Psychiatric Genetics最新文献_第8页

Stimulant intolerance in children with Angelman syndrome with hyperactivity: a case series. Angelman综合征伴多动症儿童的兴奋剂不耐受：一系列病例。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-04-01 DOI: 10.1097/YPG.0000000000000307

Christopher J Keary, Robyn P Thom, Christopher J McDougle

引用次数: 2

Morphine may have a role in telomere shortening. 吗啡可能在端粒缩短中发挥作用。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-04-01 DOI: 10.1097/YPG.0000000000000311

Fatemeh Zahra Darvishi, Mostafa Saadat

{"title":"Morphine may have a role in telomere shortening.","authors":"Fatemeh Zahra Darvishi, Mostafa Saadat","doi":"10.1097/YPG.0000000000000311","DOIUrl":"10.1097/YPG.0000000000000311","url":null,"abstract":"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.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 2","pages":"87-89"},"PeriodicalIF":0.9,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39640356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Genetics of social anxiety disorder: a systematic review. 社交焦虑症的遗传学：一项系统综述。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-04-01 DOI: 10.1097/YPG.0000000000000310

Ami Baba, Stefan Kloiber, Gwyneth Zai

引用次数: 2

Genome-wide association studies-supported rs12966547 variant of the long noncoding RNA LOC105372125 is significantly associated with susceptibility to schizophrenia and bipolar disorder in Han Chinese women. 全基因组关联研究支持长非编码RNA LOC105372125的rs12966547变体与中国汉族女性精神分裂症和双相情感障碍的易感性显著相关。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-04-01 DOI: 10.1097/YPG.0000000000000312

Zhi Zhao, Lulu Zhu, Xulong Wu, Qiang Chen, Bingyi Xu, Jialei Yang, Xiaojing Guo, Li Su

{"title":"Genome-wide association studies-supported rs12966547 variant of the long noncoding RNA LOC105372125 is significantly associated with susceptibility to schizophrenia and bipolar disorder in Han Chinese women.","authors":"Zhi Zhao, Lulu Zhu, Xulong Wu, Qiang Chen, Bingyi Xu, Jialei Yang, Xiaojing Guo, Li Su","doi":"10.1097/YPG.0000000000000312","DOIUrl":"10.1097/YPG.0000000000000312","url":null,"abstract":"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.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 2","pages":"74-79"},"PeriodicalIF":0.9,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39943828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Effects of CYP2C19*17 genetic polymorphisms on plasma and saliva concentrations of diazepam in patients with alcohol withdrawal syndrome. CYP2C19*17基因多态性对酒精戒断综合征患者血浆和唾液中地西泮浓度的影响。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-04-01 DOI: 10.1097/YPG.0000000000000306

Valentin Yurievich Skryabin, Mikhail Zastrozhin, Marco Torrado, Elena Grishina, Kristina Ryzhikova, Valery Shipitsyn, Tatiana Galaktionova, Evgeny Bryun, Dmitry Sychev

{"title":"Effects of CYP2C19*17 genetic polymorphisms on plasma and saliva concentrations of diazepam in patients with alcohol withdrawal syndrome.","authors":"Valentin Yurievich Skryabin, Mikhail Zastrozhin, Marco Torrado, Elena Grishina, Kristina Ryzhikova, Valery Shipitsyn, Tatiana Galaktionova, Evgeny Bryun, Dmitry Sychev","doi":"10.1097/YPG.0000000000000306","DOIUrl":"10.1097/YPG.0000000000000306","url":null,"abstract":"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.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 2","pages":"67-73"},"PeriodicalIF":0.9,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39798521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms. 5-HTTLPR多态性对产后抑郁和创伤后症状的影响。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-02-01 DOI: 10.1097/YPG.0000000000000299

Marta Landoni, Sara Missaglia, Daniela Tavian, Chiara Ionio, Paola Di Blasio

{"title":"Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms.","authors":"Marta Landoni, Sara Missaglia, Daniela Tavian, Chiara Ionio, Paola Di Blasio","doi":"10.1097/YPG.0000000000000299","DOIUrl":"10.1097/YPG.0000000000000299","url":null,"abstract":"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.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 1","pages":"9-14"},"PeriodicalIF":0.9,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9904440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9262895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Evaluation of hsa-let-7d-5p, hsa-let-7g-5p and hsa-miR-15b-5p plasma levels in patients with Alzheimer's disease. 阿尔茨海默病患者hsa-let-7d-5p、hsa-let-7g-5p和hsa-miR-15b-5p血浆水平的评估

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-02-01 DOI: 10.1097/YPG.0000000000000303

Elham Poursaei, Mahsa Abolghasemi, Soghra Bornehdeli, Dariush Shanehbandi, Milad Asadi, Mahsa Sadeghzadeh, Dara Rahmanpour, Reza Naghdi Sadeh

{"title":"Evaluation of hsa-let-7d-5p, hsa-let-7g-5p and hsa-miR-15b-5p plasma levels in patients with Alzheimer's disease.","authors":"Elham Poursaei, Mahsa Abolghasemi, Soghra Bornehdeli, Dariush Shanehbandi, Milad Asadi, Mahsa Sadeghzadeh, Dara Rahmanpour, Reza Naghdi Sadeh","doi":"10.1097/YPG.0000000000000303","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000303","url":null,"abstract":"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.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 1","pages":"25-29"},"PeriodicalIF":0.9,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10655282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

Telomere length and telomerase activity of leukocytes as biomarkers of selective serotonin reuptake inhibitor responses in patients with major depressive disorder. 白细胞端粒长度和端粒酶活性作为重性抑郁症患者选择性血清素再摄取抑制剂反应的生物标志物。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-02-01 DOI: 10.1097/YPG.0000000000000305

Raiany S da Silva, Leopoldo S de Moraes, Carlos A M da Rocha, Hygor Ferreira-Fernandes, France K N Yoshioka, Juan A Rey, Giovanny R Pinto, Rommel R Burbano

引用次数: 3

Co-existing bipolar disease and 17q12 deletion: a rare case report. 共存双相情感障碍和17q12缺失:罕见病例报告

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-02-01 DOI: 10.1097/YPG.0000000000000302

Ersel Bulu, Aysel Kalayci Yigin, Deniz Agirbasli, Omer Faruk Demirel, Cana Aksoy Poyraz, Mehmet Seven

{"title":"Co-existing bipolar disease and 17q12 deletion: a rare case report.","authors":"Ersel Bulu, Aysel Kalayci Yigin, Deniz Agirbasli, Omer Faruk Demirel, Cana Aksoy Poyraz, Mehmet Seven","doi":"10.1097/YPG.0000000000000302","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000302","url":null,"abstract":"Background: 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1.6-Mb deletion in the 17q11.2-17q12 chromosome region.Materials and methods: Physical examination of the case was performed. Karyotype and microarray analyses were performed for the case and the parents.Results: Physical examination revealed mild dysmorphic features such as high and forehead, full cheeks, slightly depressed nasal bridge and arched eyebrow. Chromosomal analysis of the patient revealed 46, XX, del(17)(q12) karyotype, and parents' karyotype were normal. In the microarray analysis of patient, 1.6 megabases deletion was detected in the 17q12 region [arr(hg19) 17q12 (34,611,352-36,248,918) ×1]. The microarray analysis of the mother was normal. The father's microarray showed 473 kilobases duplication in the 11p11.12 region.Conclusion: Although 17q12 deletion syndrome has been associated with bipolar disorder, very few such cases have been described in the literature. Genetic counseling should be considered in patients with remarkable phenotype, complex symptomatology, neurodevelopmental disorder and additional conspicuous medical conditions.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 1","pages":"30-33"},"PeriodicalIF":0.9,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10660716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

A scoping review and comparison of approaches for measuring genetic heterogeneity in psychiatric disorders. 精神疾病遗传异质性测量方法的范围回顾和比较。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-02-01 DOI: 10.1097/YPG.0000000000000304

Harvey Wang, Martin Alda, Thomas Trappenberg, Abraham Nunes

{"title":"A scoping review and comparison of approaches for measuring genetic heterogeneity in psychiatric disorders.","authors":"Harvey Wang, Martin Alda, Thomas Trappenberg, Abraham Nunes","doi":"10.1097/YPG.0000000000000304","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000304","url":null,"abstract":"An improved understanding of genetic etiological heterogeneity in a psychiatric condition may help us (a) isolate a neurophysiological 'final common pathway' by identifying its upstream genetic origins and (b) facilitate characterization of the condition's phenotypic variation. This review aims to identify existing genetic heterogeneity measurements in the psychiatric literature and provides a conceptual review of their mechanisms, limitations, and assumptions. The Scopus database was searched for studies that quantified genetic heterogeneity or correlation of psychiatric phenotypes with human genetic data. Ninety studies were included. Eighty-seven reports quantified genetic correlation, five applied genomic structural equation modelling, three evaluated departure from the Hardy-Weinberg equilibrium at one or more loci, and two applied a novel approach known as MiXeR. We found no study that rigorously measured genetic etiological heterogeneity across a large number of markers. Developing such approaches may help better characterize the biological diversity of psychopathology.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 1","pages":"1-8"},"PeriodicalIF":0.9,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10652636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1