Abstract:
:A fraction of genetic risk to develop schizophrenia may be due to low-frequency variants. This multistep study attempted to find low-frequency variants of high effect at coding regions of eleven schizophrenia susceptibility genes supported by genome-wide association studies (GWAS) and nine genes for the DISC1 interactome, a susceptibility gene-set. During the discovery step, a total of 125 kb per sample were resequenced in 153 schizophrenia patients and 153 controls from Galicia (NW Spain), and the cumulative role of low-frequency variants at a gene or at the DISC1 gene-set were analyzed by burden and variance-based tests. Relevant results were meta-analyzed when appropriate data were available. In addition, case-only putative damaging variants were genotyped in a further 419 cases and 398 controls. The discovery step revealed a protective effect of rare missense variants at NRXN1, a result supported by meta-analysis (OR = 0.67, 95% CI: 0.47-0.94, P = 0.021, based on 3848 patients and 3896 controls from six studies). The follow-up step based on case-only putative damaging variants revealed a promising risk variant at AKAP9. This variant, K873R, reached nominal significance after inclusion of 240 additional Spanish controls from databases. The variant, located in an ADCY2 binding region, is absent from large public databases. Interestingly, GWAS revealed an association between common ADCY2 variants and bipolar disorder, a disorder with considerable genetic overlap with schizophrenia. These data suggest a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation.
journal_name
J Psychiatr Resjournal_title
Journal of psychiatric researchauthors
Suárez-Rama JJ,Arrojo M,Sobrino B,Amigo J,Brenlla J,Agra S,Paz E,Brión M,Carracedo Á,Páramo M,Costas Jdoi
10.1016/j.jpsychires.2015.04.013subject
Has Abstractpub_date
2015-07-01 00:00:00pages
38-44eissn
0022-3956issn
1879-1379pii
S0022-3956(15)00116-8journal_volume
66-67pub_type
杂志文章,meta分析abstract::The neuregulin-1 (NRG1) gene on chromosome 8p has been suggested as a potential susceptibility gene for schizophrenia. The exact way in which genetic variation in NRG1 might impact on this susceptibility for the disorder is a focus of current research. The present study aimed at investigating the possible relationship...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2008.01.009
更新日期:2008-11-01 00:00:00
abstract::Major depressive disorder (MDD) is a severe mental illness leading to long-term disabilities. One of the current challenges in psychiatric research is to develop new approaches to investigate the pathophysiology of MDD and monitor drug response in order to provide better therapeutic strategies to the patients. Since t...
journal_title:Journal of psychiatric research
pub_type: 杂志文章,评审
doi:10.1016/j.jpsychires.2015.09.003
更新日期:2015-11-01 00:00:00
abstract::A number of lines of converging evidence suggest that brain-derived neurotrophic factor (BDNF) may play a role in the onset and treatment of bipolar disorder. We review pertinent data on BDNF from several different areas of preclinical and clinical investigation that suggest novel theoretical and treatment implication...
journal_title:Journal of psychiatric research
pub_type: 杂志文章,评审
doi:10.1016/j.jpsychires.2006.09.009
更新日期:2007-12-01 00:00:00
abstract::In a study designed to assess the effects of short-term food deprivation on cognitive function, a sample of female subjects (N = 21) was tested on a number of measures of cognitive function after three levels of food deprivation (miss one meal, miss two meals or miss all food for 24 h prior to testing) and a condition...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/0022-3956(95)00009-t
更新日期:1995-05-01 00:00:00
abstract:BACKGROUND:Sleep complaints have been linked with Obsessive Compulsive Disorder (OCD), though there is a dearth of research exploring the association between a range of disturbed sleep indicators and obsessive compulsive symptoms (OCS). Two separate studies were conducted to rigorously investigate this relationship in ...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2014.06.021
更新日期:2014-10-01 00:00:00
abstract::The typical reliance on self-report questionnaires in retrospective case-control studies of childhood abuse and psychotic disorders has been criticised, due to the potential for recall bias associated with, amongst other factors, cognitive impairments and detachment from reality, among individuals with psychosis. One ...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2020.02.002
更新日期:2020-04-01 00:00:00
abstract::The concentrations of amino acids in the cerebrospinal fluid (CSF) were measured in pairs of healthy mono- and dizygotic twins. Intraclass correlations were calculated. Genetic and cultural heritabilities were estimated using a path analytical model. CSF levels of glycine, tyrosine and arginine were shown to be influe...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/0022-3956(88)90028-3
更新日期:1988-01-01 00:00:00
abstract::Drop-out is a common phenomenon in clinical trials of drug treatments involving longitudinal assessments for a fixed duration of follow-up. For these trials intent-to-treat (IT) analysis is usually preferred because time effects are seen in practice. The IT analysis mandates that all subjects randomized to a treatment...
journal_title:Journal of psychiatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0022-3956(98)00058-2
更新日期:1999-03-01 00:00:00
abstract::Few studies have assessed the familiality of clinical characteristics in schizophrenia. Therefore, we set out to investigate the familiality of the following characteristics; age of onset, course of disorder, employment status at onset, impairment during disorder, marital status at onset, mode of onset and premorbid f...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/s0022-3956(02)00008-0
更新日期:2002-09-01 00:00:00
abstract::Depression and anxiety are prevalent in patients with heart failure (HF). Reduced ejection fraction (EF) and increased N-terminal-prohormone B-type natriuretic peptide (NT-proBNP) have been shown to be independently associated with depressive symptoms and may therefore increase HF disease progression and mortality. Th...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2018.06.010
更新日期:2018-09-01 00:00:00
abstract::Cannabis is commonly used recreationally for its euphoric and relaxing effects, while its medical use is permitted in several jurisdictions. With only low-quality evidence suggesting anxiolytic effects of cannabis and strong public sentiment surrounding such purported effects, the purpose of this study was to examine ...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2019.01.024
更新日期:2019-04-01 00:00:00
abstract::We performed an updated systematic review and meta-analysis of randomized controlled trials (RCTs) of intramuscular (IM)-olanzapine (OLA-IM) versus controls in agitated patients. The risk ratio, number-needed-to-treat/harm, and standardized mean difference based on a random effects model were calculated. We identified...
journal_title:Journal of psychiatric research
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.jpsychires.2015.07.005
更新日期:2015-09-01 00:00:00
abstract::The weather is arguably one of the most common topics in daily conversation. However, it is also a well-known factor in psychiatric problems worldwide such as depression, where particularly elders and females are prone to the condition. Previous studies have mostly focused on the association between long-term climate/...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2020.02.006
更新日期:2020-04-01 00:00:00
abstract::Neopterin, a byproduct of the tetrahydrobiopterin de novo pathway, is found in increased levels in cerebrospinal fluid and plasma and significantly increases upon damage, infection or during immune system activation. The production of this compound seems almost restricted to the monocyte/macrophage linage cells, in re...
journal_title:Journal of psychiatric research
pub_type: 杂志文章,评审
doi:10.1016/j.jpsychires.2015.10.003
更新日期:2015-12-01 00:00:00
abstract::Recent theoretical and empirical evidence highlights associations between attention-deficit/hyperactivity disorder (ADHD) symptoms and task-unrelated thought, including mind-wandering and rumination. However, it has been hypothesized that sluggish cognitive tempo (SCT), characterized by daydreaming and staring behavio...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2020.01.016
更新日期:2020-04-01 00:00:00
abstract::Existing animal and human research support the causal role of stress in the emergence of anhedonia, and in turn, the influence of anhedonia in social functioning. However, this model has not been tested in relation to psychosis-risk; this literature gap is notable given that both anhedonia and declining social functio...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2021.01.005
更新日期:2021-01-11 00:00:00
abstract:OBJECTIVES:Clinical research projects gather large amounts of data. Typically, information is captured on paper source documents for later transcription to an electronic format, where responses can be checked, and errors, omissions, and inconsistencies can be resolved. These steps contribute delays, cost, and complexit...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2006.07.015
更新日期:2007-11-01 00:00:00
abstract::Studies investigating cortisol secretion in patients with generalized anxiety disorder (GAD) have reported heterogeneous findings. Further, current knowledge on the specificity of endocrine changes for GAD and/or comorbid major depression (MD) is limited. Hence, the current study investigated long-term integrated cort...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2016.09.024
更新日期:2017-01-01 00:00:00
abstract::The lack of comprehensive data on the association between psychiatric and substance use disorders and habitual sleep duration represents a major health information gap. This study examines the 12-month prevalence of mental disorders stratified by duration of sleep. Data were drawn from face-to-face interviews conducte...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2020.02.018
更新日期:2020-05-01 00:00:00
abstract::Schizophrenia is a chronic mental illness associated with several functional impairments. The International Classification of Functioning, Disability and Health (ICF) Core Sets for schizophrenia are shortlists of ICF categories that are relevant for describing the functioning and disability of people suffering from sc...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2018.05.012
更新日期:2018-08-01 00:00:00
abstract::Anorexia nervosa (AN) is a severe mental disorder accompanied by extensive metabolic and endocrine abnormalities. It has been associated with hypercortisolism using short-term measurement methods such as 24 h-urine, saliva, and blood. The aim of this study was to examine whether the proposed hypercortisolism in acutel...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2017.11.010
更新日期:2018-03-01 00:00:00
abstract:BACKGROUND:Patients with posttraumatic stress disorder (PTSD) are at increased risk for adverse consequences from comorbid medical conditions. Nonadherence to medications prescribed to treat those comorbid conditions may help explain this increased risk. We sought to determine the association between PTSD and medicatio...
journal_title:Journal of psychiatric research
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.jpsychires.2018.02.013
更新日期:2018-07-01 00:00:00
abstract::Those exposed to suicide are at increased risk of adverse outcomes including mental illness, impaired social functioning, and fatal and non-fatal suicidal behavior. However, it is unclear how many people are exposed to suicide in the general community. This first meta-analysis of population-based studies aimed to prov...
journal_title:Journal of psychiatric research
pub_type: 杂志文章,meta分析
doi:10.1016/j.jpsychires.2017.01.017
更新日期:2017-05-01 00:00:00
abstract::This is a study of the familial transmission of Primary Major Depressive Disorder in the families of 235 probands with this disorder ascertained as part of the NIMH-CRB Collaborative Depression Program. Eight hundred and twenty-six interviewed first degree relatives and 109 spouses are included. Research Diagnostic Cr...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/0022-3956(87)90112-9
更新日期:1987-01-01 00:00:00
abstract::The use of activity which is carefully planned so as to facilitate change in the patient is a unique characteristic of occupational therapy. Occupational therapy closely resembles the actual living situation more so than any other treatment setting and therefore provides a realistic environment in which the patient ca...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/0022-3956(85)90054-8
更新日期:1985-01-01 00:00:00
abstract:BACKGROUND:Oxytocin is a peptide hormone that influences the integration of social cognition with behavior and affect regulation. Oxytocin also prominently directs the transition of neuronal GABA neurotransmission from excitatory to inhibitory after birth. The oxytocin receptor (OXTR) is linked to schizophrenia, a hete...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2017.11.011
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVE:The requirement in classificatory systems that some impairment from attention-deficit/hyperactivity disorder (ADHD) symptoms starts before 7 years of age (age of onset of impairment criteria - AOC) has been harshly criticized. Although there is evidence that late-onset ADHD is a valid diagnosis, little is kno...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2008.10.001
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVES:Reward system dysfunctions are considered to be a pathophysiological mechanism in schizophrenia. Electrophysiological studies of reward system functions have identified frequency-specific brain networks for the processing of positive (high-beta frequency) and negative (theta frequency) events. Remarkably, mi...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2020.05.031
更新日期:2020-10-01 00:00:00
abstract::Smooth pursuit eye movement (SPEM) performance has been linked to nonvoluntary attentional processes. Amphetamine is a psychotropic drug with documented effects on attentional performance. In order to evaluate the relationship between SPEM performance and amphetamine's attentional effects, SPEM performance was measure...
journal_title:Journal of psychiatric research
pub_type: 临床试验,杂志文章
doi:10.1016/0022-3956(87)90013-6
更新日期:1987-01-01 00:00:00
abstract::Dysfunction of the N-methyl-d-aspartate receptor, which is modulated by excitatory amino acids (EAA), is involved in the pathophysiology of schizophrenia. The effects of antipsychotics on EAA metabolism are uncertain. Positive clinical effects of treatment with antipsychotics were not always associated with changes in...
journal_title:Journal of psychiatric research
pub_type: 杂志文章
doi:10.1016/j.jpsychires.2012.03.015
更新日期:2012-06-01 00:00:00