Psychiatric Genetics最新文献

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Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots. 神经发育障碍患者染色体2q12.3-q13拷贝数变异:基因型-表型相关性及新热点
IF 0.9 4区 医学
Psychiatric Genetics Pub Date : 2022-10-01 DOI: 10.1097/YPG.0000000000000319
Mahmoud Aarabi, Jacqueline Baumann, Melanie Babcock, Elena Kessler, Jessica Sebastian, Suneeta Madan-Khetarpal, Jie Hu, Zhishuo Ou, Svetlana Yatsenko
{"title":"Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.","authors":"Mahmoud Aarabi,&nbsp;Jacqueline Baumann,&nbsp;Melanie Babcock,&nbsp;Elena Kessler,&nbsp;Jessica Sebastian,&nbsp;Suneeta Madan-Khetarpal,&nbsp;Jie Hu,&nbsp;Zhishuo Ou,&nbsp;Svetlana Yatsenko","doi":"10.1097/YPG.0000000000000319","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000319","url":null,"abstract":"<p><strong>Introduction: </strong>The complex structure of the chromosome 2q12.3-q13 region provides a high chance of recombination events between various low copy repeats (LCRs). Copy number variants (CNV) in this region are present in both healthy populations and individuals affected with developmental delay, autism and congenital anomalies. Variable expressivity, reduced penetrance and limited characterization of the affected genes have complicated the classification of the CNVs clinical significance.</p><p><strong>Methods: </strong>Chromosomal microarray analysis data were reviewed for 10 298 patients with neurodevelopmental disorders referred to the UPMC Medical Genetics and Genomics Laboratories. A genotype-phenotype correlation was performed among the patients harboring the 2q12.3-q13 CNVs with overlapping genomic intervals.</p><p><strong>Results: </strong>We identified 17 (1 in ~600) individuals with rare CNVs in the 2q12.3-q13 region, including nine patients with deletions, seven individuals with duplications and one patient who had both a deletion and a duplication. Likely pathogenic CNVs with the breakpoints between LCRs encompassing the potential dosage-sensitive genes BCL2L11, BUB1, FBLN7 and TMEM87B were the most common. CNVs were also observed between LCRs surrounding the RANBP2 and LIMS1 genes.</p><p><strong>Conclusion: </strong>Our study provides evidence for pathogenic CNV hotspots within the chromosome 2q12.3-q13 region. We suggest CNV classification based on the affected interval and the involvement of potential dosage-sensitive genes in these patients.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 5","pages":"171-177"},"PeriodicalIF":0.9,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10503891","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
Genome-wide DNA methylation profiles of autism spectrum disorder. 自闭症谱系障碍的全基因组DNA甲基化图谱。
IF 0.9 4区 医学
Psychiatric Genetics Pub Date : 2022-08-01 Epub Date: 2022-03-31 DOI: 10.1097/YPG.0000000000000314
Ling Sun, Xueyi Wang, Xia Wang, Xiaowei Cui, Guixia Li, Le Wang, Lan Wang, Mei Song, Lulu Yu
{"title":"Genome-wide DNA methylation profiles of autism spectrum disorder.","authors":"Ling Sun,&nbsp;Xueyi Wang,&nbsp;Xia Wang,&nbsp;Xiaowei Cui,&nbsp;Guixia Li,&nbsp;Le Wang,&nbsp;Lan Wang,&nbsp;Mei Song,&nbsp;Lulu Yu","doi":"10.1097/YPG.0000000000000314","DOIUrl":"10.1097/YPG.0000000000000314","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to identify differentially methylated genes and related signaling pathways in autism spectrum disorder (ASD).</p><p><strong>Methods: </strong>First, the DNA methylation profile in the brain samples (GSE131706 and GSE80017) and peripheral blood samples (GSE109905) was downloaded from the Gene Expression Omnibus database (GEO) dataset, followed by identification of differentially methylated genes and functional analysis. Second, the GSE109905 data set was used to further validate the methylation state and test the ability to diagnose disease of identified differentially methylated genes. Third, expression measurement of selected differentially methylated genes was performed in whole blood from an independent sample. Finally, protein-protein interaction (PPI) network of core differentially methylated genes was constructed.</p><p><strong>Results: </strong>Totally, 74 differentially methylated genes were identified in ASD, including 38 hypermethylated genes and 36 hypomethylated genes. 15 differentially methylated genes were further identified after validation in the GSE109905 data set. Among these, major histocompatibility complex (HLA)-DQA1 was involved in the molecular function of myosin heavy chain class II receptor activity; HLA-DRB5 was involved in the signaling pathways of cell adhesion molecules, Epstein-Barr virus infection and antigen processing and presentation. In the PPI analysis, the interaction pairs of HLA-DQA1 and HLA-DRB5, FMN2 and ACTR3, and CALCOCO2 and BAZ2B were identified. Interestingly, FMN2, BAZ2B, HLA-DRB5, CALCOCO2 and DUSP22 had a potential diagnostic value for patients with ASD. The expression result of four differentially methylated genes (HLA-DRB5, NTM, IL16 and COL5A3) in the independent sample was consistent with the integrated analysis.</p><p><strong>Conclusions: </strong>Identified differentially methylated genes and enriched signaling pathway could be associated with ASD.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 4","pages":"131-145"},"PeriodicalIF":0.9,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10444183","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
Variants of Th17 pathway-related genes influence brain morphometric changes and the risk of schizophrenia through epistatic interactions. Th17通路相关基因的变体通过上位性相互作用影响大脑形态计量学变化和精神分裂症的风险。
IF 0.9 4区 医学
Psychiatric Genetics Pub Date : 2022-08-01 Epub Date: 2022-03-31 DOI: 10.1097/YPG.0000000000000315
Manjula Subbanna, Venkataram Shivakumar, Gaurav Bhalerao, Shivarama Varambally, Ganesan Venkatasubramanian, Monojit Debnath
{"title":"Variants of Th17 pathway-related genes influence brain morphometric changes and the risk of schizophrenia through epistatic interactions.","authors":"Manjula Subbanna, Venkataram Shivakumar, Gaurav Bhalerao, Shivarama Varambally, Ganesan Venkatasubramanian, Monojit Debnath","doi":"10.1097/YPG.0000000000000315","DOIUrl":"10.1097/YPG.0000000000000315","url":null,"abstract":"<p><strong>Objective: </strong>T helper 17 (Th17) pathway has been reported to be abnormal in schizophrenia; however, it is not known whether variation within genes of this pathway has any impact on schizophrenia. Herein, the impact of genetic variations and gene-gene interactions of Th17 pathway-related genes on the risk, psychopathology, and brain volume was examined in schizophrenia patients.</p><p><strong>Methods: </strong>Functional polymorphisms within interleukin 6 ( IL6 )(rs1800795 and rs1800797), IL10 (rs1800872 and rs1800896), IL17A (rs2275913 and rs8193036), IL22 (rs2227484 and rs2227485), IL23R (rs1884444), and IL27 (rs153109 and rs181206) genes were studied in 224 schizophrenia patients and 226 healthy controls. These variants were correlated with the brain morphometry, analyzed using MRI in a subset of patients ( n = 117) and controls ( n = 137).</p><p><strong>Results: </strong>Patients carrying CC genotype of rs2227484 of IL22 gene had significantly higher apathy total score [ F (1,183) = 5.60; P = 0.019; partial ɳ 2 = 0.030]. Significant epistatic interactions between IL6 (rs1800797) and IL17A (rs2275913) genes were observed in schizophrenia patients. GG genotype of rs2275913 of IL17A gene was associated with reduced right middle occipital gyrus volume in schizophrenia patients ( T = 4.56; P < 0.001).</p><p><strong>Conclusion: </strong>Interactions between genes of Th17 pathway impact the risk for schizophrenia. The variants of Th17 pathway-related genes seem to have a determining effect on psychopathology and brain morphometric changes in schizophrenia.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 4","pages":"146-155"},"PeriodicalIF":0.9,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10435268","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
Clinical features of UK Biobank subjects carrying protein-truncating variants in genes implicated in schizophrenia pathogenesis. 英国生物库受试者携带与精神分裂症发病机制相关基因的蛋白质截短变体的临床特征。
IF 0.9 4区 医学
Psychiatric Genetics Pub Date : 2022-08-01 Epub Date: 2022-06-27 DOI: 10.1097/YPG.0000000000000318
David Curtis
{"title":"Clinical features of UK Biobank subjects carrying protein-truncating variants in genes implicated in schizophrenia pathogenesis.","authors":"David Curtis","doi":"10.1097/YPG.0000000000000318","DOIUrl":"10.1097/YPG.0000000000000318","url":null,"abstract":"<p><strong>Objective: </strong>The SCHEMA consortium has identified 10 genes in which protein-truncating variants (PTVs) confer a substantial risk of schizophrenia. This study aimed to determine whether carrying these PTVs was associated with neuropsychiatric impairment in the general population.</p><p><strong>Methods: </strong>Phenotype fields of exome-sequenced participants in the UK Biobank who carried PTVs in these genes were studied to determine to what extent they demonstrated features of schizophrenia or had neuropsychiatric impairment.</p><p><strong>Results: </strong>Following automated quality control and visual inspection of reads, 251 subjects were identified as having well-supported PTVs in one of these genes. The frequency of PTVs in CACNA1G was higher than that had been observed in SCHEMA cases, casting doubt on its role in schizophrenia pathogenesis, but otherwise rates were similar to those observed in SCHEMA controls. Numbers were too small to allow formal statistical analysis but in general carriers of PTVs did not appear to have high rates of psychiatric illness or reduced educational or occupational functioning. One subject with a PTV in SETD1A had a diagnosis of schizophrenia, one with a PTV in HERC1 had psychotic depression and two subjects seemed to have developmental disorders, one with a PTV in GRIN2A and one with a PTV in RBCC1. There seemed to be somewhat increased rates of affective disorders among carriers of PTVs in HERC1 and RB1CC1 .</p><p><strong>Conclusion: </strong>Carriers of PTVs did not appear to have subclinical manifestations of schizophrenia. Although PTVs in these genes can substantially increase schizophrenia risk, their effect seems to be dichotomous and most carriers appear psychiatrically well. This research has been conducted using the UK Biobank Resource.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 4","pages":"156-161"},"PeriodicalIF":0.9,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10858248","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
Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach. 使用无遗传模型方法对自闭症谱系障碍的遗传关联研究进行综合。
IF 0.9 4区 医学
Psychiatric Genetics Pub Date : 2022-06-01 Epub Date: 2022-03-31 DOI: 10.1097/YPG.0000000000000316
Ioanna Mpoulimari, Elias Zintzaras
{"title":"Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach.","authors":"Ioanna Mpoulimari,&nbsp;Elias Zintzaras","doi":"10.1097/YPG.0000000000000316","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000316","url":null,"abstract":"<p><strong>Background: </strong>Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of neurodevelopmental disorders. Despite the extensive efforts of scientists, the etiology of ASD is far from completely elucidated. In an effort to enlighten the genetic architecture of ASDs, a meta-analysis of all available genetic association studies (GAS) was conducted.</p><p><strong>Methods: </strong>We searched in the Human Genome Epidemiology Navigator (HuGE Navigator) and PubMed for available case-control GAS of ASDs. The threshold for meta-analysis was two studies per genetic variant. The association between genotype distribution and ASDs was examined using the generalized linear odds ratio (ORG). For variants with available allele frequencies, the examined model was the allele contrast.</p><p><strong>Results: </strong>Overall, 57 candidate genes and 128 polymorphisms were investigated in 159 articles. In total 28 genetic polymorphisms have been shown to be associated with ASDs, that are harbored in 19 genes. Statistically significant results were revealed for the variants of the following genes adenosine deaminase (ADA), bone marrow stromal cell antigen-1 (CD157/BST1), Dopamine receptor D1 (DRD1), engrailed homolog 2 (EN2), met proto-oncogene (MET), methylenetetrahydrofolate reductase (MTHFR), solute carrier family 6 member 4 (SLC6A4), Synaptosomal-associated protein, 25kDa (SNAP-25) and vitamin D receptor (VDR). In the allele contrast model of cases versus healthy controls, significant associations were observed for Adrenoceptor Alpha 1B (ADRA1B), acetyl serotonin O - methyltransferase (ASMT), complement component 4B (C4B), dopamine receptor D3 (DRD3), met proto-oncogene (MET), neuroligin 4, X-linked (NLGN4), neurexin 1 (NRXN1), oxytocin receptor (OXTR), Serine/Threonine-Protein Kinase PFTAIRE-1 (PFTK1), Reelin (RELN) and Ras-like without CAAX 2 (RIT2).</p><p><strong>Conclusion: </strong>These significant findings provide further evidence for genetic factors' implication in ASDs offering new perspectives in means of prevention and prognosis.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 3","pages":"91-104"},"PeriodicalIF":0.9,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41149360","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: 5
Psycho-cognitive assessment and quality of life in older adults with chronic obstructive pulmonary disease-carrying the rs4713916 gene polymorphism (G/A) of gene FKBP5 and response to pulmonary rehabilitation: a proof of concept study. 携带FKBP5基因rs4713916基因多态性(G/A)的老年慢性阻塞性肺病患者的心理认知评估和生活质量以及对肺部康复的反应:一项概念验证研究。
IF 0.9 4区 医学
Psychiatric Genetics Pub Date : 2022-06-01 Epub Date: 2022-01-31 DOI: 10.1097/YPG.0000000000000308
Federica Marcolongo, Simone Scarlata, Carlo Tomino, Chiara De Dominicis, Robertina Giacconi, Marco Malavolta, Stefano Bonassi, Patrizia Russo, Giulia Prinzi
{"title":"Psycho-cognitive assessment and quality of life in older adults with chronic obstructive pulmonary disease-carrying the rs4713916 gene polymorphism (G/A) of gene FKBP5 and response to pulmonary rehabilitation: a proof of concept study.","authors":"Federica Marcolongo,&nbsp;Simone Scarlata,&nbsp;Carlo Tomino,&nbsp;Chiara De Dominicis,&nbsp;Robertina Giacconi,&nbsp;Marco Malavolta,&nbsp;Stefano Bonassi,&nbsp;Patrizia Russo,&nbsp;Giulia Prinzi","doi":"10.1097/YPG.0000000000000308","DOIUrl":"10.1097/YPG.0000000000000308","url":null,"abstract":"<p><strong>Purpose: </strong>Chronic obstructive pulmonary disease (COPD) is characterized by pulmonary and extra-pulmonary multi-morbidity including depression, anxiety and cognitive disorders. Several studies investigated the association of the FKBP5 gene polymorphisms with susceptibility to anxiety, depression, and behavioral disorders. The FKBP5 gene codifies the FKBP51 protein which modulates the glucocorticoid receptor in the adaptive stress response. Genetic variants of the FKBP5 gene have been associated to a higher risk of developing mental disorders. We analyzed the association of genetic variants and stress exposure investigating the susceptibility to psychological distress and the impact on cognitive balance and quality of life (QoL) of COPD patients carrying the rs4713916 polymorphism (G/A) and we examined its association, with COPD rehabilitative outcomes.</p><p><strong>Materials and methods: </strong>A pilot study evaluated cognitive, psychological, clinical alterations/disorders, QoL, and coping strategies in 70 older adults with COPD, undergoing pulmonary rehabilitation, stratified according to the FKBP5 rs4713916 genotype (GG or GA).</p><p><strong>Results: </strong>Carriers of rs4713916 polymorphisms (G/A) show better cognitive performances, a higher degree of independence in the daily living activities, better QoL, no presence of depressive mood and anxiety symptoms, no family history of psychiatric disorders, more ability to cope with stressors by avoiding emotions but demanding emotional support, and lesser use of anti-anxiety, anti-depressant, anti-psychotic, hypnotic-sedative drugs. No difference was found in the number of comorbidities.</p><p><strong>Conclusion: </strong>These results offer valuable insights into the role of FKBP5 in the complex network of mechanisms associated to clinical, psychological and behavioral features of COPD patients.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 3","pages":"116-124"},"PeriodicalIF":0.9,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39577187","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
Brain differential gene expression and blood cross-validation of a molecular signature of patients with major depressive disorder. 重度抑郁症患者的脑差异基因表达和血液交叉验证分子特征。
IF 0.9 4区 医学
Psychiatric Genetics Pub Date : 2022-06-01 Epub Date: 2022-01-12 DOI: 10.1097/YPG.0000000000000309
Hugo Gomez Rueda, Juan Bustillo
{"title":"Brain differential gene expression and blood cross-validation of a molecular signature of patients with major depressive disorder.","authors":"Hugo Gomez Rueda,&nbsp;Juan Bustillo","doi":"10.1097/YPG.0000000000000309","DOIUrl":"10.1097/YPG.0000000000000309","url":null,"abstract":"<p><strong>Introduction: </strong>The agreement between clinicians diagnosing major depressive disorder (MDD) is poor. The objective of this study was to identify a reproducible and robust gene expression marker capable of differentiating MDD from healthy control (HC) subjects.</p><p><strong>Materials and methods: </strong>Brain and blood gene expression datasets were searched, which included subjects with MDD and HC. The largest database including different areas of brain samples (GSE80655) was used to identify an initial gene expression marker. Tests of robustness and reproducibility were then implemented in 13 brain and 7 blood independent datasets. Correlations between expression in brain and blood samples were also examined. Finally, an enrichment analysis to explore the marker biological meaning was completed.</p><p><strong>Results: </strong>Twenty-eight genes were differentially expressed in GSE80655, of which 23 were critical to differentiate MDD from HC. The accuracy obtained using the 23 genes was 0.77 and 0.8, before and after the forward selection model, respectively. The gene marker's robustness and reproducibility were between the range of 0.46 and 0.63 in the other brain datasets and between 0.45 and 0.78 for the blood datasets. Brain and blood expression tended to correlate in some samples. Thirteen of the 23 genes were related to stress and immune response.</p><p><strong>Conclusion: </strong>A 23 gene expression marker was able to distinguish subjects with MDD from HC, with adequate reproducibility and low robustness in the independent databases investigated. This gene set was similarly expressed in the brain and blood and involved genes related to stress and immune response.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 3","pages":"105-115"},"PeriodicalIF":0.9,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4a/46/pg-32-105.PMC9071037.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39821243","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
Identification of rare mutations of the vasoactive intestinal peptide receptor 2 gene in schizophrenia. 精神分裂症患者血管活性肠肽受体2基因罕见突变的鉴定。
IF 0.9 4区 医学
Psychiatric Genetics Pub Date : 2022-06-01 Epub Date: 2022-03-31 DOI: 10.1097/YPG.0000000000000313
Chia-Hsiang Chen, Min-Chih Cheng, Tsung-Ming Hu, Lieh-Yung Ping, Itaru Kushima, Branko Aleksic
{"title":"Identification of rare mutations of the vasoactive intestinal peptide receptor 2 gene in schizophrenia.","authors":"Chia-Hsiang Chen,&nbsp;Min-Chih Cheng,&nbsp;Tsung-Ming Hu,&nbsp;Lieh-Yung Ping,&nbsp;Itaru Kushima,&nbsp;Branko Aleksic","doi":"10.1097/YPG.0000000000000313","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000313","url":null,"abstract":"<p><strong>Objective: </strong>Studies showed that rare copy number variations (CNVs) encompassing the vasoactive intestinal peptide receptor 2 gene (VIPR2) were associated with schizophrenia, indicating VIPR2 is a risk gene for schizophrenia. We hypothesized that besides CNV, rare pathogenic single-nucleotide variant (SNV) or small insertion/deletion (Indel) of VIPR2 might be present in some patients and contribute to the pathogenesis of schizophrenia.</p><p><strong>Methods: </strong>We performed genome-wide CNV analysis to screen CNV at the VIPR2 locus and targeted sequencing of all the exons of VIPR2 to search for SNV and indel in a sample of patients with chronic schizophrenia from Taiwan.</p><p><strong>Results: </strong>We detected a 230-kb microduplication encompassing the VIPR2 in 1 out of 200 patients. Furthermore, we identified six ultrarare SNVs, including one splicing SNV and five missense SNVs, in 516 patients. In-silico analyses showed these SNVs had a damaging effect on the function of VIPR2.</p><p><strong>Conclusion: </strong>Our findings support the idea that besides CNV, rare pathogenic SNVs of VIPR2 might contribute to the pathogenesis of schizophrenia in some patients.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"32 3","pages":"125-130"},"PeriodicalIF":0.9,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41149376","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
Dementia-related continuing education for rural interprofessional primary health care in Saskatchewan, Canada: perceptions and needs of webinar participants. 加拿大萨斯喀彻温省农村跨专业初级卫生保健中与痴呆症相关的继续教育:网络研讨会参与者的看法和需求。
4区 医学
Psychiatric Genetics Pub Date : 2022-05-23 DOI: 10.1017/S1463423622000226
Julie Kosteniuk, Debra Morgan, Megan E O'Connell, Dallas Seitz, Valerie Elliot, Melanie Bayly, Chelsie Cameron, Amanda Froehlich Chow
{"title":"Dementia-related continuing education for rural interprofessional primary health care in Saskatchewan, Canada: perceptions and needs of webinar participants.","authors":"Julie Kosteniuk, Debra Morgan, Megan E O'Connell, Dallas Seitz, Valerie Elliot, Melanie Bayly, Chelsie Cameron, Amanda Froehlich Chow","doi":"10.1017/S1463423622000226","DOIUrl":"10.1017/S1463423622000226","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"11 1","pages":"e32"},"PeriodicalIF":0.0,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83710496","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
Moderating Influence of Social Support on the Relations between Discrimination and Health via Depression in Latinx Immigrants. 社会支持对拉美裔移民抑郁所带来的歧视与健康之间关系的调节作用。
4区 医学
Psychiatric Genetics Pub Date : 2022-05-01 Epub Date: 2022-02-20 DOI: 10.1037/lat0000200
Annahir N Cariello, Paul B Perrin, Chelsea Derlan Williams, G Antonio Espinoza, Alejandra Morlett Paredes, Oswaldo A Moreno
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