Psychiatric Genetics最新文献

Dementia-related continuing education opportunities are important for rural primary health care (PHC) professionals given scarce specialized resources. This report explores the initial perceptions and continuing education needs of rural interprofessional memory clinic team members and other PHC professionals related to a short series of dementia-related education webinars. Three webinars on separate topics were delivered over an 8-month period in 2020 in Saskatchewan, Canada. The research design involved analysis of webinar comments and post-webinar survey data. Sixty-eight individuals participated in at least one webinar, and 46 surveys were completed. Rural memory clinic team members accounted for a minority of webinar participants and a majority of survey respondents. Initial perceptions were positive, with webinar topics and interactivity identified as the most effective aspects. Continuing education needs were mainly aligned with professional roles; however, some overlap of interests occurred. Future webinars will further explore learning needs within an interprofessional environment.

The purpose of this study was to examine the relations among discrimination, depression, and health among a sample of diverse Latinx immigrants. A secondary aim was to examine whether direct and indirect effects among these variables were moderated by social support. A sample of 204 Latinx immigrants completed questionnaires in community centers, health clinics, and retail establishments. Depression was found to mediate the effect of discrimination on physical health. Social support was found to moderate this indirect effect, wherein higher levels of social support weakened the effect. Results from this study indicate that through depression, health can be impacted by minority stressors, and these relationships can be buffered by links to cultural strengths including social support.

Objectives: Angelman syndrome is a neurogenetic disorder resulting from the loss of expression of the ubiquitin-protein ligase E3A gene on chromosome 15. Problematic behaviors including attention-deficit/hyperactivity disorder (ADHD) symptoms of hyperactivity, impulsivity and inattention are highly prevalent in Angelman syndrome. The efficacy, safety and tolerability of stimulant medications in children with Angelman syndrome for the treatment of ADHD symptoms have not been previously reported.

Methods: We describe three boys with Angelman syndrome who were treated with open-label stimulant medications for ADHD symptoms.

Results: Stimulant medications were highly intolerable, and treatment had to be discontinued after limited dosing in all three cases due to marked increases in hyperactivity and impulsivity along with worsened distractibility.

Conclusion: The findings of this study suggest that stimulant medications may be ineffective and poorly tolerated in children with Angelman syndrome.

Morphine/heroin may increase oxidative stress in drug-dependent persons. The imbalance between oxidative stress and antioxidant defense mechanisms can accelerate the shortening of telomere length. This article reports two sets of data; comparison of relative telomere length between heroin-dependent patients and healthy control group, as well as, investigation of the effect of morphine on the relative telomere length of human SH-SY5Y cells treated by morphine. Study participants were composed of 163 heroin-dependent patients and 166 unrelated healthy controls. SH-SY5Y cells were treated with (5 μM) morphine hydrochloride and incubated for 40 and 60 days. The relative telomere length was calculated as the T/S (telomere/single-copy gene) ratio using 36B4 as a reference for each sample, using quantitative real-time PCR. The mean (± SE) value of relative telomere length was 4.81 ± 0.21 and 6.38 ± 0.23 in leukocytes of heroin-dependent and control groups, respectively. The telomere length was significantly decreased in heroin-dependent participants (t = 4.97; df = 327; P < 0.0001). The relative telomere length in cells treated with morphine for 60 days was 4.50 ± 0.14 and in untreated cells was 5.75 ± 0.08. The difference was highly significant (t  =  7.68; df = 4; P = 0.002). Our present findings indicate that morphine and dependency on heroin are significantly associated with shorter telomeres. The present findings may help to explain some of the adverse effects of drug dependency on health such as accelerating biologic processes related to aging.

Social anxiety disorder (SAD) is a common psychiatric disorder, often associated with avoidant temperament. Research studies have implicated a strong genetic architecture of SAD. We have conducted a systematic review on the genetics of SAD and yielded 66 articles. In general, prior research studies have focused on the serotonin transporter, oxytocin receptor, brain-derived neurotrophic factor and catechol-O-methyltransferase genes. Mixed and inconsistent results have been reported. Additional approaches and phenotypes have also been investigated, including pharmacogenetics of treatment response, imaging genetics and gene-environment interactions. Future directions warrant further international collaborative efforts, deep-phenotyping of clinical characteristics including consistent and reliable measurement-based symptom severity, and larger sample sizes to ensure sufficient power for stratification due to the heterogeneity of this chronic and often debilitating condition.

Objective: Genome-wide association studies have found that rs12966547 polymorphism was associated with susceptibility to schizophrenia in European populations. Recent studies showed that a genetic overlap may exist in schizophrenia and bipolar disorder. Here, we analyzed the associations between LOC105372125 rs12966547 polymorphism and schizophrenia and bipolar disorder in the Han Chinese population.

Methods: Our study recruited 548 schizophrenia patients, 512 bipolar disorder patients, and 598 healthy controls. Genotyping of rs12966547 were performed using the Sequenom MassARRAY platform.

Results: A significant association between rs12966547 polymorphism and susceptibility to bipolar disorder was observed after adjusting for sex and age (additive model: Padj = 0.040, recessive model: Padj = 0.044). However, no significant association was found between rs12966547 polymorphism and schizophrenia risk (all P > 0.05). In the analysis of gender, rs12966547 polymorphism was significantly associated with bipolar disorder (additive model: Padj = 0.027) and schizophrenia (dominant model: Padj = 0.039) in women. However, no significant association was found between rs12966547 polymorphism and the risk of bipolar disorder or schizophrenia in men (all Padj > 0.05).

Conclusions: Polymorphism of rs12966547 on the long noncoding RNA LOC10537215 are a shared genetic variant of schizophrenia and bipolar disorder in Han Chinese women.

Introduction: Diazepam is one of the most commonly prescribed tranquilizers for the therapy of alcohol withdrawal syndrome (AWS). However, diazepam therapy often turns out to be ineffective, and some patients experience dose-dependent adverse drug reactions. Previous studies have shown that the metabolism of diazepam involves the CYP2C19 isoenzyme, whose activity is highly dependent on polymorphism of the encoding gene.

Objective: The study aimed to investigate the effects of CYP2C19*17 genetic polymorphisms on plasma and saliva concentrations of diazepam as well as its impact on the efficacy and safety rates of therapy in patients with AWS.

Material and methods: The study was conducted on 100 Russian male patients suffering from the AWS who received diazepam injections at a dosage of 30.0 mg/day for 5 days. Genotyping was performed by real-time PCR with allele-specific hybridization. The efficacy and safety assessment was performed using psychometric scales.

Results: Based on the results of the study, we revealed differences in the efficacy and safety of therapy in patients with different CYP2C19 -806C>T genotypes. Therapeutic drug monitoring revealed the statistically significant difference in the levels of diazepam plasma concentration: (CC) 251.76 (214.43; 310.61) vs. (CT+TT) 89.74 (54.18; 179.13); P = 0.003, and diazepam saliva concentration: (CC) 3.86 (3.22; 5.12) vs. (CT+TT) 0.79 (0.44; 1.56); P = 0.003.

Conclusion: Our study showed the effects of CYP2C19*17 genetic polymorphisms on the efficacy and safety rates of diazepam. Furthermore, we revealed the statistically significant differences in plasma and saliva concentration levels of diazepam in patients carrying different genotypes.

Introduction: Postpartum depression (PPD) is a multifactor disorder caused by psychological, social, and also biological factors. 5-HTTLPR polymorphism in the promoter region of serotonin transporter gene seems to influence PPD onset. In this study, we examined the effect of 5-HTTLPR polymorphism on prenatal and postnatal symptoms of depression and posttraumatic stress in women.

Methods: A longitudinal design with three points - time 1 (32-40 weeks gestation); time 2 (2 or 3 weeks after birth), and time 3 (3 months after birth) - was made. A total of 141 women were recruited during childbirth preparation courses. At time 1, women completed the Beck Depression Inventory (BDI) and the Los Angeles Symptoms Checklist (LASC). At time 2, they fulfilled BDI and Edinburgh Postnatal Depression Scale (EDPS), LASC and the Perinatal Posttraumatic stress disorder (PTSD) Questionnaire (PPQ); midwives and nurses collected biological test tubes by blood sampling for the genetic analysis. At time 3, the women were reassessed for BDI, LASC, EDPS, and PPQs. Analysis of variance and moderation analysis were used to correlate genotype and psychological investigations.

Results: Results showed that, compared with LL/LS genotypes, SS genotype moderated cognitive depressive symptoms onset at T2 and T3. Moreover, this genotype correlated, directly or indirectly, with PTSD postpartum aspects (re-experience, avoidance, and hyperarousal).

Discussion: Findings revealed that a lower expression of serotonin transporter gene, associated with SS genotype, seems to render women more vulnerable to depressive and PTSD symptoms after childbirth.

Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder MicroRNAs (miRNAs) may be promising diagnostic biomarkers for AD. Previous evidence shows that miR-15b-5p, hsa-let7g-5p and hsa-let7d-5p might confer potential blood biomarkers for timely diagnosis of AD. Therefore, in this replication study, we aimed to investigate the serum transcript level of these miRNAs to assess for their potential as diagnostic or prognostic biomarker in AD patients.

Methods: Blood samples were obtained from 50 AD patients and 50 age- and sex-matched healthy individuals. Then, total RNA was extracted from serum samples, cDNA was synthesized, and the expression level of miRNAs was measured by the real-time PCR method.

Results: The expression level of hsa-let7d-5p (fold change = 2.14, P = 0.007) and hsa-let7g-5p (fold change = 1.94; P = 0.013) was significantly increased in the AD patients compared to control individuals. However, the difference in the transcription of miR-15b-5p between the two groups was not statistically significant (fold change = 1.08; P = 0.76). The AROC for transcript levels of hsa-let-7d-5p was 0.68 (P = 0.014; 95% CI, 0.39-0.88) and it was 0.64 for hsa-let-7g-5p (P = 0.028; 95% CI, 0.27-0.89). The cut-off value for let-7d-5p had 0.82 sensitivity and 0.34 specificity. Moreover, the cut-off value for hsa-let-7g-5p indicated a 0.79 sensitivity and 0.28 specificity.

Conclusion: Our findings suggest the potential of measuring the transcript levels of hsa-let7d-5p and hsa-let7g-5p miRNAs as a diagnostic biomarker for AD.

We analyze the leukocyte telomere length (LTL) and telomerase activity in patients with major depressive disorder (MDD) before and after treatment with selective serotonin reuptake inhibitors (SSRIs). Before treatment, there was a reduction in the LTLs and expression levels of the human telomerase reverse transcriptase (hTERT) in the patients with MDD compared with controls. However, after 24 weeks of treatment with SSRIs, there was a significant increase in the LTLs and the expression levels of hTERT, with values approaching those observed in the controls. We conclude that SSRI antidepressant therapy can directly influence the increased expression levels of hTERT in patients.