Edition Axis I Disorders was used to confirm the diagnosis according to The Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision criteria. The patients were evaluated by data forms that had sociodemographic, suicidal behavior, and NSSI information. Methylation-specific polymerase chain reaction (PCR) was used to identify the methylation of the NR3C1 gene. The analysis of the BclI polymorphism of the NR3C1 gene was evaluated by using the PCR restriction fragment length polymorphism. Our results revealed that although the NR3C1 gene methylation was not statistically significantly different, there was a significant difference in NR3C1 genotype distribution among the SCZ groups with and without attempted suicide. SCZ patients carrying the CC genotype had a lower risk of attempted suicide (Odds Ratio [OR]: 0.421; 95% Confidence Interval [CI]: 0.183-0.970; p = 0.040), while having the GG genotype in SCZ patients was associated with a higher risk of attempted suicide (OR: 3.785; 95% Cl: 1.107-12.945; p = 0.042). Additionally, due to NSSI in SCZ patients, there were no significant differences in NR3C1 gene methylation and NR3C1 genotype distribution among the groups. We propose that the NR3C1 BclI polymorphism may be associated with attempted suicide in Turkish patients diagnosed with SCZ.

Turkish Validity and Reliability Study of the ECT Perception and Knowledge Scale.

Introduction: Electroconvulsive Therapy (ECT) is an effective and safe treatment method used in the treatment of various psychiatric diseases. However, negative attitudes associated with ECT are common. This causes many negative consequences, from the treatment preference to treatment response and stigma. In this study, we aimed to carry out a validity-reliability analysis of the ECT Perception and Knowledge Scale (ECT-PK), which was developed to determine the perception and knowledge levels related to ECT, and adapt it to Turkish. Method: The Turkish adaptation of the ECT-PK was made using the translation-retranslation method. Our study included 50 patients with schizophrenia, 50 patients with bipolar disorder, 50 patients with major depression who met the remission criteria determined separately for each disorder, and 150 healthy controls.. To measure test-retest reliability, the scale was re-applied to 30 patients randomly selected from the patient group 14-21 days after the first application of the scale. Results: In our study, a significant difference was found in both the patient and control groups in terms of the history of ECT application in the past and the status of accepting ECT application when recommended, and the perception and knowledge subscales of the ECT-PK. These results support the construct and criterion validity of the ECT-PK. Cronbach's alpha coefficient was found to be 0.85 for the perception subscale and 0.78 for the knowledge subscale. The intra-class correlation coefficient used to evaluate the test-retest reliability was 0.86 for the perception scale and 0.83 for the knowledge subscale. Conclusion: It has been shown that the ECT-PK is a valid and reliable measurement tool that can be used to measure the perception and knowledge levels related to ECT in both clinical and non-clinical groups.

COMTVal158Met polymorphism is associated with ecstasy (MDMA)-induced psychotic symptoms in the Turkish population.

OBJECTIVES: To investigate catechol-O-methyltransferase (COMT) Val158Met gene polymorphism in MDMA use disorder (MUD) by comparing genotype distributions between MUD patients and healthy controls considering clinical parameters. METHODS: Eighty-two MUD patients' were consecutively admitted to the outpatient psychiatry clinic in May 2019-January 2020, and 95 healthy volunteers were included in the case-control study. We used the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) to determine COMT Val158Met polymorphism. RESULTS: The COMT Val158Met genotype distribution and allele frequencies of the MUD patient group were significantly different from the healthy control group. The Met/Met genotype (OR: 2.692; 95% Cl: 1.272-5.698; p=0.008) and Met allele frequencies (OR: 1.716; 95% Cl: 1.118-2.633; p=0.013) were significantly higher in the control group than in MUD patients. When the COMT Val158Met genotype and allele frequency distributions were compared between 2 groups according to the psychotic symptoms in the MUD patient group, the COMT Val158Met genotype distributions were significantly different between the groups of patients. The percentage of patients with the Val/Val genotype was significantly lower in MUD patients with a psychotic symptom than the MUD patients without a psychotic symptom (OR: 2.625; 95% Cl: 1.069-6.446; p=0.033). CONCLUSION: The COMT Val158Met gene polymorphism was found to be related to the MUD-diagnosed Turkish patients and MDMA-induced psychotic symptoms.

UCP2 and CFH Gene Variants with Genetic Susceptibility to Schizophrenia in Turkish Population.

OBJECTIVE: Schizophrenia (Sch) is a complex, multifactorial psychiatric disorder. Growing evidence shows that oxidative damage and immunological dysfunction exist in the Sch physiopathology. In the present study, we aimed to evaluate whether the Uncoupling protein 2 and Complement factor H gene variants play any role in susceptibility to Sch. METHODS: This study was carried out on 200 individuals (100 Sch patients and 100 healthy controls). Genomic DNA was extracted from blood samples. UCP2-866G /A (rs659366) and CFHY402H variants were analyzed by PCR-RFLP analysis. RESULTS: The UCP2 -866G/A variant G/G genotype and G allele were associated significantly with increased risk of Sch (p=0.001, p=0.001, respectively). The subjects were carrying UCP2 -866G/A variant G/G genotype had 4.377-fold increased risk for Sch. There was no significant difference between the groups for the genotype and allele frequencies of the CFH Y402H variant (p>0.05). The observed genotype counts deviated significantly from those expected in Sch patients according to the HWE for UCP2 -866G/A variant (p=0.001). CONCLUSION: We present the first results investigating UCP2 -866G/A/ and CFH Y402H variants for susceptibility to Sch in a Turkish population. These results indicate that the UCP2 -866G/A, but not CFH Y402H variant, might play an important role in the development of Sch.

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

Abstract 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.

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

Abstract 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.

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

Abstract 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.

Executive functions and memory in autogenous and reactive subtype of obsessive-compulsive disorder patients.

There are concurrently with different results of studies about cognitive functions of Obsessive-Compulsive Disorder (OCD), impairment in non-verbal memory and executive functioning in OCD, has shown consistent results in several studies. In this study, 62 OCD patients and 40 healthy controls were participated. Firstly, cognitive functions of OCD group and healthy control group were compared in terms of scores in Stroop Test, Wisconsin Cart Sorting Test (WCST), Auditory Consonant Trigram Test (ACTT), Controlled Word Association Test (CWAT), Rey Auditory Verbal Learning Test (RAVLT), Digit Span Test (DST). And then, two patient groups of OCD patients (patients with autogenous obsessions and patients with reactive obsessions) were compared in terms of the scores of same tests, with a hypothesis that claims, cognitive functions of patients with autogenous obsessions, who shown schizotypal personality features and thought disorder in higher ratio, will show more impairment than cognitive functions of patients with reactive obsessions. Significant impairment was found in OCD patients in terms of Stroop test and WCST scores when compared to scores of healthy controls. There was no difference pointed out between cognitive functions of patients with autogenous obsessions and reactive obsessions. Due to limited number of patients with autogenous obsessions in current study, any future research with greater sample size will be helpful to explain the cognitive functions in OCD with autogenous and reactive obsessions.