Psychiatric Genetics最新文献_第3页

Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4. 基于全外显子的单核苷酸变异和拷贝数分析用于 SMPD4 复合杂合性的产前诊断。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-06-01 Epub Date: 2024-04-04 DOI: 10.1097/YPG.0000000000000369

Jun Du, Lin Li, Dinghu Fu

{"title":"Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4.","authors":"Jun Du, Lin Li, Dinghu Fu","doi":"10.1097/YPG.0000000000000369","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000369","url":null,"abstract":"Background: Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental disorder. These variants have been identified in a group of children with neurodevelopmental disorders with microcephaly, arthrogryposis, and structural brain anomalies. SMPD4 encodes a sphingomyelinase that hydrolyzes sphingomyelin into ceramide at neutral pH and can thereby affect membrane lipid homeostasis. SMPD4 localizes to the membranes of the endoplasmic reticulum and nuclear envelope and interacts with nuclear pore complexes.Materials and methods: For the efficient prenatal diagnosis of rare and undiagnosed diseases, the parallel detection of copy number variants (CNVs) and single nucleotide variants using whole-exome analysis is required. A physical examination of the parents was performed. Karyotype and whole-exome analysis were performed for the fetus and the parents.Results: A fetus with microcephaly and arthrogryposis; biallelic null variants (c.387-1G>A; Chr2[GRCh38]: g.130142742_130202459del) were detected by whole-exome sequencing (WES). We have reported for the first time the biallelic loss-of-function mutations in SMPD4 in patients born to unrelated parents in China.Conclusion: WES could replace chromosomal microarray analysis and copy number variation sequencing as a more cost-effective genetic test for detecting CNVs and diagnosing highly heterogeneous conditions.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"34 3","pages":"74-80"},"PeriodicalIF":0.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867496","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

Causal link between gut microbiome and schizophrenia: a Mendelian randomization study. 肠道微生物组与精神分裂症之间的因果关系：孟德尔随机研究。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-04-01 Epub Date: 2024-02-19 DOI: 10.1097/YPG.0000000000000361

Qi Zeng, Min Zhang, Renxi Wang

{"title":"Causal link between gut microbiome and schizophrenia: a Mendelian randomization study.","authors":"Qi Zeng, Min Zhang, Renxi Wang","doi":"10.1097/YPG.0000000000000361","DOIUrl":"10.1097/YPG.0000000000000361","url":null,"abstract":"Objective: Some observational studies have shown that gut microbiome is significantly changed in patients with schizophrenia. We aim to identify the genetic causal link between gut microbiome and schizophrenia.Methods: A two-sample Mendelian randomization (MR) study was used to evaluate the causal link between gut microbiome and schizophrenia with 28 gut microbiome-associated genetic instrumental variants chosen from recent MR reports and the largest schizophrenia genome-wide association studies (8-Apr-22 release).Results: Inverse variance weighted method showed that genetically increased Bacteroidales_S24-7 (per SD) resulted in increased risk of schizophrenia (OR = 1.110, 95% CI: [1.012-1.217], P = 0.027). Similarly, genetically increased Prevotellaceae promoted schizophrenia risk (OR = 1.124, 95% CI: [1.030-1.228], P = 0.009). However, genetically increased Lachnospiraceae reduced schizophrenia risk (OR = 0.878, 95% CI: [0.785-0.983], P = 0.023). In addition, schizophrenia risk was also suppressed by genetically increased Lactobacillaceae (OR = 0.878, 95% CI: [0.776-0.994], P = 0.040) and Verrucomicrobiaceae (OR = 0.860, 95% CI: [0.749-0.987], P = 0.032). Finally, we did not find any significant results in the causal association of other 23 gut microbiome with schizophrenia.Conclusion: Our analysis suggests that genetically increased Bacteroidales_S24-7 and Prevotellaceae promotes schizophrenia risk, whereas genetically increased Lachnospiraceae, Lactobacillaceae, and Verrucomicrobiaceae reduces schizophrenia risk. Thus, regulation of the disturbed intestinal microbiota may represent a new therapeutic strategy for patients with schizophrenia.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"43-53"},"PeriodicalIF":0.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140028747","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

A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder. 两兄弟患有自闭症谱系障碍的致病性 P4HTM 基因变异。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-04-01 Epub Date: 2024-02-23 DOI: 10.1097/YPG.0000000000000364

Nur Seda Gülcü Üstün

引用次数: 0

Mechanism of electroconvulsive therapy in schizophrenia: a bioinformatics analysis study of RNA-seq data. 精神分裂症的电休克治疗机制：RNA-seq 数据的生物信息学分析研究。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-04-01 Epub Date: 2024-03-01 DOI: 10.1097/YPG.0000000000000362

Tingting Wang, Minglan Yu, Xiaochu Gu, Xuemei Liang, Ping Wang, Wanhong Peng, Dongmei Liu, Dechao Chen, Chaohua Huang, Youguo Tan, Kezhi Liu, Bo Xiang

{"title":"Mechanism of electroconvulsive therapy in schizophrenia: a bioinformatics analysis study of RNA-seq data.","authors":"Tingting Wang, Minglan Yu, Xiaochu Gu, Xuemei Liang, Ping Wang, Wanhong Peng, Dongmei Liu, Dechao Chen, Chaohua Huang, Youguo Tan, Kezhi Liu, Bo Xiang","doi":"10.1097/YPG.0000000000000362","DOIUrl":"10.1097/YPG.0000000000000362","url":null,"abstract":"Objective: The molecular mechanism of electroconvulsive therapy (ECT) for schizophrenia remains unclear. The aim of this study was to uncover the underlying biological mechanisms of ECT in the treatment of schizophrenia using a transcriptional dataset.Methods: The peripheral blood mRNA sequencing data of eight patients (before and after ECT) and eight healthy controls were analyzed by integrated co-expression network analysis and the differentially expressed genes were analyzed by cluster analysis. Gene set overlap analysis was performed using the hypergeometric distribution of phypfunction in R. Associations of these gene sets with psychiatric disorders were explored. Tissue-specific enrichment analysis, gene ontology enrichment analysis, and protein-protein interaction enrichment analysis were used for gene set organization localization and pathway analysis.Results: We found the genes of the green-yellow module were significantly associated with the effect of ECT treatment and the common gene variants of schizophrenia ( P = 0.0061; family-wise error correction). The genes of the green-yellow module are mainly enriched in brain tissue and mainly involved in the pathways of neurotrophin, mitogen-activated protein kinase and long-term potentiation.Conclusion: Genes associated with the efficacy of ECT were predominantly enriched in neurotrophin, mitogen-activated protein kinase and long-term potentiation signaling pathways.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"54-60"},"PeriodicalIF":0.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140028816","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

The ethics of polygenic scores in psychiatry: minefield or opportunity for patient-centered psychiatry? 精神病学中的多基因评分伦理：雷区还是以患者为中心的精神病学的机遇？

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-04-01 Epub Date: 2024-03-01 DOI: 10.1097/YPG.0000000000000363

Roel H P Wouters, Marte Z van der Horst, Cora M Aalfs, Janita Bralten, Jurjen J Luykx, Janneke R Zinkstok

{"title":"The ethics of polygenic scores in psychiatry: minefield or opportunity for patient-centered psychiatry?","authors":"Roel H P Wouters, Marte Z van der Horst, Cora M Aalfs, Janita Bralten, Jurjen J Luykx, Janneke R Zinkstok","doi":"10.1097/YPG.0000000000000363","DOIUrl":"10.1097/YPG.0000000000000363","url":null,"abstract":"Recent advancements in psychiatric genetics have sparked a lively debate on the opportunities and pitfalls of incorporating polygenic scores into clinical practice. Yet, several ethical concerns have been raised, casting doubt on whether further development and implementation of polygenic scores would be compatible with providing ethically responsible care. While these ethical issues warrant thoughtful consideration, it is equally important to recognize the unresolved need for guidance on heritability among patients and their families. Increasing the availability of genetic counseling services in psychiatry should be regarded as a first step toward meeting these needs. As a next step, future integration of novel genetic tools such as polygenic scores into genetic counseling may be a promising way to improve psychiatric counseling practice. By embedding the exploration of polygenic psychiatry into the supporting environment of genetic counseling, some of the previously identified ethical pitfalls may be prevented, and opportunities to bolster patient empowerment can be seized upon. To ensure an ethically responsible approach to psychiatric genetics, active collaboration with patients and their relatives is essential, accompanied by educational efforts to facilitate informed discussions between psychiatrists and patients.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"31-36"},"PeriodicalIF":0.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140028817","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

Causal association of attention-deficit/hyperactivity disorder and autism spectrum disorder with post-traumatic stress disorder. 注意缺陷/多动症和自闭症谱系障碍与创伤后应激障碍的因果关系。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-04-01 Epub Date: 2024-01-23 DOI: 10.1097/YPG.0000000000000357

Yuqing Song, Yi Zhao, Ancha Baranova, Hongbao Cao, Weihua Yue, Fuquan Zhang

{"title":"Causal association of attention-deficit/hyperactivity disorder and autism spectrum disorder with post-traumatic stress disorder.","authors":"Yuqing Song, Yi Zhao, Ancha Baranova, Hongbao Cao, Weihua Yue, Fuquan Zhang","doi":"10.1097/YPG.0000000000000357","DOIUrl":"10.1097/YPG.0000000000000357","url":null,"abstract":"Background: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two neurodevelopmental disorders that often result in individuals experiencing traumatic events. However, little is known about the connection between ADHD/ASD and post-traumatic stress disorder (PTSD). This study aimed to investigate the genetic associations between these disorders.Methods: Genetic correlation analysis was used to examine the genetic components shared between ADHD (38 691 cases and 275 986 controls), ASD (18 381 cases and 27 969 controls) and PTSD (23 212 cases and 151 447 controls). Two-sample Mendelian randomization analyses were employed to explore the bidirectional causal relationships between ADHD/ASD and PTSD.Results: The results of the genetic correlation analysis revealed significant positive correlations of PTSD with ADHD(r g = 0.70) and ASD (r g = 0.34). Furthermore, the Mendelian randomization analysis revealed that genetic liabilities to ADHD [odds ratio (OR) = 1.14; 95% confidence interval (CI), 1.06-1.24; P = 7.88 × 10 -4 ] and ASD (OR = 1.04; CI, 1.01-1.08; P = 0.014) were associated with an increased risk of developing PTSD later in life. However, no evidence supported that genetic liability to PTSD could elevate the risk of ADHD or ASD.Conclusion: The findings of this study supported that ADHD and ASD may increase the risk of PTSD, but not vice versa.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"37-42"},"PeriodicalIF":0.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10919267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139576242","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

Diagnostic significance and potential function of miR-320d in schizophrenia. miR-320d 在精神分裂症中的诊断意义和潜在功能。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-04-01 Epub Date: 2024-03-01 DOI: 10.1097/YPG.0000000000000365

Fangfang Ren, Qi Si, Yuxiu Sui

{"title":"Diagnostic significance and potential function of miR-320d in schizophrenia.","authors":"Fangfang Ren, Qi Si, Yuxiu Sui","doi":"10.1097/YPG.0000000000000365","DOIUrl":"10.1097/YPG.0000000000000365","url":null,"abstract":"Objectives: Schizophrenia is a chronic brain disorder and needs objective diagnostic biomarkers. MicroRNAs are highly expressed in the nervous system. The study investigated the expression and clinical values of serum miR-320d in schizophrenia patients. In addition, the underlying mechanism was preliminarily examined via bioinformatic analysis.Materials and methods: Serum samples were collected from 57 patients with first-episode schizophrenia and 62 healthy controls. The cognitive function of patients was assessed via Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery (MCCB) consisting of seven domains. Serum miR-320d levels were tested via qRT-PCR. The miRNA target predictions were obtained from Target Scan, and annotated through Gene Ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis.Results: Based on the GSE167630 dataset, downregulated serum miR-320d in schizophrenia was identified, which was determined in the serum of schizophrenia patients. Serum miR-320d presented a conspicuous relationship with MCCB score in both the control group and the schizophrenia group. After adjusting for age, sex, BMI, and education, serum miR-320d was still independently related to the occurrence of schizophrenia. It can identify schizophrenia cases from healthy ones with an AUC of 0.931. The Go enrichment analysis indicated that the target genes were mainly enriched in homophilic cell adhesion and cell-cell adhesion via plasma-membrane adhesion molecules, and GTPase activity and guanosine diphosphate (GDP) binding. Rap1 signaling pathway was enriched via KEGG analysis.Conclusion: Serum miR-320d can be taken as a candidate marker for the diagnosis of schizophrenia. Its regulatory role in neuronal cell adhesion and Rap1 signaling pathway might be the potential underlying mechanism of miR-320d in schizophrenia.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"61-67"},"PeriodicalIF":0.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140028815","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

UK Biobank subjects carrying protein truncating variants in HERC1 are not at substantially increased risk of minor psychiatric disorders. 英国生物库中携带 HERC1 蛋白截短变体的受试者患轻微精神疾病的风险并没有大幅增加。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-02-01 Epub Date: 2024-01-03 DOI: 10.1097/YPG.0000000000000356

David Curtis

引用次数: 0

22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder. 涉及 SHANK3 基因的 22q13.33 重复：一名患有 "持续性 "语言和语音障碍的男孩及其母亲。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-02-01 Epub Date: 2023-12-04 DOI: 10.1097/YPG.0000000000000355

Elisa Granocchio, Eleonora Pollina, Marinella De Salvatore, Maria R Scopelliti, Giorgia Tanzi, Francesca L Sciacca, Stefano D'Arrigo, Claudia Ciaccio

引用次数: 0

Maternal 15q11.2-q13.1 duplication syndrome-associated psychosis and mania: a new case and review of the literature. 母体15q11.2-q13.1重复综合征相关精神病和躁狂症:一例新病例及文献复习

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-02-01 Epub Date: 2023-11-15 DOI: 10.1097/YPG.0000000000000354

Mark Ainsley Colijn, Christopher S Smith, Mary Ann Thomas

引用次数: 0