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公共数据库临床研究Neurology

Proximity to Water Pollutant Facilities and Risk of Incident Progressive Supranuclear Palsy: Nested Case-Control Study of the UK Biobank.

Charlie Weige Zhao、Christopher D Stephen、Marian L Dale 等DOI: 10.1212/wnl.0000000000218750
UK Biobank罕见病风险模型老年队列研究
暂无引用数据

英国生物银行前瞻性队列嵌套病例对照研究比较221例新发进行性核上性麻痹（PSP）患者（平均年龄63.0岁，女性41.2%）与2249名年龄、性别匹配对照，依据基线住址与欧洲污染物释放和转移登记册所列设施的距离评估暴露。经错误发现率校正后，住址靠近排放重金属（OR 1.38，95%CI 1.03–1.85）、农药（OR 1.66，95%CI 1.12–2.46）、其他有机污染物（OR 1.52，95%CI 1.13–2.04）及其他无机污染物（OR 1.60，95%CI 1.19–2.15）的设施与新发PSP风险升高相关；风险随距离增大（5–10 km）呈线性下降，居住超过40年者重金属及有机、无机污染物相关风险升高，较短居住时间未见此关联。结论认为，住宅邻近排放水污染物的设施与新发PSP相关，可能存在距离依赖和持续时间依赖关系，提示环境水污染物或参与PSP发病。

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完整作者

Charlie Weige Zhao、Christopher D Stephen、Marian L Dale、Alexander Pantelyat、Maria Carmela Tartaglia、Ruth B Schneider、David G Coughlin、Federico Rodriguez-Porcel、Tao Xie、Burton Scott、Douglas Gunzler、Lawrence I Golbe、James B Rowe、Irene Litvan、Zoltan Mari、Anne-Marie A Wills

作者机构

  • Department of Neurology, Mass General Brigham, Boston, MA.
  • Harvard Medical School, Boston, MA.
  • Department of Neurology, Oregon Health and Science University, Portland.
  • Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Ontario, Canada.
  • Memory Cinic, University Health Network, Toronto, Ontario, Canada.
  • Department of Neurology and Center for Health & Technology, University of Rochester, NY.
  • Department of Neurosciences, University of California San Diego.
  • Department of Neurology, Medical University of South Carolina, Charleston.
  • Department of Neurology, University of Chicago Medicine, IL.
  • Duke University, Durham, NC.
  • Case Western Reserve University, Cleveland, OH.
  • MetroHealth System, Cleveland, OH.
  • Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.
  • CurePSP Inc., New York, NY.
  • Department of Clinical Neurosciences, MRC Cognition and Brain Sciences Unit, Cambridge, United Kingdom.
  • Cambridge University Hospitals NHS Trust, University of Cambridge, United Kingdom; and.
  • Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV.

技术路线

UK Biobank前瞻性队列嵌套病例对照（221例 incident PSP 与2249例年龄性别匹配对照） → 按基线居住地与欧洲PRTR水体污染物排放设施邻近度分组

最近 5 个完整年度引用趋势

暂无引用数据

数据来源：暂未标注更新时间：暂无更新时间
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公共数据库研究类型未标注Nature genetics

Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.

David M van den Berg、Daniel S Malawsky、Wei Huang 等DOI: 10.1038/s41588-026-02787-5
UK Biobank罕见病风险模型多中心队列研究
5 次引用趋势数据不足

本研究整合英国生物银行多项流体智力测试数据，并对未测量个体进行流体智力估算，使样本量从约27万人增至45.5万人以上。广泛验证显示，估算表型在遗传上类似实测流体智力，但仍可能残留部分非认知信号。合并实测与估算流体智力后，独立显著常见单核苷酸多态性关联数由390增至550，并减少了因测试参与者平均受教育程度较高而引入的确认偏倚。罕见变异分析识别出26个显著关联基因（错误发现率<1%），其中8个缺乏智力或神经发育疾病关联的强先验证据，并在外部队列中整体重复。结果表明，估算智力可提升遗传发现效能，并有助于发现新的神经发育疾病相关基因。

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完整作者

David M van den Berg、Daniel S Malawsky、Wei Huang、Petr Danecek、Klaudia Walter、Georgios Kalantzis、Isaac Wade、Duncan Palmer、Ewan Birney、Karin J H Verweij、Dirk J A Smit、Sarah J Lindsay、Matthew E Hurles、Abdel Abdellaoui、Hilary C Martin

作者机构

  • Department of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.
  • Department of Statistics, University of Oxford, Oxford, UK.
  • The Pioneer Centre for SMARTbiomed, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
  • European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK.
  • Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. meh@sanger.ac.uk.
  • Department of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. a.abdellaoui@amsterdamumc.nl.
  • Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. hcm@sanger.ac.uk.

技术路线

数据/样本：整合UK Biobank多项流体智力(FI)测量，对未测量个体进行FI插补，样本量由约27万扩至超45.5万→分析：将实测与插补FI合并用于常见变异关联分析(独立显著SNP由390增至550)及罕见变异分析(识别26个FDR<1%显著基因)→验证：对插补表型进行广泛验证，显示其遗传上类似实测FI但可能残留部分非认知信号；罕见变异结果在外部队列中总体重复。

最近 5 个完整年度引用趋势

0110202102022020230202412025

不含 2026 年，仅展示最近 5 个完整年度。

数据来源：openalex更新时间：2026/10/29 12:36
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临床队列综述Laboratory medicine

Extending the clinical utility of exome sequencing: reanalysis, variant reclassification, and dynamic reporting in molecular diagnosis.

Lupeng Ji、Xue Zhou、Jiong Gao 等DOI: 10.1093/labmed/lmag081
罕见病多组学综述
暂无引用数据

临床外显子组测序（ES）广泛用于疑似孟德尔病和罕见病的诊断，但许多患者初次分析后仍无法确诊，阴性或非诊断性结果并不一定排除遗传病因，因为基因组知识和患者表型会随时间演变。该叙述性综述检索PubMed/MEDLINE、Web of Science核心合集和Google Scholar，综合外显子再分析、变异重分类、动态报告及补充诊断方法的证据与实践考量。非诊断性ES结果可能反映技术和生物信息学局限、临床或家系信息不完整、基因-疾病知识演变、变异证据不确定或超出常规ES检测范围的遗传机制。结合更新表型信息、数据库、分析方法和家系证据的结构化再分析可发现额外诊断；变异重分类和动态报告更新支持纵向解读，次要发现和人工智能辅助流程需适当监管。再分析不足时，可机制导向升级至基因组测序、RNA测序、长读长测序、甲基化检测、生化检测或功能试验。结构化再分析和动态报告可将ES从一次性分子检测转变为纵向诊断过程，实施需透明的再分析标准、可追溯的解读、不确定性的适当沟通和可持续的实验室流程，以支持临床决策和精准医学。

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AI 辅助短评，基于标题和摘要整理

本文为叙述性综述，系统梳理外显子组测序阴性后重分析、变异重分类与动态报告的策略，并讨论机制导向的升级检测。选题切合临床痛点，强调将ES从一次性检测转变为纵向诊断过程。但作为综述，未提供原始验证数据，重分析与动态报告的实际增益、可操作性及成本效益仍需前瞻性研究确认。

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完整作者

Lupeng Ji、Xue Zhou、Jiong Gao、Lin Zhu、Hui Zhang、Yilong Tu、Shun Ge、Chao Yuan

作者机构

  • Department of Pathology, The Second Affiliated Hospital of Jiaxing University, Jiaxing, China.
  • Medical Affairs Department, Hangzhou Adicon Clinical Laboratories Co., Ltd., West Lake District, Hangzhou, China.
  • Medical Affairs Department, Shenzhen Mindray Bio-Medical Electronics Co, Ltd, Shenzhen, China.

技术路线

文献检索（PubMed/MEDLINE、Web of Science Core Collection、Google Scholar）→叙述性综述证据综合（外显子组重分析、变异重分类、动态报告及补充诊断方法）

最近 5 个完整年度引用趋势

暂无引用数据

数据来源：暂未标注更新时间：暂无更新时间
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临床队列临床研究Nature medicine

Longitudinal plasma proteomics predict phenoconversion to clinically manifest ALS.

Ximing Ran、Joanne Wuu、Zhaohui S Qin 等DOI: 10.1038/s41591-026-04528-x
UK Biobank罕见病多组学风险模型队列研究
5 次引用趋势数据不足

一项纵向Olink Explore高通量血浆蛋白质组研究纳入33例表型转化者、35例ALS患者、10例症状前致病性变异携带者和59例对照的516份系列血浆样本，识别出92种在表型转化前浓度发生变化的蛋白质，并确定由19种蛋白质组成的核心组合；该组合可预测0.5至5年时间范围内的表型转化（交叉验证曲线下面积0.80-0.89），估算转化时间的平均绝对误差为1.6年。上述发现在英国生物银行数据中得到部分重复，证实NEFL、EDA2R和CA3等多种蛋白质在症状前升高，且多蛋白组合在估算表型转化时间方面优于单独使用NEFL。研究揭示症状前ALS的生物学特征，并基于纵向实证数据识别出一组新的易感性/风险生物标志物组合，有助于推进ALS预防目标。

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编辑短评

本研究针对ALS症状前表型转化难以预测的瓶颈，基于纵向血浆Olink蛋白质组学识别转化前变化蛋白并构建19蛋白组合，可预测0.5-5年转化时间，并在UK Biobank中部分重复。其为症状前ALS生物学及预防试验富集提供了候选风险标志物依据。

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完整作者

Ximing Ran、Joanne Wuu、Zhaohui S Qin、Michael P McDermott、Johnathan Cooper-Knock、Yindi Li、Volkan Granit、Anne-Laure Grignon、Elizabeth Lin、Maria Catalina Fernandez、Danielle Colato、Nathan Carberry、Christina M Lill、Paolo Piazza、Andrea Malaspina、Michael Benatar

作者机构

  • Department of Biostatistics and Bioinformatics, Emory University, Atlanta, GA, USA.
  • Department of Computer Science, Emory University, Atlanta, GA, USA.
  • Department of Neurology and ALS Center, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Department of Biostatistics and Computational Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
  • Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
  • Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • NIHR Sheffield Biomedical Research Centre, Sheffield, UK.
  • Department of Neuromuscular Diseases, UCL Queen Square Motor Neuron Disease Center, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Institute of Epidemiology and Social Medicine, University of Münster, Münster, Germany.
  • Ageing and Epidemiology Unit (AGE), School of Public Health, Imperial College London, London, UK.
  • Nuffield Department of Medicine, Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Department of Neurology and ALS Center, University of Miami Miller School of Medicine, Miami, FL, USA. mbenatar@med.miami.edu.

技术路线

纵向血浆样本（33例表型转化者、35例ALS患者、10例症状前携带者、59例对照，共516份系列血浆）→Olink Explore高通量蛋白质组学分析→识别92个表型转化前浓度变化蛋白并刻画纵向轨迹→构建19蛋白核心组合，交叉验证AUC 0.80-0.89预测0.5-5年表型转化、平均绝对误差1.6年→UK Biobank数据部分重复验证（NEFL、EDA2R、CA3等症状前升高，多蛋白组合优于单用NEFL）

最近 5 个完整年度引用趋势

0110202102022020230202402025

不含 2026 年，仅展示最近 5 个完整年度。

数据来源：openalex更新时间：2026/11/01 03:56
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公共数据库综述Nature genetics

Genome-wide association analyses of borderline personality disorder identify 11 loci and highlight shared risk with mental and somatic disorders.

Fabian Streit、Swapnil Awasthi、Alisha S M Hall 等DOI: 10.1038/s41588-026-02654-3
UK Biobank罕见病多组学多中心Meta 分析
1 次引用趋势数据不足

研究纳入欧洲血统的12339例患者和1041717名对照进行发现阶段分析，并在685例患者和107750名对照中重复验证，开展迄今规模最大的边缘型人格障碍全基因组关联研究荟萃分析。结果识别出11个独立相关基因组位点和9个风险基因；单核苷酸多态性遗传率为17.3%，构建的多基因评分在责任量表上可解释4.6%的表型变异。边缘型人格障碍与创伤后应激障碍、抑郁、注意缺陷多动障碍、反社会行为及自杀和自伤相关指标的全基因组关联研究显示最强的正向遗传相关性。基于多基因评分在生物样本库中开展的全表型组分析证实上述关联，并发现其与阻塞性肺疾病和糖尿病等其他疾病相关。分析表明边缘型人格障碍是一种多基因疾病，其遗传风险与精神和躯体健康状况存在显著重叠。

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AI 辅助短评，基于标题和摘要整理

该研究通过迄今最大规模BPD全基因组关联荟萃分析，识别11个独立位点与9个风险基因，并量化其多基因结构及遗传重叠。其价值在于以PGS跨生物库验证，将BPD遗传风险与精神及躯体疾病（如肺病、糖尿病）联系起来，为共病机制研究提供遗传学线索。

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完整作者

Fabian Streit、Swapnil Awasthi、Alisha S M Hall、Alice Braun、Maria Niarchou、Eirini Marouli、Oladapo Babajide、Josef Frank、Lea Zillich、Carolin M Callies、Diana Avetyan、Eric Zillich、Joonas Naamanka、Jean Gonzalez、Arvid Harder、Yi Lu、Zouhair Aherrahrou、Zain-Ul-Abideen Ahmad、Helga Ask、Anthony Batzler、Michael E Benros、Odette M Brand-de Wilde、Søren Brunak、Mie T Bruun、Lea A N Christoffersen、Lucía Colodro-Conde、Brandon J Coombes、Elizabeth C Corfield、Norbert Dahmen、Maria Didriksen、Khoa M Dinh、Srdjan Djurovic、Joseph Dowsett、Ole Kristian Drange、Helene Dukal、Susanne Edelmann、Christian Erikstrup、Mariana K Espinola、Eva Fassbinder、Annika Faucon、Diana S Ferreira de Sá、Jerome C Foo、Maria Gilles、Alfonso Gutiérrez-Zotes、Thomas F Hansen、Magnus Haraldsson、R Patrick Harper、Alexandra Havdahl、Urs Heilbronner、Stefan Herms、Henrik Hjalgrim、Christopher Hübel、Gitta A Jacob、Bitten Aagaard、Anders Jorgensen、Martin Jungkunz、Nikolaus Kleindienst、Nora Knoblich、Stefanie Koglin、Julia Kraft、Kristi Krebs、Christopher W Lee、Yuhao Lin、Stefanie Lis、Amanda Lisoway、Ioannis A Malogiannis、Amy Martinsen、Tolou Maslahati、Katharina Merz、Andreas Meyer-Lindenberg、Susan Mikkelsen、Christina Mikkelsen、Arian Mobascher、Gerard Muntané、Asmundur Oddsson、Sisse R Ostrowski、Teemu Palviainen、Ole B V Pedersen、Geir Pedersen、Liam Quinn、Matthias A Reinhard、Florian A Ruths、Björn H Schott、Michael Schredl、Emanuel Schwarz、Cornelia E Schwarze、Michael Schwinn、Tabea Sarah Send、Engilbert Sigurdsson、Katja Simon-Keller、Astros T Skuladottir、Joaquim Soler、Anne Sonley、Erik Sørensen、Hreinn Stefansson、Peter Straub、Jaana Suvisaari、Martin Tesli、Jacob Træholt、Henrik Ullum、Maja P Völker、G Bragi Walters、Rujia Wang、Christian C Witt、Gerhard Zarbock、Peter Zill、John-Anker Zwart、DBDS Genomic Consortium、GLAD Study、HUNT All-In Psychiatry、Ole A Andreassen、Arnoud Arntz、Joanna M Biernacka、Martin Bohus、Gerome Breen、Alexander L Chapman、Sven Cichon、Lea K Davis、Michael Deuschle、Sebastian Euler、Sabine C Herpertz、Benjamin Hummelen、Andrea Jobst、Jaakko Kaprio、James L Kennedy、Kelli Lehto、Klaus Lieb、Lourdes Martorell、Shelley McMain、Richard Musil、Vanessa Nieratschker、Markus M Nöthen、Frank Padberg、Aarno Palotie、Juan C Pascual、Nader Perroud、Josep A Ramos-Quiroga、Ted Reichborn-Kjennerud、Marta Ribases、Stefan Roepke、Dan Rujescu、Sandra Sanchez-Roige、Claudia Schilling、Christian Schmahl、Kari Stefansson、Thorgeir E Thorgeirsson、Gustavo Turecki、Elisabet Vilella、Thomas Werge、Bendik S Winsvold、Johannes Wrege、Marcella Rietschel、Stephan Ripke、Stephanie H Witt

作者机构

  • Hector Institute for Artificial Intelligence in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. fabian.streit@zi-mannheim.de.
  • Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. fabian.streit@zi-mannheim.de.
  • Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. fabian.streit@zi-mannheim.de.
  • German Center for Mental Health (DZPG), Partner Site Mannheim-Heidelberg-Ulm, Mannheim-Heidelberg-Ulm, Germany. fabian.streit@zi-mannheim.de.
  • Department of Psychiatry and Psychotherapy, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
  • Department of Affective Disorders, Aarhus University Hospital-Psychiatry, Aarhus, Denmark.
  • Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University London, London, UK.
  • Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • German Center for Mental Health (DZPG), Partner Site Mannheim-Heidelberg-Ulm, Mannheim-Heidelberg-Ulm, Germany.
  • Hector Institute for Translational Brain Research, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Health Psychology, School of Social Sciences, University of Mannheim, Mannheim, Germany.
  • Hector Institute for Artificial Intelligence in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • SleepWell Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.
  • Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
  • Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
  • DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, Lübeck, Germany.
  • University Heart Center Lübeck, Lübeck, Germany.
  • Social, Genetic and Developmental Psychiatry Centre, Institute of Psychology, Psychiatry and Neuroscience, King's College London, London, UK.
  • PsychGen Centre for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway.
  • Department of Child Health and Development, Norwegian Institute of Public Health, Oslo, Norway.
  • PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway.
  • Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
  • Copenhagen Research Centre for Biological and Precision Psychiatry, Mental Health Centre Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark.
  • Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Netherlands Institute for Personality Disorders, Halsteren, Netherlands.
  • Department of Public Health & Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Clinical Immunology Research Unit, Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.
  • Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark.
  • Institute of Biological Psychiatry, Mental Health Services, University of Copenhagen, Copenhagen, Denmark.
  • Brain and Mental Health Research Program, QIMR Berghofer, Brisbane, Queensland, Australia.
  • School of Psychology, The University of Queensland, Brisbane, Queensland, Australia.
  • Psychiatric Genetic Epidemiology Group, Research Department & Nic Waals Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.
  • MRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
  • Department of Psychiatry and Psychotherapy, University Medical Center, University of Mainz, Mainz, Germany.
  • Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.
  • Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Centre for Precision Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Department of Psychiatry, Sørlandet Hospital, Kristiansand, Agder, Norway.
  • Department of Psychiatry and Psychotherapy, University Hospital Tübingen, Tübingen, Germany.
  • German Center for Mental Health (DZPG), partner site Tübingen, Tübingen, Germany.
  • Department of Psychiatry and Psychotherapy, Christian-Albrechts-Universität zu Kiel, Kiel, Germany.
  • Department of Psychology, Division of Clinical Psychology and Psychotherapy, Saarland University, Saarbrücken, Germany.
  • Institute for Psychopharmacology, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • Department of Psychiatry, College of Health Sciences, University of Alberta, Edmonton, Alberta, Canada.
  • Neuroscience and Mental Health Institute, University of Alberta, Edmonton, Alberta, Canada.
  • Hospital Universitari Institut Pere Mata (HUIPM), Institute de Recerca Biomédica Catalunya Sud (IRB-CatSud) previously IISPV-CERCA, Universitat Rovira i Virgili (URV), Reus, Spain.
  • Biomedical Network Research Centre on Mental Health (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain.
  • Neurogenomic, Translational Research Centre, Copenhagen University Hospital, Glostrup, Denmark.
  • Danish Headache Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Landspitali University Hospital, Reykjavik, Iceland.
  • Faculty of Medicine, Department of Psychiatry, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
  • Bradford District Care NHS Foundation Trust, Bradford, UK.
  • Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany.
  • Human Genomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Institute of Human Genetics, University Hospital Bonn & University of Bonn, Bonn, Germany.
  • Danish Cancer Institute, Copenhagen, Denmark.
  • Department of Haematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • UK National Institute for Health Research (NIHR) Biomedical Research Centre, South London and Maudsley Hospital and King's College London, London, UK.
  • National Centre for Register-based Research, Aarhus University, Aarhus, Denmark.
  • Clinic for Child and Adolescent Psychiatry, German Red Cross Hospitals Westend, Berlin, Germany.
  • Institute for Psychology, Department of Clinical Psychology and Psychotherapy, University of Freiburg, Freiburg, Germany.
  • Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.
  • Psychiatric Center Copenhagen, Copenhagen, Denmark.
  • Institute for Medical and Data Ethics, Heidelberg University, Faculty of Medicine, Heidelberg, Germany.
  • German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Department of Psychosomatic Medicine and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • Department of Psychiatry and Neurosciences, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt- Universität zu Berlin, Campus Benjamin Franklin, Berlin, Germany.
  • Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
  • Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
  • Department of Clinical Psychology, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • Molecular Brain Science, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
  • First Department of Psychiatry, Eginition Hospital Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Department of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.
  • Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
  • HUNT Center for Molecular and Clinical Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.
  • Department of Psychiatry and Psychotherapy, LMU University Hospital Munich, Ludwig Maximilian University Munich, Munich, Germany.
  • Institut de Biologia Evolutiva (UPF-CSIC), Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
  • deCODE genetics / AMGEN, Reykjavik, Iceland.
  • Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
  • Department of Research and Innovation, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
  • Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway.
  • German Center for Mental Health (DZPG), Partner Site Munich-Augsburg, Munich-Augsburg, Germany.
  • South London and Maudsley NHS Foundation Trust, London, UK.
  • Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany.
  • German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
  • Leibniz Institute for Neurobiology, Magdeburg, Germany.
  • Department of Psychiatry and Psychotherapy, Otto von Guericke University, Magdeburg, Germany.
  • Department of Psychiatry and Psychotherapy, Sleep Laboratory, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
  • Department of Clinical Psychology and Psychotherapy, Charlotte Fresenius University, Wiesbaden, Germany.
  • Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Institut de Recerca Biomèdica Sant Pau (IIB-Sant Pau), Barcelona, Spain.
  • Department of Psychiatry, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Department of Psychiatry and Forensic Medicine & Institute of Neurosciences, Universitat Autònoma de Barcelona, Bellaterra, Spain.
  • Borderline Personality Disorder Clinic, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
  • Finnish Institute for Health and Welfare (THL), Helsinki, Finland.
  • Mental health and suicide, Norwegian Institute of Public Health, Oslo, Norway.
  • Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
  • Statens Serum Institut, Copenhagen, Denmark.
  • Department of Anaesthesiology and Operative Intensive Care, University Hospital Mannheim, Medical Faculty Mannheim/Heidelberg University, Mannheim, Germany.
  • IVAH, Institut für Verhaltenstherapie-Ausbildung Hamburg, gemeinnützige GmbH, Hamburg, Germany.
  • KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.
  • Department of Clinical Psychology, University of Amsterdam, Amsterdam, the Netherlands.
  • Department of Psychiatry & Psychology, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
  • Department of Psychology, Faculty of Arts and Social Sciences, Simon Fraser University, Vancouver, British Columbia, Canada.
  • DBT Centre of Vancouver, Vancouver, British Columbia, Canada.
  • Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
  • Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Juelich, Germany.
  • Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Department of Consultation Psychiatry and Psychosomatics, University Hospital Zurich, Zurich, Switzerland.
  • Department of General Psychiatry, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.
  • Borderline Personality Disorder Clinic, General Adult Psychiatry and Health Systems Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
  • Oberberg Fachkliniken for Psychiatry, Psychosomatics and Psychotherapy, Bad Tölz, Germany.
  • Insitute of Human Genetics, University Hospital Bonn & University of Bonn, Bonn, Germany.
  • Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
  • The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Mental Health and Psychiatry Department, Vic Hospital Consortium, Vic, Spain.
  • Department of Psychiatric, University Hospitals of Geneva, Geneva, Switzerland.
  • Psychiatric Genetics Unit, Group of Psychiatry, Mental Health and Addiction, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Department of Psychiatry, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Department of Psychiatry and Forensic Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.
  • Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain.
  • Department of Psychiatry, Oberberg Fachkliniken for Psychiatry, Psychosomatics and Psychotherapy, Wendisch Rietz, Germany.
  • Department of Psychiatry, University of Halle, Halle, Germany.
  • Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA.
  • Douglas Institute, Department of Psychiatry, McGill University, Montreal, Quebec, Canada.
  • Department of Neurology, Oslo University Hospital, Oslo, Norway.
  • Medical Faculty, University of Basel, Basel, Switzerland.
  • Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. stephanie.witt@zi-mannheim.de.
  • German Center for Mental Health (DZPG), Partner Site Mannheim-Heidelberg-Ulm, Mannheim-Heidelberg-Ulm, Germany. stephanie.witt@zi-mannheim.de.

技术路线

12,339例病例与1,041,717例对照的发现样本及685例病例与107,750例对照的重复样本（均为欧洲 ancestry）→GWAS荟萃分析（识别11个独立位点、9个基于基因分析的风险基因、SNP遗传力17.3%、构建多基因评分PGS，解释4.6%的责任尺度表型方差）→在Vanderbilt大学医学中心Biobank和UK Biobank中进行PGS的表型组关联分析验证

最近 5 个完整年度引用趋势

0110202102022020230202402025

不含 2026 年，仅展示最近 5 个完整年度。

数据来源：openalex更新时间：2026/11/01 03:56
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