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Reduction of N-acetyl aspartate (NAA) in association with relapse in early-stage psychosis: a 7-Tesla MRS study. N-乙酰天冬氨酸(NAA)的减少与早期精神病复发有关:一项 7-Tesla MRS 研究。
IF 3 Q2 PSYCHIATRY Pub Date : 2024-03-01 DOI: 10.1038/s41537-024-00451-7
Marina Mihaljevic, Yu-Ho Chang, Ashley M Witmer, Jennifer M Coughlin, David J Schretlen, Peter B Barker, Kun Yang, Akira Sawa

Understanding the biological underpinning of relapse could improve the outcomes of patients with psychosis. Relapse is elicited by multiple reasons/triggers, but the consequence frequently accompanies deteriorations of brain function, leading to poor prognosis. Structural brain imaging studies have recently been pioneered to address this question, but a lack of molecular investigations is a knowledge gap. Following a criterion used for recent publications by others, we defined the experiences of relapse by hospitalization(s) due to psychotic exacerbation. We hypothesized that relapse-associated molecules might be underscored from the neurometabolites whose levels have been different between overall patients with early-stage psychosis and healthy subjects in our previous report. In the present study, we observed a significant decrease in the levels of N-acetyl aspartate in the anterior cingulate cortex and thalamus in patients who experienced relapse compared to patients who did not. Altogether, decreased N-acetyl aspartate levels may indicate relapse-associated deterioration of neuronal networks in patients.

了解复发的生物学基础可以改善精神病患者的预后。复发是由多种原因/诱因引起的,但其后果往往伴随着大脑功能的恶化,导致预后不良。最近,大脑结构成像研究已成为解决这一问题的先驱,但分子研究的缺乏却是一个知识空白。根据其他人最近发表的文章所采用的标准,我们将精神病恶化导致的住院经历定义为复发。我们假设,与复发相关的分子可能来自神经代谢物,在我们之前的报告中,早期精神病患者与健康人之间的神经代谢物水平存在差异。在本研究中,我们观察到,与未复发的患者相比,复发患者前扣带回皮层和丘脑中的 N-乙酰天冬氨酸水平明显下降。总之,N-乙酰天冬氨酸水平的降低可能表明患者的神经元网络因复发而恶化。
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引用次数: 0
Real-world predictors of relapse in patients with schizophrenia and schizoaffective disorder in a large health system. 大型医疗系统中精神分裂症和情感分裂症患者复发的现实预测因素。
Pub Date : 2024-02-29 DOI: 10.1038/s41537-024-00448-2
Anne Rivelli, Veronica Fitzpatrick, Michael Nelson, Kimberly Laubmeier, Courtney Zeni, Srikrishna Mylavarapu

Schizophrenia is often characterized by recurring relapses, which are associated with a substantial clinical and economic burden. Early identification of individuals at the highest risk for relapse in real-world treatment settings could help improve outcomes and reduce healthcare costs. Prior work has identified a few consistent predictors of relapse in schizophrenia, however, studies to date have been limited to insurance claims data or small patient populations. Thus, this study used a large sample of health systems electronic health record (EHR) data to analyze relationships between patient-level factors and relapse and model a set of factors that can be used to identify the increased prevalence of relapse, a severe and preventable reality of schizophrenia. This retrospective, observational cohort study utilized EHR data extracted from the largest Midwestern U.S. non-profit healthcare system to identify predictors of relapse. The study included patients with a diagnosis of schizophrenia (ICD-10 F20) or schizoaffective disorder (ICD-10 F25) who were treated within the system between October 15, 2016, and December 31, 2021, and received care for at least 12 months. A relapse episode was defined as an emergency room or inpatient encounter with a pre-determined behavioral health-related ICD code. Patients' baseline characteristics, comorbidities and healthcare utilization were described. Modified log-Poisson regression (i.e. log Poisson regression with a robust variance estimation) analyses were utilized to estimate the prevalence of relapse across patient characteristics, comorbidities and healthcare utilization and to ultimately identify an adjusted model predicting relapse. Among the 8119 unique patients included in the study, 2478 (30.52%) experienced relapse and 5641 (69.48%) experienced no relapse. Patients were primarily male (54.72%), White Non-Hispanic or Latino (54.23%), with Medicare insurance (51.40%), and had baseline diagnoses of substance use (19.24%), overweight/obesity/weight gain (13.06%), extrapyramidal symptoms (48.00%), lipid metabolism disorder (30.66%), hypertension (26.85%), and diabetes (19.08%). Many differences in patient characteristics, baseline comorbidities, and utilization were revealed between patients who relapsed and patients who did not relapse. Through model building, the final adjusted model with all significant predictors of relapse included the following variables: insurance, age, race/ethnicity, substance use diagnosis, extrapyramidal symptoms, number of emergency room encounters, behavioral health inpatient encounters, prior relapses episodes, and long-acting injectable prescriptions written. Prevention of relapse is a priority in schizophrenia care. Challenges related to historical health record data have limited the knowledge of real-world predictors of relapse. This study offers a set of variables that could conceivably be used to construct algorithms or models to proactively monitor demographic,

精神分裂症通常以反复复发为特征,而复发与巨大的临床和经济负担相关。在实际治疗环境中及早识别复发风险最高的患者,有助于改善治疗效果和降低医疗成本。之前的研究发现了一些精神分裂症复发的一致预测因素,但迄今为止的研究仅限于保险理赔数据或小规模患者群体。因此,本研究利用医疗系统电子病历(EHR)的大样本数据分析了患者层面的因素与复发之间的关系,并建立了一套可用于识别复发率增加的因素模型,复发是精神分裂症的一个严重且可预防的现实问题。这项回顾性观察队列研究利用从美国中西部最大的非营利性医疗保健系统中提取的电子病历数据来确定复发的预测因素。研究对象包括被诊断为精神分裂症(ICD-10 F20)或分裂情感障碍(ICD-10 F25)的患者,这些患者在 2016 年 10 月 15 日至 2021 年 12 月 31 日期间在该系统内接受治疗,并接受了至少 12 个月的护理。复发事件被定义为急诊室或住院病人遇到预先确定的行为健康相关 ICD 代码。对患者的基线特征、合并症和医疗保健使用情况进行了描述。利用修正的对数泊松回归(即具有稳健方差估计的对数泊松回归)分析来估计不同患者特征、合并症和医疗保健使用情况下的复发率,并最终确定预测复发的调整模型。在纳入研究的 8119 名患者中,有 2478 人(30.52%)复发,5641 人(69.48%)未复发。患者主要为男性(54.72%)、非西班牙裔或拉丁裔白人(54.23%)、有医疗保险(51.40%),基线诊断为药物使用(19.24%)、超重/肥胖/体重增加(13.06%)、锥体外系症状(48.00%)、脂代谢紊乱(30.66%)、高血压(26.85%)和糖尿病(19.08%)。复发患者与未复发患者在患者特征、基线合并症和使用情况方面存在许多差异。通过建立模型,最终的调整模型包含了所有重要的复发预测因素,其中包括以下变量:保险、年龄、种族/民族、药物使用诊断、锥体外系症状、急诊就诊次数、行为健康住院就诊次数、之前的复发发作以及开具的长效注射剂处方。预防复发是精神分裂症治疗的首要任务。与历史健康记录数据相关的挑战限制了人们对现实世界中复发预测因素的了解。本研究提供了一组变量,可用于构建算法或模型,以主动监测使患者面临复发风险的人口统计学、合并症、药物治疗和医疗保健使用参数,并修改护理方法以避免未来复发。
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引用次数: 0
Parkinson's disease and schizophrenia interactomes contain temporally distinct gene clusters underlying comorbid mechanisms and unique disease processes. 帕金森病和精神分裂症的交互基因组包含时间上截然不同的基因簇,这些基因簇是合并症机制和独特疾病过程的基础。
Pub Date : 2024-02-27 DOI: 10.1038/s41537-024-00439-3
Kalyani B Karunakaran, Sanjeev Jain, Samir K Brahmachari, N Balakrishnan, Madhavi K Ganapathiraju

Genome-wide association studies suggest significant overlaps in Parkinson's disease (PD) and schizophrenia (SZ) risks, but the underlying mechanisms remain elusive. The protein-protein interaction network ('interactome') plays a crucial role in PD and SZ and can incorporate their spatiotemporal specificities. Therefore, to study the linked biology of PD and SZ, we compiled PD- and SZ-associated genes from the DisGeNET database, and constructed their interactomes using BioGRID and HPRD. We examined the interactomes using clustering and enrichment analyses, in conjunction with the transcriptomic data of 26 brain regions spanning foetal stages to adulthood available in the BrainSpan Atlas. PD and SZ interactomes formed four gene clusters with distinct temporal identities (Disease Gene Networks or 'DGNs'1-4). DGN1 had unique SZ interactome genes highly expressed across developmental stages, corresponding to a neurodevelopmental SZ subtype. DGN2, containing unique SZ interactome genes expressed from early infancy to adulthood, correlated with an inflammation-driven SZ subtype and adult SZ risk. DGN3 contained unique PD interactome genes expressed in late infancy, early and late childhood, and adulthood, and involved in mitochondrial pathways. DGN4, containing prenatally-expressed genes common to both the interactomes, involved in stem cell pluripotency and overlapping with the interactome of 22q11 deletion syndrome (comorbid psychosis and Parkinsonism), potentially regulates neurodevelopmental mechanisms in PD-SZ comorbidity. Our findings suggest that disrupted neurodevelopment (regulated by DGN4) could expose risk windows in PD and SZ, later elevating disease risk through inflammation (DGN2). Alternatively, variant clustering in DGNs may produce disease subtypes, e.g., PD-SZ comorbidity with DGN4, and early/late-onset SZ with DGN1/DGN2.

全基因组关联研究表明,帕金森病(PD)和精神分裂症(SZ)的发病风险存在明显的重叠,但其潜在机制仍然难以捉摸。蛋白质-蛋白质相互作用网络("相互作用组")在帕金森病和精神分裂症中起着至关重要的作用,并能结合它们的时空特异性。因此,为了研究 PD 和 SZ 的关联生物学,我们从 DisGeNET 数据库中汇编了 PD 和 SZ 相关基因,并使用 BioGRID 和 HPRD 构建了它们的相互作用组。我们利用聚类分析和富集分析,结合 BrainSpan Atlas 提供的从胎儿期到成年期的 26 个脑区的转录组数据,对相互作用组进行了研究。PD和SZ相互作用组形成了四个具有不同时间特征的基因簇(疾病基因网络或 "DGNs "1-4)。DGN1 具有独特的 SZ 相互作用组基因,这些基因在各个发育阶段都高度表达,与神经发育性 SZ 亚型相对应。DGN2包含从婴儿期到成年期表达的独特的SZ相互作用基因组,与炎症驱动的SZ亚型和成年SZ风险相关。DGN3 包含在婴儿晚期、儿童早期和晚期以及成年期表达的独特的帕金森病交互组基因,涉及线粒体通路。DGN4包含两个相互作用组共同的产前表达基因,涉及干细胞多能性,并与22q11缺失综合征(合并精神病和帕金森病)的相互作用组重叠,可能调节PD-SZ合并症的神经发育机制。我们的研究结果表明,神经发育紊乱(受 DGN4 的调控)可能会暴露出帕金森病和 SZ 的风险窗口,随后通过炎症(DGN2)升高疾病风险。另外,DGNs中的变异集群可能会产生疾病亚型,例如,PD-SZ合并症与DGN4,早发/迟发SZ与DGN1/DGN2。
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引用次数: 0
Linking childhood trauma to the psychopathology of schizophrenia: the role of oxytocin. 将童年创伤与精神分裂症的精神病理学联系起来:催产素的作用。
Pub Date : 2024-02-22 DOI: 10.1038/s41537-024-00433-9
Yuan-Jung Chen, Mong-Liang Lu, Yi-Hang Chiu, Chenyi Chen, Vitor Hugo Jesus Santos, Kah Kheng Goh

Childhood trauma has been linked to schizophrenia, but underlying biological mechanisms remain elusive. This study explored the potential role of plasma oxytocin as a mediator in the relationship between childhood trauma and the psychopathology of schizophrenia. 160 patients with schizophrenia and 80 age- and sex-matched healthy controls were assessed for childhood trauma experiences using the Childhood Trauma Questionnaire and structured interviews. Psychopathology was evaluated using the Positive and Negative Syndrome Scale and plasma oxytocin levels were measured. Results showed that patients with schizophrenia had lower oxytocin levels and higher childhood trauma scores than healthy controls. There was a significant correlation between childhood trauma scores and psychopathology, with plasma oxytocin levels being inversely associated with psychopathology, except for positive symptoms. Hierarchical regression analysis indicated that both childhood trauma scores and plasma oxytocin levels significantly predicted psychopathology. Plasma oxytocin levels partially mediated the relationship between childhood trauma and schizophrenia psychopathology. This study underscores the potential role of oxytocin in bridging the gap between childhood trauma and schizophrenia.

童年创伤与精神分裂症有关联,但其潜在的生物学机制仍然难以捉摸。本研究探讨了血浆催产素在童年创伤与精神分裂症精神病理学之间的潜在中介作用。研究人员使用童年创伤问卷和结构化访谈对 160 名精神分裂症患者和 80 名年龄和性别匹配的健康对照者的童年创伤经历进行了评估。心理病理学采用阳性和阴性综合量表进行评估,并测量血浆催产素水平。结果显示,与健康对照组相比,精神分裂症患者的催产素水平较低,童年创伤得分较高。童年创伤评分与精神病理学之间存在明显的相关性,除阳性症状外,血浆催产素水平与精神病理学成反比。层次回归分析表明,童年创伤得分和血浆催产素水平都能显著预测精神病理学。血浆催产素水平在一定程度上介导了童年创伤与精神分裂症精神病理学之间的关系。这项研究强调了催产素在弥合童年创伤与精神分裂症之间的潜在作用。
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引用次数: 0
Polygenic effects on brain functional endophenotype for deficit and non-deficit schizophrenia. 多基因对缺陷型和非缺陷型精神分裂症大脑功能内表型的影响。
Pub Date : 2024-02-16 DOI: 10.1038/s41537-024-00432-w
Jin Fang, Yiding Lv, Yingying Xie, Xiaowei Tang, Xiaobin Zhang, Xiang Wang, Miao Yu, Chao Zhou, Wen Qin, Xiangrong Zhang

Deficit schizophrenia (DS) is a subtype of schizophrenia (SCZ). The polygenic effects on the neuroimaging alterations in DS still remain unknown. This study aims to calculate the polygenic risk scores for schizophrenia (PRS-SCZ) in DS, and further explores the potential associations with functional features of brain. PRS-SCZ was calculated according to the Whole Exome sequencing and Genome-wide association studies (GWAS). Resting-state fMRI, as well as biochemical features and neurocognitive data were obtained from 33 DS, 47 NDS and 41 HCs, and association studies of genetic risk with neuroimaging were performed in this sample. The analyses of amplitude of low-frequency fluctuation (ALFF), regional homogeneity (ReHo) and functional connectivity (FC) were performed to detect the functional alterations between DS and NDS. In addition, correlation analysis was used to investigate the relationships between functional features (ALFF, ReHo, FC) and PRS-SCZ. The PRS-SCZ of DS was significantly lower than that in NDS and HC. Compared to NDS, there was a significant increase in the ALFF of left inferior temporal gyrus (ITG.L) and left inferior frontal gyrus (IFG.L) and a significant decrease in the ALFF of right precuneus (PCUN.R) and ReHo of right middle frontal gyrus (MFG.R) in DS. FCs were widely changed between DS and NDS, mainly concentrated in default mode network, including ITG, PCUN and angular gyrus (ANG). Correlation analysis revealed that the ALFF of left ITG, the ReHo of right middle frontal gyrus, the FC value between insula and ANG, left ITG and right corpus callosum, left ITG and right PCUN, as well as the scores of Trail Making Test-B, were associated with PRS-SCZ in DS. The present study demonstrated the differential polygenic effects on functional changes of brain in DS and NDS, providing a potential neuroimaging-genetic perspective for the pathogenesis of schizophrenia.

缺陷型精神分裂症(DS)是精神分裂症(SCZ)的一种亚型。多基因对缺陷型精神分裂症神经影像学改变的影响仍然未知。本研究旨在计算缺陷型精神分裂症的多基因风险评分(PRS-SCZ),并进一步探讨其与大脑功能特征的潜在关联。PRS-SCZ是根据全外显子组测序和全基因组关联研究(GWAS)计算得出的。研究获得了 33 名 DS、47 名 NDS 和 41 名 HC 的静息态 fMRI 以及生化特征和神经认知数据,并在这些样本中进行了遗传风险与神经影像学的关联研究。研究人员对低频波动幅度(ALFF)、区域同质性(ReHo)和功能连接性(FC)进行了分析,以检测DS和NDS之间的功能改变。此外,研究人员还使用相关性分析来探讨功能特征(ALFF、ReHo和FC)与PRS-SCZ之间的关系。DS的PRS-SCZ明显低于NDS和HC。与NDS相比,DS左侧颞下回(ITG.L)和左侧额下回(IFG.L)的ALFF显著增加,右侧楔前回(PCUN.R)的ALFF和右侧额中回(MFG.R)的ReHo显著减少。FCs在DS和NDS之间发生了广泛变化,主要集中在默认模式网络,包括ITG、PCUN和角回(ANG)。相关分析表明,左侧ITG的ALFF、右侧额中回的ReHo、脑岛与ANG、左侧ITG与右侧胼胝体、左侧ITG与右侧PCUN的FC值以及Trail Making Test-B的得分均与DS的PRS-SCZ相关。本研究证明了多基因对 DS 和 NDS 脑功能变化的不同影响,为精神分裂症的发病机制提供了一个潜在的神经影像遗传学视角。
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引用次数: 0
Are the results of open randomised controlled trials comparing antipsychotic drugs in schizophrenia biased? Exploratory meta- and subgroup analysis. 比较精神分裂症抗精神病药物的开放性随机对照试验结果是否存在偏差?探索性元分析和亚组分析。
Pub Date : 2024-02-15 DOI: 10.1038/s41537-024-00442-8
Stefan Leucht, Spyridon Siafis, Johannes Schneider-Thoma, Aran Tajika, Josef Priller, John M Davis, Toshi A Furukawa

A recent meta-epidemiological study did not reveal major differences between the results of blinded and open randomised-controlled trials (RCTs). Fewer patients may consent to double-blind RCTs than to open RCTs, compromising generalisability, making this question very important. However, the issue has not been addressed in schizophrenia. We used a database of randomised, acute-phase antipsychotic drug trials. Whenever at least one open and one blinded RCT was available for a comparison of two drugs, we contrasted the results by random-effects meta-analysis with subgroup tests. The primary outcome was overall symptoms as measured by the Positive and Negative Syndrome Scale, supplemented by seven secondary efficacy and side-effect outcomes. We also examined whether open RCTs were biased in favour of more recently introduced antipsychotics, less efficacious or more prone to side-effects antipsychotics, and pharmaceutical sponsors. 183 RCTs (155 blinded and 28 open) with 34715 participants comparing two active drugs were available. The results did not suggest general differences between open and blinded RCTs, which examined two active drugs. Only 12 out of 122 subgroup tests had a p-value below 0.1, four below 0.05, and if a Bonferroni correction for multiple tests had been applied, only one would have been significant. There were some exceptions which, however, did not always confirm the originally hypothesized direction of bias. Due to the relatively small number of open RCTs, our analysis is exploratory, but this fundamental question should be given more scientific attention. Currently, open RCTs should be excluded from meta-analyses, at least in sensitivity analyses.

最近的一项荟萃流行病学研究显示,盲法随机对照试验(RCT)和开放式随机对照试验(RCT)的结果并无重大差异。与开放式随机对照试验相比,同意接受双盲随机对照试验的患者可能更少,从而影响了试验的普遍性,因此这个问题非常重要。然而,这一问题在精神分裂症中尚未得到解决。我们使用了一个急性期抗精神病药物随机试验数据库。只要有至少一项开放性和一项盲法 RCT 可用于两种药物的比较,我们就会通过随机效应荟萃分析和亚组检验对结果进行对比。研究的主要结果是以正负综合征量表(Positive and Negative Syndrome Scale)测量的总体症状,并辅以七项次要疗效和副作用结果。我们还研究了开放性 RCT 是否偏向于新近推出的抗精神病药物、疗效较差或更易产生副作用的抗精神病药物以及药品赞助商。共有 183 项 RCT(155 项盲法 RCT 和 28 项开放式 RCT),34715 名参与者参与了两种活性药物的比较。结果表明,对两种活性药物进行研究的开放式和盲法 RCT 之间没有普遍差异。在 122 项分组测试中,只有 12 项测试的 p 值低于 0.1,4 项低于 0.05,如果对多重测试进行 Bonferroni 校正,只有一项测试具有显著性。不过,也有一些例外情况,并不总是证实最初假设的偏差方向。由于开放性 RCT 的数量相对较少,我们的分析是探索性的,但这一基本问题应得到更多的科学关注。目前,至少在敏感性分析中,荟萃分析应排除开放性 RCT。
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引用次数: 0
A diagnostic model based on bioinformatics and machine learning to differentiate bipolar disorder from schizophrenia and major depressive disorder. 基于生物信息学和机器学习的诊断模型,用于区分双相情感障碍与精神分裂症和重度抑郁症。
IF 3 Q2 PSYCHIATRY Pub Date : 2024-02-14 DOI: 10.1038/s41537-023-00417-1
Jing Shen, Chenxu Xiao, Xiwen Qiao, Qichen Zhu, Hanfei Yan, Julong Pan, Yu Feng

Bipolar disorder (BD) showed the highest suicide rate of all psychiatric disorders, and its underlying causative genes and effective treatments remain unclear. During diagnosis, BD is often confused with schizophrenia (SC) and major depressive disorder (MDD), due to which patients may receive inadequate or inappropriate treatment, which is detrimental to their prognosis. This study aims to establish a diagnostic model to distinguish BD from SC and MDD in multiple public datasets through bioinformatics and machine learning and to provide new ideas for diagnosing BD in the future. Three brain tissue datasets containing BD, SC, and MDD were chosen from the Gene Expression Omnibus database (GEO), and two peripheral blood datasets were selected for validation. Linear Models for Microarray Data (Limma) analysis was carried out to identify differentially expressed genes (DEGs). Functional enrichment analysis and machine learning were utilized to identify. Least absolute shrinkage and selection operator (LASSO) regression was employed for identifying candidate immune-associated central genes, constructing protein-protein interaction networks (PPI), building artificial neural networks (ANN) for validation, and plotting receiver operating characteristic curve (ROC curve) for differentiating BD from SC and MDD and creating immune cell infiltration to study immune cell dysregulation in the three diseases. RBM10 was obtained as a candidate gene to distinguish BD from SC. Five candidate genes (LYPD1, HMBS, HEBP2, SETD3, and ECM2) were obtained to distinguish BD from MDD. The validation was performed by ANN, and ROC curves were plotted for diagnostic value assessment. The outcomes exhibited the prediction model to have a promising diagnostic value. In the immune infiltration analysis, Naive B, Resting NK, and Activated Mast Cells were found to be substantially different between BD and SC. Naive B and Memory B cells were prominently variant between BD and MDD. In this study, RBM10 was found as a candidate gene to distinguish BD from SC; LYPD1, HMBS, HEBP2, SETD3, and ECM2 serve as five candidate genes to distinguish BD from MDD. The results obtained from the ANN network showed that these candidate genes could perfectly distinguish BD from SC and MDD (76.923% and 81.538%, respectively).

躁郁症(BD)是所有精神疾病中自杀率最高的一种,其潜在的致病基因和有效的治疗方法仍不明确。在诊断过程中,双相情感障碍常常与精神分裂症(SC)和重度抑郁症(MDD)混淆,因此患者可能会接受不充分或不适当的治疗,这对他们的预后不利。本研究旨在通过生物信息学和机器学习建立一个诊断模型,在多个公共数据集中区分BD与SC和MDD,为未来诊断BD提供新思路。研究人员从基因表达总库(GEO)中选取了包含BD、SC和MDD的三个脑组织数据集,并选取了两个外周血数据集进行验证。对微阵列数据进行线性模型(Limma)分析,以确定差异表达基因(DEGs)。利用功能富集分析和机器学习进行识别。利用最小绝对收缩和选择算子(LASSO)回归确定候选免疫相关中心基因,构建蛋白质-蛋白质相互作用网络(PPI),建立人工神经网络(ANN)进行验证,绘制接收者操作特征曲线(ROC曲线)以区分BD与SC和MDD,并创建免疫细胞浸润以研究这三种疾病中的免疫细胞失调。RBM10 被认为是区分 BD 和 SC 的候选基因。五个候选基因(LYPD1、HMBS、HEBP2、SETD3 和 ECM2)用于区分 BD 和 MDD。利用 ANN 进行了验证,并绘制了 ROC 曲线以评估诊断价值。结果显示预测模型具有良好的诊断价值。在免疫浸润分析中,发现 BD 和 SC 之间的 Naive B 细胞、静息 NK 细胞和活化肥大细胞有很大差异。在 BD 和 MDD 之间,Naive B 细胞和记忆 B 细胞有显著差异。本研究发现,RBM10 是区分 BD 和 SC 的候选基因;LYPD1、HMBS、HEBP2、SETD3 和 ECM2 是区分 BD 和 MDD 的五个候选基因。ANN 网络得出的结果表明,这些候选基因可以完美地区分 BD 与 SC 和 MDD(分别为 76.923% 和 81.538%)。
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引用次数: 0
Dysfunctional attributions of success as a distinct feature of amotivation. 功能失调的成功归因是非智力因素的一个明显特征。
Pub Date : 2024-02-12 DOI: 10.1038/s41537-024-00441-9
Alisa L A Schormann, Katja Butschbach, Tania M Lincoln, Marcel Riehle

We examined the association between causal attributions and self-reported motivational negative symptoms (amotivation) in a German online community sample (n = 251). Bivariate correlations revealed significant associations between amotivation and attribution of success to external, variable, and specific causes. No associations between amotivation and failure attributions were found. Our data suggest that demotivational causal attributions of success could be a feature of amotivation and a promising target for research and intervention.

我们研究了德国在线社区样本(n = 251)中因果归因与自我报告的动机消极症状(厌学)之间的关联。双变量相关性显示,非积极性与成功归因于外部、可变和特定原因之间存在显著关联。没有发现消极动机与失败归因之间存在关联。我们的数据表明,对成功的消极因果归因可能是学习动机缺乏的一个特征,也是一个有希望的研究和干预目标。
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引用次数: 0
Association study of the complement component C4 gene and suicide risk in schizophrenia. 补体成分 C4 基因与精神分裂症自杀风险的关联研究。
Pub Date : 2024-02-10 DOI: 10.1038/s41537-024-00440-w
Mahbod Ebrahimi, Kowsar Teymouri, Cheng C Chen, Ayeshah G Mohiuddin, Jennie G Pouget, Vanessa F Goncalves, Arun K Tiwari, Clement C Zai, James L Kennedy

Schizophrenia is a severe mental illness and a major risk factor for suicide, with approximately 50% of schizophrenia patients attempting and 10% dying from suicide. Although genetic components play a significant role in schizophrenia risk, the underlying genetic risk factors for suicide are poorly understood. The complement component C4 gene, an immune gene involved in the innate immune system and located in the major histocompatibility complex (MHC) region, has been identified to be strongly associated with schizophrenia risk. In addition, recent findings have also suggested that the MHC region has been associated with suicide risk across disorders, making C4 a potential candidate of interest for studying suicidality in schizophrenia patients. Despite growing interest in investigating the association between the C4 gene and schizophrenia, to our knowledge, no work has been done to examine the potential of C4 variants as suicide risk factors in patients with schizophrenia. In this study, we investigated the association between different C4 copy number variants and predicted C4 brain expression with suicidal outcomes (suicide attempts/suicidal ideation). We directly genotyped 434 schizophrenia patients to determine their C4A and C4B copy number variants. We found the C4AS copy number to be marginally and negatively associated with suicide risk, potentially being protective against suicide attempts (OR = 0.49; p = 0.05) and suicidal ideation (OR = 0.65; p = 0.07). Furthermore, sex-stratified analyses revealed that there are no significant differences between males and females. Our preliminary findings encourage additional studies of C4 and potential immune dysregulation in suicide.

精神分裂症是一种严重的精神疾病,也是自杀的主要风险因素,约有 50%的精神分裂症患者试图自杀,10%的患者死于自杀。虽然遗传因素在精神分裂症风险中扮演着重要角色,但人们对自杀的潜在遗传风险因素却知之甚少。补体成分 C4 基因是一种参与先天性免疫系统的免疫基因,位于主要组织相容性复合体(MHC)区域,已被确认与精神分裂症风险密切相关。此外,最近的研究结果还表明,MHC 区域与各种疾病的自杀风险都有关联,这使得 C4 成为研究精神分裂症患者自杀倾向的潜在候选基因。尽管研究 C4 基因与精神分裂症之间关系的兴趣与日俱增,但据我们所知,还没有任何研究将 C4 基因变异作为精神分裂症患者自杀风险因素的可能性。在这项研究中,我们调查了不同的 C4 拷贝数变异和预测的 C4 大脑表达与自杀结果(自杀未遂/自杀意念)之间的关联。我们直接对 434 名精神分裂症患者进行了基因分型,以确定他们的 C4A 和 C4B 拷贝数变异。我们发现,C4AS拷贝数与自杀风险呈微弱负相关,对自杀未遂(OR = 0.49; p = 0.05)和自杀意念(OR = 0.65; p = 0.07)具有潜在保护作用。此外,性别分层分析表明,男性和女性之间没有显著差异。我们的初步研究结果鼓励对 C4 和自杀中潜在的免疫失调进行更多的研究。
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引用次数: 0
Author Correction: OXTR polymorphisms associated with severity and treatment responses of schizophrenia. 作者更正:与精神分裂症严重程度和治疗反应相关的 OXTR 多态性。
Pub Date : 2024-02-03 DOI: 10.1038/s41537-024-00436-6
Xue Lv, Yue-Sen Hou, Zhao-Hui Zhang, Wei-Hua Yue
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引用次数: 0
期刊
Schizophrenia (Heidelberg, Germany)
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