World Journal of Biological Psychiatry最新文献

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Clinical predictors of standard and accelerated theta burst rTMS treatment response in depression: an analysis from a multicentre RCT.
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-02-25 DOI: 10.1080/15622975.2025.2468240
David Plevin, Elizabeth H X Thomas, Lisa Hahn, Scott Clark, Leo Chen
{"title":"Clinical predictors of standard and accelerated theta burst rTMS treatment response in depression: an analysis from a multicentre RCT.","authors":"David Plevin, Elizabeth H X Thomas, Lisa Hahn, Scott Clark, Leo Chen","doi":"10.1080/15622975.2025.2468240","DOIUrl":"https://doi.org/10.1080/15622975.2025.2468240","url":null,"abstract":"<p><strong>Objectives: </strong>Our group conducted a single-blind, controlled, multi-site trial, wherein participants with treatment-resistant depression were randomised to standard 10 Hz rTMS, applied to the left dorsolateral prefrontal cortex (DLPFC), or accelerated bilateral TBS (aBLTBS), applied sequentially to the right then left DLPFC. We present a secondary analysis of this trial, investigating clinical predictors for treatment response.</p><p><strong>Methods: </strong>Logistic regression analysis explored the relationship between TMS response and, adjusted for baseline depressive symptom severity: suicidality, current episode duration, age, sex, and presence of melancholia and psychosis. The relationship between self-reported past ECT response and current rTMS treatment response was evaluated with McNemar's test.</p><p><strong>Results: </strong>Adjusted response status to aBLTBS, but not standard rTMS, is influenced by duration of current episode (aBLTBS OR 0.9945, <i>p</i> = 0.0417 vs. rTMS OR 0.9973, <i>p</i> = 0.2870). No other differential response predictors were identified.</p><p><strong>Conclusions: </strong>There are no clinically significant differential response predictors to standard rTMS or accelerated TBS treatment protocols. Accelerated TBS or standard rTMS may be effective in treatment-resistant depression, including in patients with previous ECT non-response, and psychosis may lower the odds of treatment response. Given the overall time efficiency in delivering accelerated TBS, this may further strengthen the argument for its broader clinical adoption.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":" ","pages":"1-5"},"PeriodicalIF":3.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143505593","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
Ginkgo biloba extract EGb 761 is safe and effective in the treatment of mild dementia - a meta-analysis of patient subgroups in randomised controlled trials.
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-02-03 DOI: 10.1080/15622975.2024.2446830
Matthias Riepe, Robert Hoerr, Sandra Schlaefke
{"title":"<i>Ginkgo biloba</i> extract EGb 761 is safe and effective in the treatment of mild dementia - a meta-analysis of patient subgroups in randomised controlled trials.","authors":"Matthias Riepe, Robert Hoerr, Sandra Schlaefke","doi":"10.1080/15622975.2024.2446830","DOIUrl":"10.1080/15622975.2024.2446830","url":null,"abstract":"<p><strong>Background: </strong>Mild dementia is distressing for patients and their relatives. Due to its chronic and progressive nature, healthcare systems are at risk of being overwhelmed by the increasing number of affected patients. Thus, there is a need for safe and well-tolerated treatments that can be initiated at the earliest stages.</p><p><strong>Objectives: </strong>This meta-analysis of clinical trials aimed to assess the treatment effects of <i>Ginkgo biloba</i> extract EGb 761 in patients with mild dementia.</p><p><strong>Methods: </strong>Eligible randomised placebo-controlled trials were included in this meta-analysis. Data of patients with mild dementia (defined as the SKT Short Cognitive Performance Test total scores from 9 to 15) were selected.</p><p><strong>Results: </strong>The meta-analysis was performed with pooled data from four eligible trials comprising 782 patients with mild dementia. Treatment with 240 mg EGb 761 daily was significantly superior to placebo in cognition (<i>p</i> = 0.04), global assessment (<i>p</i> = 0.01), activities of daily living (<i>p</i> = 0.01) and quality of life (<i>p</i> = 0.02). Standardised effects were medium to large. The frequency of adverse events was alike in patients treated with EGb 761 and placebo (<i>p</i> = 0.66).</p><p><strong>Conclusions: </strong>The meta-analysis demonstrates that patients with mild dementia benefit from EGb 761 in terms of cognition, activities of daily living, global assessment and quality of life.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":" ","pages":"1-11"},"PeriodicalIF":3.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081818","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
Brain-derived neurotrophic factor levels in morphine-addicted rodents under different exercise protocols: a systematic review and meta-analysis. 不同运动方案下吗啡成瘾啮齿动物脑源性神经营养因子水平的系统回顾和荟萃分析。
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-02-01 Epub Date: 2025-01-19 DOI: 10.1080/15622975.2024.2446838
Lisha Deng, Rui Yang, Baijia Li, Zheng Chu, Yujia Leng, Yonghui Dang
{"title":"Brain-derived neurotrophic factor levels in morphine-addicted rodents under different exercise protocols: a systematic review and meta-analysis.","authors":"Lisha Deng, Rui Yang, Baijia Li, Zheng Chu, Yujia Leng, Yonghui Dang","doi":"10.1080/15622975.2024.2446838","DOIUrl":"10.1080/15622975.2024.2446838","url":null,"abstract":"<p><strong>Objectives: </strong>Exercise might restore morphine-induced behavioural and molecular changes, but related evidence is inconsistent. We conducted a systematic review and meta-analysis of animal studies to elucidate the contribution of brain-derived neurotrophic factor (BDNF) to exercise effects on morphine addiction.</p><p><strong>Methods: </strong>We searched papers published until May 25, 2024, in databases, manually searched related references, screened eligible studies, and extracted relevant data. The risk of bias was assessed using the SYstematic Review Centre for Laboratory animal Experimentation (SYRCLE)'s risk bias tool. Subsequently, we summarised study characteristics, reported risks of bias, and conducted a meta-analysis. Subgroup and sensitivity analyses were also conducted.</p><p><strong>Results: </strong>The meta-analysis showed that exercise increased BDNF levels in morphine-addicted male animals, regardless of the exercise type and intensity. Under morphine addiction, voluntary exercise (running wheel) affected BDNF levels in males, whilst forced exercise (treadmill exercise) did not. Furthermore, different exercise intensities did not affect BDNF levels in males. The sensitivity analysis determined that the results were robust.</p><p><strong>Conclusions: </strong>Exercise increased BDNF levels in male but not in female animals. BDNF level changes might be related to the type of exercise but not its intensity. Therefore, BDNF might serve as a biomarker for the effects of different exercise types.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":"26 2","pages":"92-102"},"PeriodicalIF":3.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014299","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
How difficult is to study the relationship between insomnia, circadian rhythms, inflammation and suicide attempt. 研究失眠、昼夜节律、炎症和自杀企图之间的关系有多么困难。
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-02-01 Epub Date: 2025-01-19 DOI: 10.1080/15622975.2024.2446837
Sérgio André de Souza Júnior, Victor Domingueti Vallim Fonseca, Paulo Victor de Santiago Gonçalves, Deborah Araújo Leitão, Fabio Gomes de Matos E Souza, Luísa Weber Bisol
{"title":"How difficult is to study the relationship between insomnia, circadian rhythms, inflammation and suicide attempt.","authors":"Sérgio André de Souza Júnior, Victor Domingueti Vallim Fonseca, Paulo Victor de Santiago Gonçalves, Deborah Araújo Leitão, Fabio Gomes de Matos E Souza, Luísa Weber Bisol","doi":"10.1080/15622975.2024.2446837","DOIUrl":"https://doi.org/10.1080/15622975.2024.2446837","url":null,"abstract":"","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":"26 2","pages":"116-117"},"PeriodicalIF":3.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014546","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
Mechanism of dexmedetomidine in brain injury of infant rats via the IRE1α/NF-κB/CHOP pathway. 右美托咪定通过IRE1α/NF-κB/CHOP通路对幼龄大鼠脑损伤的影响机制
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-02-01 Epub Date: 2025-01-15 DOI: 10.1080/15622975.2024.2446817
Zhi Wang, Lina Zhang, Ting Wu, Xu Pan, Le Li, Xin Yang, Miao Zhang, Ying Liu
{"title":"Mechanism of dexmedetomidine in brain injury of infant rats via the IRE1α/NF-κB/CHOP pathway.","authors":"Zhi Wang, Lina Zhang, Ting Wu, Xu Pan, Le Li, Xin Yang, Miao Zhang, Ying Liu","doi":"10.1080/15622975.2024.2446817","DOIUrl":"10.1080/15622975.2024.2446817","url":null,"abstract":"<p><strong>Objective: </strong>We investigated the mechanism of Dexmedetomidine (Dex) in infant rats with brain injury.</p><p><strong>Methods: </strong>The infant rats underwent brain injury modelling. The motor function, spatial learning and memory abilities in rats, and the hippocampal CA1 region Nissl body level and apoptosis were evaluated by behavioural tests and histological stainings. Levels of the hippocampal CA1 region p-IRE1α, nuclear/cytoplasmic p65, CHOP, Bax and Bcl-2 proteins were determined by Western blot.</p><p><strong>Results: </strong>Propofol anaesthesia caused brain injury in infant rats. Dex increased the hippocampal CA1 region Nissl body level, abated cell apoptosis, reduced p-IRE1α, ATF6, p-PERK/PERK and CHOP levels, decreased the Bax protein level, elevated the Bcl-2 protein level, and alleviated brain injury in infant rats. After ERS induction and the NF-κB pathway inhibition, the hippocampal CA1 region nuclear/cytoplasmic p65 ratio, CHOP level, and apoptosis were reduced in infant rats with brain injury treated with Dex, while the learning and memory abilities of rats were enhanced.</p><p><strong>Conclusion: </strong>Dex reduced the hippocampal CA1 region cell apoptosis and enhanced learning and memory abilities by inhibiting the ERS-mediated IRE1α/NF-κB/CHOP pathway, thereby alleviating brain injury in infant rats.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":" ","pages":"103-115"},"PeriodicalIF":3.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015085","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
An ALE meta-analysis of the neural evidence of facial emotion processing in autism. 自闭症患者面部情绪加工的神经证据的ALE meta分析。
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-02-01 Epub Date: 2025-01-15 DOI: 10.1080/15622975.2024.2446823
Ava Behrouzi, Elizabeth Valles-Capetillo, Rajesh K Kana
{"title":"An ALE meta-analysis of the neural evidence of facial emotion processing in autism.","authors":"Ava Behrouzi, Elizabeth Valles-Capetillo, Rajesh K Kana","doi":"10.1080/15622975.2024.2446823","DOIUrl":"10.1080/15622975.2024.2446823","url":null,"abstract":"<p><strong>Objective: </strong>Facial emotion recognition is central to successful social interaction. People with autism spectrum disorder (ASD) have difficulties in this area. However, neuroimaging evidence on facial emotion processing in ASD has been diverse. This study aims to identify common and consistent brain activity patterns during facial emotion processing in autism.</p><p><strong>Methods: </strong>Following PRISMA guidelines, 22 fMRI studies (539 ASD, 502 typically developing participants (TD) were included.</p><p><strong>Results: </strong>Both groups showed significant activation in the right fusiform gyrus (FG) and left fusiform face area (FFA). In addition, TD participants showed increased left amygdala activity. Compared to TD, ASD individuals had increased activation in the right cerebellum lobule VI and left secondary visual cortex. Age-based subgroup analysis showed that ASD children showed increased activity in bilateral FG, and ASD adults and TD children in the right FG. Finally, adults from both groups had increased activity in the right FG in the within-group and conjunction analyses.</p><p><strong>Conclusions: </strong>These results suggest that ASD and TD engage core face processing areas similarly while TD may use core and an extended social brain network. Findings of this study underscore the role of fusiform face area in facial emotion processing along with more insights into the neural processing of facial emotions.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":"26 2","pages":"74-91"},"PeriodicalIF":3.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014344","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 mutations found in genes involved in global developmental delay and intellectual disability by whole-exome sequencing, homology modeling, and systems biology.
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-01-24 DOI: 10.1080/15622975.2025.2453198
Nafiseh Moeinifar, Zohreh Hojati
{"title":"Novel mutations found in genes involved in global developmental delay and intellectual disability by whole-exome sequencing, homology modeling, and systems biology.","authors":"Nafiseh Moeinifar, Zohreh Hojati","doi":"10.1080/15622975.2025.2453198","DOIUrl":"https://doi.org/10.1080/15622975.2025.2453198","url":null,"abstract":"<p><strong>Background: </strong>Genes associated with global developmental delay (GDD) and intellectual disability (ID) are increasingly being identified through next-generation sequencing (NGS) technologies. This study aimed to identify novel mutations in GDD/ID phenotypes through whole-exome sequencing (WES) and additional <i>in silico</i> analyses.</p><p><strong>Material and methods: </strong>WES was performed on 27 subjects, among whom 18 were screened for potential novel mutations. <i>In silico</i> analyses included protein-protein interactions (PPIs), gene-miRNA interactions (GMIs), and enrichment analyses. The identified novel variants were further modelled using I-Tasser-MTD and SWISS-MODEL, with structural superimposition performed.</p><p><strong>Results: </strong>Novel mutations were detected in 18 patients, with 10 variants reported for the first time. Among these, three were classified as pathogenic (<i>DNMT1</i>:c.856dup, <i>KCNQ2</i>:c.1635_1636insT, and <i>TMEM94</i>:c.2598_2599insC), and six were likely pathogenic. <i>DNMT1</i> and <i>MRE11</i> were highlighted as key players in PPIs and GMIs. GMIs analysis emphasised the roles of hsa-miR-30a-5p and hsa-miR-185-5p. The top-scoring pathways included the neuronal system (R-HSA-112316, <i>p</i> = 7.73E-04) and negative regulation of the smooth muscle cell apoptotic process (<i>p</i> = 3.37E-06). Homology modelling and superimposition revealed a significant functional loss in the mutated DNMT1 enzyme structure.</p><p><strong>Conclusion: </strong>This study identified 10 novel pathogenic/likely pathogenic variants associated with GDD/ID, supported by clinical findings and <i>in silico</i> analyses focused on <i>DNMT1</i> mutations.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":" ","pages":"1-16"},"PeriodicalIF":3.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034712","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
Effect of antipsychotics on the focal adhesion pathway.
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-01-23 DOI: 10.1080/15622975.2025.2453181
Bruna Panizzutti, Chiara C Bortolasci, Briana Spolding, Srisaiyini Kidnapillai, Timothy Connor, Trang Tt Truong, Zoe Sj Liu, Damián Hernández, Laura Gray, Jee Hyun Kim, Olivia M Dean, Michael Berk, Ken Walder
{"title":"Effect of antipsychotics on the focal adhesion pathway.","authors":"Bruna Panizzutti, Chiara C Bortolasci, Briana Spolding, Srisaiyini Kidnapillai, Timothy Connor, Trang Tt Truong, Zoe Sj Liu, Damián Hernández, Laura Gray, Jee Hyun Kim, Olivia M Dean, Michael Berk, Ken Walder","doi":"10.1080/15622975.2025.2453181","DOIUrl":"https://doi.org/10.1080/15622975.2025.2453181","url":null,"abstract":"<p><p>Focal adhesions and their dynamic nature are essential for various physiological processes, including the formation of neurites, synaptic function and plasticity. Alterations in these processes have been associated with schizophrenia and bipolar disorder.</p><p><strong>Objectives: </strong>This study aimed to explore the impact of pharmacological treatments used for bipolar disorder and schizophrenia on the expression of genes involved in the focal adhesion pathway, addressing a gap in understanding the interaction between medication effects and disease pathophysiology.</p><p><strong>Methods: </strong>NT2-N (neuron-like) cells were exposed to treatment with amisulpride, aripiprazole, chlorpromazine, clozapine, haloperidol, olanzapine, quetiapine, risperidone, or vehicle for 24 h. Genome-wide mRNA expression was analysed using gene set enrichment analysis.</p><p><strong>Results: </strong>The analysis revealed that seven out of the eight drugs widely prescribed for bipolar disorder and schizophrenia downregulate the expression of genes associated with the focal adhesions pathway. Focal adhesion was the pathway with the most negative normalised enrichment score across all treatments.</p><p><strong>Conclusions: </strong>Our results support the hypothesis that focal adhesion pathways may play a role in the pathophysiology of bipolar disorder and schizophrenia. Moreover, the data underscore the importance of differentiating medication effects from disease mechanisms in psychiatric research, a challenge compounded by the medicated state of most study participants.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":" ","pages":"1-7"},"PeriodicalIF":3.0,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025418","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
Gut microbiome-gut brain axis-depression: interconnection. 肠道微生物群-肠道脑轴-抑制:相互联系。
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-01-01 Epub Date: 2024-12-23 DOI: 10.1080/15622975.2024.2436854
Ruhina Afroz Patel, Archana N Panche, Sanjay N Harke
{"title":"Gut microbiome-gut brain axis-depression: interconnection.","authors":"Ruhina Afroz Patel, Archana N Panche, Sanjay N Harke","doi":"10.1080/15622975.2024.2436854","DOIUrl":"10.1080/15622975.2024.2436854","url":null,"abstract":"<p><strong>Objectives: </strong>The relationship between the gut microbiome and mental health, particularly depression, has gained significant attention. This review explores the connection between microbial metabolites, dysbiosis, and depression. The gut microbiome, comprising diverse microorganisms, maintains physiological balance and influences health through the gut-brain axis, a communication pathway between the gut and the central nervous system.</p><p><strong>Methods: </strong>Dysbiosis, an imbalance in the gut microbiome, disrupts this axis and worsens depressive symptoms. Factors like diet, antibiotics, and lifestyle can cause this imbalance, leading to changes in microbial composition, metabolism, and immune responses. This imbalance can induce inflammation, disrupt neurotransmitter regulation, and affect hormonal and epigenetic processes, all linked to depression.</p><p><strong>Results: </strong>Microbial metabolites, such as short-chain fatty acids and neurotransmitters, are key to gut-brain communication, influencing immune regulation and mood. The altered production of these metabolites is associated with depression. While progress has been made in understanding the gut-brain axis, more research is needed to clarify causative relationships and develop new treatments. The emerging field of psychobiotics and microbiome-targeted therapies shows promise for innovative depression treatments by harnessing the gut microbiome's potential.</p><p><strong>Conclusions: </strong>Epigenetic mechanisms, including DNA methylation and histone modifications, are crucial in how the gut microbiota impacts mental health. Understanding these mechanisms offers new prospects for preventing and treating depression through the gut-brain axis.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":" ","pages":"1-36"},"PeriodicalIF":3.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878394","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
Systematic review of genome-wide association studies (GWAS) of epilepsy identifies common risk variants and associated genes. 对癫痫全基因组关联研究 (GWAS) 的系统回顾确定了常见的风险变异和相关基因。
IF 3 4区 医学
World Journal of Biological Psychiatry Pub Date : 2025-01-01 Epub Date: 2024-12-17 DOI: 10.1080/15622975.2024.2436866
S Jacobs, O Wootton, V Ives-Deliperi, L M Tucker, D J Stein, S Dalvie
{"title":"Systematic review of genome-wide association studies (GWAS) of epilepsy identifies common risk variants and associated genes.","authors":"S Jacobs, O Wootton, V Ives-Deliperi, L M Tucker, D J Stein, S Dalvie","doi":"10.1080/15622975.2024.2436866","DOIUrl":"10.1080/15622975.2024.2436866","url":null,"abstract":"<p><strong>Objective: </strong>The aetiology of epilepsy is known to have genetic contributions, yet results from genome-wide association studies (GWAS) have not always been consistent. We undertook a systematic review in order to identify risk variants for epilepsy.</p><p><strong>Methods: </strong>This systematic review was conducted in accordance with the PRISMA protocol. The quality of each of the studies was evaluated using the Q-Genie tool.</p><p><strong>Results: </strong>A total of 79 SNPs, located in 64 genes, were significantly associated with epilepsy at the genome-wide level. The majority of the variants were intronic and intergenic, with <i>SCN1A</i> as the most widely reported gene involved across studies. Two SNPs, rs2292096 and rs149212747, linked respectively to focal epilepsy (FE) and status epilepticus, were exclusively identified in individuals of Asian ancestry, alongside an Asian-exclusive synonymous variant (rs3782886) in <i>BRAP</i> and a missense variant (rs671) in <i>ALDH2</i>.</p><p><strong>Conclusions: </strong>Genes, which encode for ion and transport channels, transcription factors, ubiquitin ligase and transporter proteins were identified as potentially involved in the aetiology of epilepsy. The review identified one missense and one synonymous variant which deserve further exploration. Future research should include populations of more diverse ancestries, which may reveal unique epilepsy-associated genes.</p>","PeriodicalId":49358,"journal":{"name":"World Journal of Biological Psychiatry","volume":" ","pages":"37-48"},"PeriodicalIF":3.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840082","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
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