Psychiatric Genetics最新文献_第6页

Mediating effect of genome-wide DNA methylation on suicidal ideation induced by stressful events. 全基因组DNA甲基化对应激事件诱导的自杀意念的中介作用。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2023-02-01 DOI: 10.1097/YPG.0000000000000331

Vincenzo De Luca, Nzaar Al-Chalabi, Zanib Chaudhary, Jessica Qian, Carol Borlido, Araba Chintoh, Philip Gerretsen, Ariel Graff, Gary Remington, Marcos Sanches, Marco Battaglia

{"title":"Mediating effect of genome-wide DNA methylation on suicidal ideation induced by stressful events.","authors":"Vincenzo De Luca, Nzaar Al-Chalabi, Zanib Chaudhary, Jessica Qian, Carol Borlido, Araba Chintoh, Philip Gerretsen, Ariel Graff, Gary Remington, Marcos Sanches, Marco Battaglia","doi":"10.1097/YPG.0000000000000331","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000331","url":null,"abstract":"Objective: Schizophrenia is a debilitating disease that is associated with higher rates of death by unnatural causes including suicide. Exposure to stressful events is an important risk factor for suicidal ideation (SI); however, the mechanisms that link stress, SI, and suicide remain unclear. Epigenetic processes are involved in both vulnerability to suicidal behavior and stress. Therefore, we sought to study the relationship between epigenetic modifications and suicidal behavior and stress.Methods: This pilot study was conducted on 39 patients diagnosed with schizophrenia (54% men and age 45.5 ± 12.7). We analyzed the effects of (a) stress exposure and (b) the mediation of DNA methylation [via an epigenetic wide association study (EWAS) of more than 450 000 CpG sites across the genome] on SI severity.Results: The top CpG site mediating the effect of global stress exposure on SI was cg27660192 located in an intergenic region on chromosome 11, exerting a facilitating effect on worsening SI through DNA hypomethylation.Conclusion: These preliminary results indicate that DNA methylation in peripheral tissues can shed light on the complex relationship between stress and SI in schizophrenia.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 1","pages":"26-33"},"PeriodicalIF":0.9,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10789256","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: 0

Applications of Mendelian randomization in psychiatry: a comprehensive systematic review. 孟德尔随机化在精神病学中的应用：一项全面的系统综述。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2022-12-01 Epub Date: 2022-10-20 DOI: 10.1097/YPG.0000000000000327

Luigi F Saccaro, Simone Gasparini, Grazia Rutigliano

{"title":"Applications of Mendelian randomization in psychiatry: a comprehensive systematic review.","authors":"Luigi F Saccaro, Simone Gasparini, Grazia Rutigliano","doi":"10.1097/YPG.0000000000000327","DOIUrl":"10.1097/YPG.0000000000000327","url":null,"abstract":"Psychiatric diseases exact a heavy socioeconomic toll, and it is particularly difficult to identify their risk factors and causative mechanisms due to their multifactorial nature, the limited physiopathological insight, the many confounding factors, and the potential reverse causality between the risk factors and psychiatric diseases. These characteristics make Mendelian randomization (MR) a precious tool for studying these disorders. MR is an analytical method that employs genetic variants linked to a certain risk factor, to assess if an observational association between that risk factor and a health outcome is compatible with a causal relationship. We report the first systematic review of all existing applications and findings of MR in psychiatric disorders, aiming at facilitating the identification of risk factors that may be common to different psychiatric diseases, and paving the way to transdiagnostic MR studies in psychiatry, which are currently lacking. We searched Web of Knowledge, Scopus, and Pubmed databases (until 3 May 2022) for articles on MR in psychiatry. The protocol was preregistered in PROSPERO (CRD42021285647). We included methodological details and results from 50 articles, mainly on schizophrenia, major depression, autism spectrum disorders, and bipolar disorder. While this review shows how MR can offer unique opportunities for unraveling causal links in risk factors and etiological elements of specific psychiatric diseases and transdiagnostically, some methodological flaws in the existing literature limit reliability of results and probably underlie their heterogeneity. We highlight perspectives and recommendations for future works on MR in psychiatry.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 6","pages":"199-213"},"PeriodicalIF":1.5,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9648985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10275706","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: 0

Mendelian randomization study on the effect of tumor necrosis factor on schizophrenia. 肿瘤坏死因子对精神分裂症影响的孟德尔随机化研究。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-12-01 DOI: 10.1097/YPG.0000000000000329

Ning Ma, Renxi Wang

{"title":"Mendelian randomization study on the effect of tumor necrosis factor on schizophrenia.","authors":"Ning Ma, Renxi Wang","doi":"10.1097/YPG.0000000000000329","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000329","url":null,"abstract":"Objective: Previous observational studies have shown that the levels of tumor necrosis factor (TNF) increased in patients with schizophrenia. The present two-sample Mendelian randomization (MR) study aims to identify the causal link between TNF and schizophrenia.Methods: To date, the largest genome-wide association study (GWAS) for TNF (n = 23 141) and for schizophrenia (53 386 cases and 77 258 controls) was used. All participants were of European ancestry. The MR-egger_intercept test and Cochran's Q statistic were used to determine the pleiotropy and heterogeneity, respectively. Weighted median and inverse variance weighted (IVW) were used to evaluate the causal association of TNF with schizophrenia.Results: We found no significant pleiotropy or heterogeneity of all three selected plasma TNF genetic instrumental variants in breast cancer GWAS. Interestingly, the odds ratio (OR) = 1.517 with 95% confidence interval (CI), 1.006-2.288 and P = 0.047 of schizophrenia correspond to one unit increase in natural log-transformed TNF levels using IVW method. The increased trend was further proven using weighted median (OR = 1.585; 95% CI, 1.017-2.469; P = 0.042). Reverse MR analysis shows no causal effect of schizophrenia on plasma TNF levels.Conclusions: Our analysis suggested a causal association between genetically increased TNF signaling and increased risk of schizophrenia in the European population. Thus, TNF may be a potential risk for schizophrenia.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 6","pages":"238-245"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10448297","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

Genome-wide methylation analysis of early-onset schizophrenia. 早发性精神分裂症的全基因组甲基化分析

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-12-01 DOI: 10.1097/YPG.0000000000000317

Anil Srivastava, Zanib Chaudhary, Jessica Qian, Nzaar Al Chalabi, Amer M Burhan, Corinne E Fischer, Philip Gerretsen, Nathan J Kolla, Ariel Graff, Gary Remington, Vincenzo De Luca

{"title":"Genome-wide methylation analysis of early-onset schizophrenia.","authors":"Anil Srivastava, Zanib Chaudhary, Jessica Qian, Nzaar Al Chalabi, Amer M Burhan, Corinne E Fischer, Philip Gerretsen, Nathan J Kolla, Ariel Graff, Gary Remington, Vincenzo De Luca","doi":"10.1097/YPG.0000000000000317","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000317","url":null,"abstract":"Objective: Schizophrenia (SCZ) is a debilitating disease with a complex genetic cause in which age at onset may reflect genetic vulnerability. Though there has been some association between genetic polymorphisms and age of onset, there has been little exploration of the role of epigenetic processes. We sought to explore the influence of DNA methylation, a key epigenetic mechanism, and its association with the age of onset of illness.Methods: One hundred thirty-eight participants aged 18-75 years and previously diagnosed with SCZ spectrum disorders by the Structured Clinical Interview for the Diagnostic and Statistical Manual of Mental Disorders (SCID DSM-5) were recruited. Venous blood was collected and genome-wide DNA methylation was quantified using the Illumina Infinium HumanMethylation450 BeadChip array. Individual CpG sites and regions of differential methylation were explored by the age of onset; covariates included age, sex, as well as white blood cell composition.Results: Binary grouping (early vs. late onset) revealed four intergenic CpG sites on chromosome 2 that were above the expected P-value threshold, with hypermethylation of the CpG site cg10392614 most strongly associated with early-onset SCZ. The four most strongly associated CpG sites, including cg 10392614, were intergenic. Continuous analysis revealed the top CpG site to be cg11723066 , which is linked to the JAM3 gene, with hypomethylation associated with earlier onset; however, results were below the expected P-value threshold.Conclusion: Studies on DNA methylation in the first-episode psychosis population may help further our understanding of the role of epigenetics in the age of onset of SCZ.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 6","pages":"214-220"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10503892","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

Treatment-resistant manic episode in a patient diagnosed with bipolar affective disorder. 诊断为双相情感障碍患者的治疗抵抗性躁狂发作。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-12-01 DOI: 10.1097/YPG.0000000000000324

Nikolaos Papadimitriou, Diomidis Antoniadis, Athina Ververi

引用次数: 0

Mapping, clustering, and analysis of research in psychiatric genomics. 精神病学基因组学研究的制图、聚类和分析。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-12-01 DOI: 10.1097/YPG.0000000000000325

Sabita Yadav, Ayushi Chhabra, G Mahesh

{"title":"Mapping, clustering, and analysis of research in psychiatric genomics.","authors":"Sabita Yadav, Ayushi Chhabra, G Mahesh","doi":"10.1097/YPG.0000000000000325","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000325","url":null,"abstract":"Introduction: The distribution pattern and knowledge structure of psychiatric genomics were surveyed based on literature dealing with both psychiatry and genomics/genetics. Coword analysis and bibliographic coupling of the records retrieved from Scopus and PubMed for 2016-2020 revealed the subsurface research aspects.Method: The data were analyzed using coword analysis and clustering methods using Sci2 and VOSviewer.Result: Analysis of ~3800 records showed that psychiatric genomics is, as expectedly, covered largely under biomedical subjects with a visible interest in other disciplines such as humanities and ethics. A coword analysis was done for all the years, followed by a year-wise analysis based on the keywords, and then a bibliographic coupling based on the cited references. This led to the generation of different clusters of prevalent research areas. The centrality values described the position of each component.Discussion: 'Schizophrenia', 'depression', 'pharmacogenomics', and 'immunopathogenesis' were the research topics of overarching interest. 'Gut-brain axis' and 'gene-environment interaction' were the emerging topics, whereas certain topics such as 'child and adolescent psychiatry' remained priorities when compared to earlier studies. The keywords and research focus were diverse. They ranged from genetics to transcriptomics and epigenetics to proteomics of psychiatric disorders. We found a stagnation of science communication in the field with only 0.2% of the articles from the entire corpus relevant to it. The research categories identified in this study reflect the current publication and research trends in psychiatric genomics.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 6","pages":"221-237"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10438118","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: 0

In-depth investigations of the molecular basis underlying sex differences among middle-aged and elderly schizophrenia populations. 深入研究中老年精神分裂症人群性别差异的分子基础。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-10-01 DOI: 10.1097/YPG.0000000000000322

Yatang Chen, Lei Yu, Yilin Liu, Qing Long, Xu You, Jianping Liu, Yong Zeng

{"title":"In-depth investigations of the molecular basis underlying sex differences among middle-aged and elderly schizophrenia populations.","authors":"Yatang Chen, Lei Yu, Yilin Liu, Qing Long, Xu You, Jianping Liu, Yong Zeng","doi":"10.1097/YPG.0000000000000322","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000322","url":null,"abstract":"Sex can influence almost all aspects of schizophrenia. However, the molecular mechanisms underlying sex differences in schizophrenia remain poorly understood. In this project, the dataset GSE107638 containing neuronal RNA-seq data and age/sex information of individuals with or without schizophrenia were retrieved. Schizophrenia samples were divided into young male (M-1), young female (F-1), middle-aged and elderly male (M-2) and middle-aged and elderly female (F-2) groups. Next, green/yellow/turquoise modules related to the M-2 trait and turquoise module correlated with the F-2 trait were identified by weighted correlation network analysis (WGCNA) analysis (soft thresholding power: 13; min module size: 200). Crucial genes in the M-2 green, M-2 turquoise and F-2 turquoise modules were identified by WGCNA, gene significance/module membership, and protein-protein interaction (PPI) analysis. Moreover, 2067 and 934 differentially expressed genes (|log2 fold-change| ≥0.58 and P-value < 0.05) in M-2 and F-2 schizophrenia subgroups versus same-age and same-sex counterparts were identified, respectively. Additionally, 82 core genes in the M-2 turquoise module and 4 hub genes in the F-2 turquoise module were differentially expressed in M-2 and F-2 schizophrenia subgroups versus their counterparts, respectively. Among the 82 hub genes, 15 genes were found to be correlated with neuronal development by the Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Also, 2 potential PPI networks related to neuronal development were identified. Taken together, multiple potential hub genes and 2 potential neurobiological networks related to schizophrenia sex differences and disease progression were identified among middle-aged and elderly schizophrenia populations.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 5","pages":"178-187"},"PeriodicalIF":0.9,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10793572","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: 0

Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them. 新的RPS6KA3突变导致两名患者出现Coffin-Lowry综合征，其中一名患者同时出现强迫性拉眉毛行为。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-10-01 DOI: 10.1097/YPG.0000000000000323

Semra Gürsoy, Filiz Hazan, Elif Çetinoğlu

引用次数: 0

Genetic determinants associated with response to clozapine in schizophrenia: an umbrella review. 与精神分裂症患者对氯氮平反应相关的遗传决定因素：综述。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2022-10-01 Epub Date: 2022-07-20 DOI: 10.1097/YPG.0000000000000320

Marte Z van der Horst, Georgia Papadimitriou, Jurjen J Luykx

{"title":"Genetic determinants associated with response to clozapine in schizophrenia: an umbrella review.","authors":"Marte Z van der Horst, Georgia Papadimitriou, Jurjen J Luykx","doi":"10.1097/YPG.0000000000000320","DOIUrl":"10.1097/YPG.0000000000000320","url":null,"abstract":"Objective: Clozapine response varies widely from person to person, which may be due to inter-individual genetic variability. This umbrella review aims to summarize the current evidence on associations between pharmacodynamic genes and response to clozapine treatment.Methods: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis methodology, a systematic literature search was conducted in the PubMed and EMBASE databases from inception to November 2021 to identify systematic reviews and meta-analyses of studies that examined genetic determinants of clozapine response. The quality of the reviews was assessed with the AMSTAR-2 tool.Results: From a total of 128 records, 10 studies representing nine systematic reviews and one meta-analysis met our inclusion criteria. The overall quality of the included studies was poor. All systematic reviews concluded that the results of primary studies were largely negative or conflicting. Most evidence was found for an association with clozapine response and rs6313 and rs6314 within HTR2A and rs1062613 within HTR3A in the serotonergic system.Conclusions: Conclusive evidence for associations between genetic variants and clozapine response is still lacking. Hypothesis-generating genetic studies in large, well-characterized study populations are urgently needed to obtain more consistent and clinically informative results. Future studies may also include multi-omics approaches to identify novel genetic determinants associated with clozapine response.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 5","pages":"163-170"},"PeriodicalIF":1.5,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10447199","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: 0

Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population. SCHEMA鉴定的中国汉族人群精神分裂症危险基因的关联分析。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2022-10-01 Epub Date: 2022-09-14 DOI: 10.1097/YPG.0000000000000321

Aiguo Guo, Peng Lun, Jianhua Chen, Qinghua Li, Kaihui Chang, Teng Li, Dun Pan, Jinmai Zhang, Juan Zhou, Ke Wang, Qian Zhang, Qiangzhen Yang, Chengwen Gao, Chuanhong Wu, Xuemin Jian, Yanqin Wen, Zhuo Wang, Yongyong Shi, Xiangzhong Zhao, Peng Sun, Zhiqiang Li

{"title":"Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population.","authors":"Aiguo Guo, Peng Lun, Jianhua Chen, Qinghua Li, Kaihui Chang, Teng Li, Dun Pan, Jinmai Zhang, Juan Zhou, Ke Wang, Qian Zhang, Qiangzhen Yang, Chengwen Gao, Chuanhong Wu, Xuemin Jian, Yanqin Wen, Zhuo Wang, Yongyong Shi, Xiangzhong Zhao, Peng Sun, Zhiqiang Li","doi":"10.1097/YPG.0000000000000321","DOIUrl":"10.1097/YPG.0000000000000321","url":null,"abstract":"Background: Schizophrenia is a chronic brain disorder. Previously, the Schizophrenia Exome Sequencing Meta-analysis consortium identified 10 highest risk genes related to schizophrenia. This study aimed to analyze the relationship between the 10 highest risk genes identified by the SCHEMA and schizophrenia in a Chinese population.Methods: A total of 225 variants in 10 genes were screened in a Chinese population of 6836 using a customized array. All variants were annotated through the Variant Effect Predictor tool, and the functional impacts of missense variants were assessed based on sorting intolerant from tolerant and PolyPhen-2 scores. The SHEsisPlus tool was used to analyze the association between risk genes and schizophrenia at the locus and gene levels.Results: At the locus level, no missense variants significantly related to schizophrenia were found, but we detected three missense variants that appeared only in cases, including TRIO p. Arg1185Gln, RB1CC1 p. Arg1514Cys, and HERC1 p. Val4517Leu. At the gene level, five genes (TRIO, RB1CC1, HERC1, GRIN2A, and CACAN1G) with more than one variant analyzed were kept for the gene-level association analysis. Only the association between RB1CC1 and schizophrenia reached a significant level (OR = 1.634; 95% CI, 1.062-2.516; P = 0.025).Conclusion: In this study, we determined that RB1CC1 might be a risk gene for schizophrenia in the Chinese population. Our results provide new evidence for recognizing the correlation of these risk genes with the Chinese schizophrenia population.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 5","pages":"188-193"},"PeriodicalIF":0.9,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10504399","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