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20th Annual ACM/IEEE International Conference on Human-Robot Interaction, HRI 2025

作者： Park, Cheonshu Cho, Miyoung Shin, Minjung Ryu, Jeh-Kwang Jang, Minsu Social Robotics Research Lab Daejeon Korea Republic of Seoul National University Interdisciplinary Program in Cognitive Science Seoul Korea Republic of Dongguk University Department of Physical Education Seoul Korea Republic of

ISBN: (纸本)9798350378931

This study presents an adaptive human-robot interaction (HRI) system that evaluates older adult participants' satisfaction with personalized health care programs. By integrating the CLOi robot with a large language model (LLM), the system conducts satisfaction surveys that adapt in real-time to participant responses. The system was applied to evaluate healthcare programs that include physical health measurements, exercise assessments, and virtual reality (VR) experiences. The system utilizes the CLOi robot and Claude API to analyze response clarity in real-time, automatically generating contextually appropriate follow-up questions when responses are deemed ambiguous. This adaptive questioning strategy ensures comprehensive response quality before proceeding to subsequent survey items. We conducted a preliminary feasibility study with five older adult participants to evaluate our approach. The system leverages LLM prompts to analyze gaps between question intent and participant responses, generating targeted follow-up questions as needed. Results demonstrate that our LLM-enhanced robotic interview system effectively reduced response ambiguity through dynamic follow-up questioning, achieving an 85% response resolution rate. This adaptive approach improved the clarity and specificity of healthcare satisfaction assessments for older adults. © 2025 IEEE.

关键词： Industrial robots

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Adaptive Robot-Mediated Assessment using LLM for Enhanced Survey Quality in Older Adults Care programs 25

Adaptive Robot-Mediated Assessment using LLM for Enhanced Su...

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ACM/IEEE International Conference on Human-Robot Interaction (HRI)

作者： Cheonshu Park Miyoung Cho Minjung Shin Jeh-Kwang Ryu Minsu Jang Social Robotics Research Lab Electronics and Telecommunications Research Institute (ETRI) Daejeon Republic of Korea Interdisciplinary Program in Cognitive Science Seoul National University Seoul Republic of Korea Department of Physical Education Dongguk University Seoul Republic of Korea

ISBN: (数字)9798350378931

ISBN: (纸本)9798350378948

关键词： Surveys Large language models Human-robot interaction Medical services Virtual reality Particle measurements Real-time systems Question generation Older adults Robots

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An octopamine-specific GRAB sensor reveals a monoamine relay circuitry that boosts aversive learning

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National science Review 2024年第5期11卷 186-201页

作者： Mingyue Lv Ruyi Cai Renzimo Zhang Xiju Xia Xuelin Li Yipan Wang Huan Wang Jianzhi Zeng Yifei Xue Lanqun Mao Yulong Li State Key Laboratory of Membrane Biology School of Life SciencesPeking University State Key Laboratory of Brain and Cognitive Science Institute of Biophysics Chinese Academy of Sciences PKU-IDG/Mc Govern Institute for Brain Research Yuanpei College Peking University Peking-Tsinghua Center for Life Sciences Academy for Advanced Interdisciplinary Studies Peking University Peking University–Tsinghua University–National Institute of Biological Sciences Joint Graduate Program Academy for Advanced Interdisciplinary Studies Peking University Institute of Molecular Physiology Shenzhen Bay Laboratory College of Chemistry Beijing Normal University Chinese Institute for Brain Research

Octopamine（OA）,analogous to norepinephrine in vertebrates,is an essential monoamine neurotransmitter in invertebrates that plays a significant role in various biological functions,including olfactory associative ***,the spatial and temporal dynamics of OA in vivo remain poorly understood due to limitations associated with the currently available methods used to detect *** overcome these limitations,we developed a genetically encoded GPCR activation-based（GRAB） OA sensor called *** sensor is highly selective for OA and exhibits a robust and rapid increase in fluorescence in response to extracellular *** GRABOA1.0,we monitored OA release in the Drosophila mushroom body（MB）,the fly's learning center,and found that OA is released in response to both odor and shock stimuli in an aversive learning *** OA release requires acetylcholine（ACh） released from Kenyon cells,signaling via nicotinic ACh ***,we discovered that OA amplifies aversive learning behavior by augmenting dopamine-mediated punishment signals via Octβ1R in dopaminergic neurons,leading to alterations in synaptic plasticity within the ***,our new GRABOA1.0sensor can be used to monitor OA release in real time under physiological conditions,providing valuable insights into the cellular and circuit mechanisms that underlie OA signaling.

关键词： octopamine dopamine GRAB sensor learning and memory

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The enduring gap in educational attainment in schizophrenia according to the past 50 years of published research: a systematic review and meta-analysis

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The Lancet Psychiatry 2022年第7期9卷 565-573页

作者： Crossley, Nicolás A Alliende, Luz María Czepielewski, Leticia S Aceituno, David Castañeda, Carmen Paz Diaz, Camila Iruretagoyena, Barbara Mena, Carlos Mena, Cristian Ramirez-Mahaluf, Juan Pablo Tepper, Angeles Vasquez, Javiera Fonseca, Lais Machado, Viviane Hernández, Camilo E Vargas-Upegui, Cristian Gomez-Cruz, Gladys Kobayashi-Romero, Luis F Moncada-Habib, Tomas Arango, Celso Barch, Deanna M Carter, Cameron Correll, Christoph U Freimer, Nelson B McGuire, Philip Evans-Lacko, Sara Undurraga, Eduardo Bressan, Rodrigo Gama, Clarissa S Lopez-Jaramillo, Carlos de la Fuente-Sandoval, Camilo Gonzalez-Valderrama, Alfonso Undurraga, Juan Gadelha, Ary Department of Psychiatry School of Medicine Pontificia Universidad Católica de Chile Santiago Chile Department of Psychosis Studies Institute of Psychiatry Psychology and Neuroscience King's College London UK London United Kingdom Department of Psychiatry and Behavioral Neuroscience School of Medicine The University of Chicago Chicago IL United States Laboratory of Molecular Psychiatry Centro de Pesquisa Clínica Hospital de Clínicas de Porto Alegre Porto Alegre Brazil Programa de Pós-Graduação em Psicologia Instituto Psicologia Universidade Federal do Rio Grande do Sul (UFRGS) Porto Alegre Brazil Graduate Program in Psychiatry and Behavioral Sciences Departamento de Psiquiatria e Medicina Legal Universidade Federal do Rio Grande do Sul (UFRGS) Porto Alegre Brazil Psychiatry and Mental Health Service Complejo Asistencial Dr Sótero del Río Puente Alto Chile Early Intervention Program Instituto Psiquiátrico Dr. J. Horwitz Barak Santiago Chile Pharmacovigilance Program Instituto Psiquiátrico Dr. J. Horwitz Barak Santiago Chile Department of Neurology and Psychiatry Faculty of Medicine Clínica Alemana Universidad del Desarrollo Vitacura Chile Institute of Cognitive Neuroscience University College London UK London United Kingdom School of Medicine Universidad Finis Terrae Santiago Chile Schizophrenia Program (PROESQ) Department of Psychiatry Federal University of São Paulo São Paulo Brazil Interdisciplinary Laboratory in Clinical Neuroscience (LiNC) Department of Psychiatry Federal University of São Paulo São Paulo Brazil Department of Psychiatry Faculty of Medicine University of Antioquia Medellín Colombia Laboratory of Experimental Psychiatry Instituto Nacional de Neurología y Neurocirugía Mexico City Mexico Department of Child and Adolescent Psychiatry Institute of Psychiatry and Mental Health Hospital General Universitario Gregorio Marañón School of Medicine Universidad Complutense CIBERSAM Madrid Spain School of Medicine University of Washington

Background: Educational attainment is associated with wellbeing and health, but patients with schizophrenia achieve lower levels of education than people without. Several effective interventions can ameliorate this situation. However, the magnitude of the education gap in schizophrenia and its change over time are unclear. We aimed to reconstruct the trajectories of educational attainment in patients with schizophrenia and, if reported, their healthy comparator controls. Methods: We did a systematic review and meta-analysis including all studies reporting on patients with schizophrenia (of mean age ≥18 years) and describing the number of years of education of the participants, with or without healthy controls. There were no other design constraints on studies. We excluded studies that included only patients with other schizophrenia spectrum disorders and studies that did not specify the number of years of education of the participants. 22 reviewers participated in retrieving data from a search in PubMed and PsycINFO (Jan 1, 1970, to Nov 24, 2020). We estimated the birth date of participants from their mean age and publication date, and meta-analysed these data using random-effects models, focusing on educational attainment, the education gap, and changes over time. The primary outcome was years of education. The protocol was registered on PROSPERO (CRD42020220546). Findings: From 32 593 initial references, we included 3321 studies reporting on 318 632 patients alongside 138 675 healthy controls (170 941 women and 275 821 men from studies describing sex or gender;data on ethnicity were not collected). Patients’ educational attainment increased over time, mirroring that of controls. However, patients with schizophrenia in high-income countries had 19 months less education than controls (–1·59 years, 95% CI –1·66 to –1·53;p<0·0001), which is equivalent to a Cohen's d of –0·56 (95% CI –0·58 to –0·54) and implies an odds ratio of 2·58 for not completing 12 years of educa

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Assessing the Management of Excessive Daytime Sleepiness by Napping Benefits

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Sleep and Vigilance 2020年第2期4卷 117-123页

作者： Murillo-Rodríguez, Eric Yamamoto, Tetsuya Monteiro, Diogo Budde, Henning Rocha, Nuno Barbosa Cid, Luis Teixeira, Diogo S. Telles-Correia, Diogo Veras, André Barciela Machado, Sérgio Imperatori, Claudio Torterolo, Pablo Laboratorio de Neurociencias Moleculares e Integrativas Escuela de Medicina División Ciencias de la Salud Universidad Anáhuac Mayab Km. 15.5 Carretera Mérida-Progreso Int. Km. 2 Carretera a Chablekal Mérida C.P. 97308 Yucatán Mexico Intercontinental Neuroscience Research Group Mérida Yucatán Mexico Graduate School of Technology Industrial and Social Sciences Tokushima University Tokushima Japan Research Center in Sport Health and Human Development-CIDESD Vila Real Portugal Sport Science School of Rio Maior-Polytechnic Institute of Santarém Rio Maior Portugal Faculty of Human Sciences Medical School of Hamburg Hamburg Germany School of Health Polytechnic Institute of Porto Porto Portugal Interdisciplinary Center for the Study of Human Performance (CIPER) Universidade Lusófona de Humanidades e Tecnologias Lisbon Portugal Faculty of Medicine University of Lisbon Lisbon Portugal Medical School at State University of Mato Grosso do Sul Campo Grande Mato Grosso do Sul Brazil Laboratory of Physical Activity Neuroscience Physical Activity Sciences Postgraduate Program Salgado de Oliveira University Niterói Brazil Cognitive and Clinical Psychology Laboratory Department of Human Science European University of Rome Rome Italy Laboratorio de Neurobiología del Sueño Departamento de Fisiología Facultad de Medicina Universidad de la República Montevideo Uruguay

Purpose: Demanding lifestyle characterized by extended working hours, shift work schedules as well as excessive use of mobile gadgets leads to the disruption of the circadian and homeostatic factors affecting the sleep quality of individuals. As consequence, subjects complain of suffering several sleep disorders some of them characterized by inducing excessive daytime sleepiness (EDS). Currently, the therapeutic approaches for managing EDS include medication, promotion of sleep hygiene, cognitive and behavioral therapy or using of continuous positive airway pressure machine. In this review, we propose the posology of the personalized sleep medicine by the prescription of naps for treating EDS. Methods: This review included the online search in PubMed and manual review of articles (basic and clinical trials) of a range of personalized medicine potentially associated to factors of dosage in areas such as nutrition, sports and sleep. Articles in English were identified and subsequently analyzed for consideration for this review. Results: Current evidence has demonstrated that naps exert positive outcomes for individuals complaining with EDS. The dosage of naps might follow similar procedures as reported for personalized interventions in diets or exercise programs (by taking the right dose, at the proper time, with a recommended frequency) which have demonstrated successfully results. Conclusions: The management of EDS may include the personalized sleep medicine considering the prescription of dosage of naps. © 2020, Springer Nature Singapore Pte Ltd.

关键词： Diets Dose Exercise Food

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Tau pathway-based gene analysis in the Alzheimer’s disease continuum identifiesCLUandFYNassociated with tau deposition on PET in a Korean Cohort

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Alzheimer's & Dementia 2023年第S24期19卷

作者： Dahyun Yi Kwangsik Nho Min Soo Byun Gijung Jung Hyejin Ahn Yun-Sang Lee Jong-Won Kim Jong-Ho Park Shiwei Liu Yen-Ning Huang Andrew J. Saykin Dong Young Lee Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Korea Republic of (South) DahyunYi Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Korea Republic of (South). Indiana Alzheimer’s Disease Research Center Indianapolis IN USA Department of Radiology and Imaging Sciences Indiana University School of Medicine Indianapolis IN USA Department of Psychiatry Seoul National University College of Medicine Seoul Korea Republic of (South) Department of Neuropsychiatry Seoul National University Hospital Seoul Korea Republic of (South) Interdisciplinary program of cognitive science Seoul National University College of Humanities Seoul Korea Republic of (South) Department of Nuclear Medicine Seoul National University College of Medicine Seoul Korea Republic of (South) Samsung Medical Center Department of Laboratory Medicine and Genetics Sungkyunkwan University School of Medicine Seoul Korea Republic of (South) Clinical Genomics Center Samsung Medical Center Seoul Korea Republic of (South) Indiana University School of Medicine Indianapolis IN USA Indiana Alzheimer’s Disease Research Center Indiana University School of Medicine Indianapolis IN USA

Background Abnormal tau protein aggregation and spreading in the brain is closely linked to cognitive impairment and neurodegeneration in Alzheimer’s disease (AD). The role of genetic variation in brain tau aggregation has not been fully elucidated. Here, we performed pathway-based candidate gene association analysis to identify novel genes associated with brain tau deposition on PET in a well-characterized Korean AD continuum Cohort. Method We analyzed data for 145 older adults (69 cognitively normal (CN), 38 mild cognitive impairment (MCI), and 38 AD) from the Korean Brain Aging Study for the Early Diagnosis and Prediction of AD (KBASE). We selected 15 candidate genes related to both tau pathways and AD, curated from existing pathway databases, literature mining, and genome-wide association study findings. We performed gene-based association analysis of tau deposition measured by 18 F-AV-1451 PET scans using PLINK. In addition, we performed whole brain voxel-wise association analysis of identified single nucleotide polymorphisms (SNPs) to investigate their topographic distributions of differences in tau deposition across the whole brain using SPM12. We examined the interaction of the identified SNPs with APOE ε4 carrier status. Result Gene-based analysis identified CLU and FYN as significantly associated with tau deposition after adjusting for multiple testing. The most significant signals originated from rs149413552 in CLU and rs57650567 in FYN . A voxel-wise analysis for the two SNPs showed that individuals carrying at least one minor allele demonstrated greater tau throughout the temporal, parietal, and frontal lobes than individuals having no minor alleles ( Fig. 1 ). The two SNPs were associated with greater cortical atrophy of AD-signature regions and worse global cognition. rs149413552 in CLU was also associated with longitudinal decline in global cognition and immediate verbal memory over two years. APOE ε4 and the two SNPs appeared to exert additive effec

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Why Do People Watch Pornography? Cross-Cultural Validation of the Pornography Use Motivations Scale (PUMS) and Its Short Form (PUMS-8)

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Journal of sex research 2024年 1-17页

作者： Mónika Koós Léna Nagy Shane W Kraus Zsolt Demetrovics Marc N Potenza Émilie Gaudet Rafael Ballester-Arnal Dominik Batthyány Sophie Bergeron Joël Billieux Peer Briken Julius Burkauskas Georgina Cárdenas-López Joana Carvalho Jesús Castro-Calvo Yun-Hsuan Chang Lijun Chen Giacomo Ciocca Ornella Corazza Rita I Csako David P Fernandez Hironobu Fujiwara Elaine F Fernandez Johannes Fuss Roman Gabrhelík Ateret Gewirtz-Meydan Biljana Gjoneska Mateusz Gola Joshua B Grubbs Hashim T Hashim Yi-Ping Hsieh Md Saiful Islam Mustafa Ismail Martha C Jiménez-Martínez Tanja Jurin Ondrej Kalina Verena Klein András Költő Sang-Kyu Lee Karol Lewczuk Christine Lochner Silvia López-Alvarado Kateřina Lukavská Percy Mayta-Tristán Dan J Miller Oľga Orosová Gábor Orosz Fernando P Ponce Gonzalo R Quintana Gabriel C Quintero Garzola Jano Ramos-Diaz Kévin Rigaud Ann Rousseau Marco De Tubino Scanavino Marion K Schulmeyer Pratap Sharan Mami Shibata Sheikh Shoib Vera Sigre-Leirós Luke Sniewski Ognen Spasovski Vesta Steibliene Dan J Stein Julian Strizek Alexandar Štulhofer Berk C Ünsal Marie-Pier Vaillancourt-Morel Marie Claire Van Hout Beáta Bőthe Institute of Forensic Psychiatry and Sex Research University of Duisburg-Essen. Institute of Psychology ELTE Eötvös Loránd University. Department of Psychology University of Nevada. Centre of Excellence in Responsible Gaming University of Gibraltar. College of Education Psychology and Social Work Flinders University. Yale University School of Medicine. Connecticut Council on Problem Gambling. Département de Psychologie Université de Montréal. Departmento de Psicología Básica Clínica y Psicobiología University Jaume I of Castellón. Institute for Behavioural Addictions Sigmund Freud University Vienna. Institute of Psychology University of Lausanne. Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV). Institute for Sex Research Sexual Medicine and Forensic Psychiatry University Medical Centre Hamburg-Eppendorf. Laboratory of Behavioral Medicine Neuroscience Institute Lithuanian University of Health Sciences. Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico. William James Center for Research Departamento de Educação e Psicologia Universidade de Aveiro. Department of Personality Assessment and Psychological Treatments University of Valencia. Institute of Gerontology College of Medicine National Cheng Kung University. Institute of Behavioral Sciences College of Medicine National Cheng Kung University. Department of Psychology College of Humanity and Social Science Fuzhou University. Section of Sexual Psychopathology Department of Dynamic and Clinical Psychology and Health Studies Sapienza University of Rome. Department of Clinical Pharmaceutical and Biological Sciences University of Hertfordshire. Department of Psychology and Cognitive Science University of Trento. Department of Psychology and Neuroscience Auckland University of Technology. Nottingham Trent University. Department of Neuropsychiatry Graduate School of Medicine Kyoto University. Decentralized Big Data Team RIKEN Center f

Motivations for pornography use may vary across gender identities, sexual orientations, and geographical regions, warranting examination to promote individual and public health. The aims of this study were to validate the Pornography Use Motivations Scale (PUMS) in a diverse, multicultural sample, and develop a short form (PUMS-8) that can assess a wide range of pornography use motivations. Using data from 42 countries ( = 75,117; M = 32.07; SD = 12.37), enabled us to thoroughly evaluate the dimensionality, validity, and reliability of the Pornography Use Motivations Scale (PUMS), leading to the development of the more concise PUMS-8 short scale. Additionally, language-, nationality-, gender-, and sexual-orientation-based measurement invariance tests were conducted to test the comparability across groups. Both the PUMS and the PUMS-8 assess eight pornography use motivations, and both demonstrated excellent psychometric properties. Sexual Pleasure emerged as the most frequent motivation for pornography use across countries, genders, and sexual orientations, while differences were observed concerning other motivations (e.g. self-exploration was more prevalent among gender-diverse individuals than men or women). The motivational background of pornography use showed high similarity in the examined countries. Both the PUMS and the PUMS-8 are reliable and valid measurement tools to assess different types of motivations for pornography use across countries, genders, and sexual orientations. Both scales are recommended for use in research and clinical settings.

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LifeTime and improving European healthcare through cell-based interceptive medicine (vol 587, pg 377, 2020)

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NATURE 2021年第7852期592卷 E8-E8页

作者： Rajewsky, Nikolaus Almouzni, Genevieve Gorski, Stanislaw A. Aerts, Stein Amit, Ido Bertero, Michela G. Bock, Christoph Bredenoord, Annelien L. Cavalli, Giacomo Chiocca, Susanna Clevers, Hans De Strooper, Bart Eggert, Angelika Ellenberg, Jan Fernandez, Xose M. Figlerowicz, Marek Gasser, Susan M. Hubner, Norbert Kjems, Jorgen Knoblich, Jurgen A. Krabbe, Grietje Lichter, Peter Linnarsson, Sten Marine, Jean-Christophe Marioni, John C. Marti-Renom, Marc A. Netea, Mihai G. Nickel, Dorthe Nollmann, Marcelo Novak, Halina R. Parkinson, Helen Piccolo, Stefano Pinheiro, Ines Pombo, Ana Popp, Christian Reik, Wolf Roman-Roman, Sergio Rosenstiel, Philip Schultze, Joachim L. Stegle, Oliver Tanay, Amos Testa, Giuseppe Thanos, Dimitris Theis, Fabian J. Torres-Padilla, Maria-Elena Valencia, Alfonso Vallot, Celine van Oudenaarden, Alexander Vidal, Marie Voet, Thierry Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany Charité-Universitätsmedizin Berlin Germany Berlin Institute of Health (BIH) Berlin Germany German Center for Cardiovascular Research (DZHK) Partner Site Berlin Berlin Germany Institute for Biology Humboldt University of Berlin Berlin Germany Cardiovascular and Metabolic Sciences Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany Department of Pediatric Oncology/Hematology Charité-Universitätsmedizin Berlin Berlin Germany Institut Curie CNRS PSL Research University Sorbonne Université Nuclear Dynamics Unit Equipe Labellisée Ligue contre le cancer Paris France VIB Center for Brain and Disease Research Leuven Belgium Department of Human Genetics KU Leuven Leuven Belgium Department of Neurosciences KU Leuven Leuven Belgium UK Dementia Research Institute at UCL University College London London UK Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK Department of Immunology Weizmann Institute of Science Rehovot Israel Centre for Genomic Regulation (CRG) Barcelona Institute of Science and Technology Barcelona Spain CNAG-CRG Centre for Genomic Regulation Barcelona Institute of Science and Technology Barcelona Spain Universitat Pompeu Fabra Barcelona Spain ICREA Barcelona Spain CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria Department of Laboratory Medicine Medical University of Vienna Vienna Austria Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria Department of Medical Humanities Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht The Netherlands Institute of Human Genetics UMR 9002 CNRS and University of Montpellier Montpellier France Department of Experimental Oncology IEO European Institute of Oncology IRCCS Milan Italy Department of Oncology and Hemato

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Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (vol 51, pg 659, 2019)

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NATURE GENETICS 2019年第6期51卷 1068-1068页

作者： Huckins, Laura M. Dobbyn, Amanda Ruderfer, Douglas M. Hoffman, Gabriel Wang, Weiqing Pardinas, Antonio F. Rajagopal, Veera M. Als, Thomas D. Nguyen, Hoang T. Girdhar, Kiran Boocock, James Roussos, Panos Fromer, Menachem Kramer, Robin Domenici, Enrico Gamazon, Eric R. Purcell, Shaun Demontis, Ditte Borglum, Anders D. Walters, James T. R. O'Donovan, Michael C. Sullivan, Patrick Owen, Michael J. Devlin, Bernie Sieberts, Solveig K. Cox, Nancy J. Im, Hae Kyung Sklar, Pamela Stahl, Eli A. Pamela Sklar Division of Psychiatric Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai New York NY USA Vanderbilt University Medical Center Nashville TN USA MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University Cardiff UK Department of Biomedicine Aarhus University Aarhus Denmark The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Denmark Center for Integrative Sequencing Aarhus University Aarhus Denmark Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA Human Brain Collection Core National Institute of Mental Health Bethesda MD USA Laboratory of Neurogenomic Biomarkers Centre for Integrative Biology (CIBIO) University of Trento Trento Italy Clare Hall University of Cambridge Cambridge UK University of North Carolina at Chapel Hill Chapel Hill NC USA Karolinska Institutet Stockholm Sweden Department of Psychiatry University of Pittsburgh Pittsburgh PA USA Systems Biology Sage Bionetworks Seattle WA USA Section of Genetic Medicine Department of Medicine University of Chicago Chicago IL USA Integrated Technology Research Laboratories Pharmaceutical Research Division Takeda Pharmaceutical Company Limited Fujisawa Japan Neuropsychiatry Section Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Neuropsychiatric Signaling Program Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Psychiatry JJ Peters Virginia Medical Center Bronx NY USA Department of Neuroscience Icahn School of Medicine at Mount Sinai New York New York NY USA Friedman Brain Institute

Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.

关键词： Gene expression Genome-wide association studies Schizophrenia Transcriptomics

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Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations

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Nature genetics 2025年 1-13页

作者： Aude Nicolas Richard Sherva Benjamin Grenier-Boley Yoontae Kim Masataka Kikuchi Jigyasha Timsina Itziar de Rojas María Carolina Dalmasso Xiaopu Zhou Yann Le Guen Carlos E Arboleda-Bustos Maria Aparecida Camargos Bicalho Maëlenn Guerchet Sven van der Lee Monica Goss Atahualpa Castillo Céline Bellenguez Fahri Küçükali Claudia L Satizabal Bernard Fongang Qiong Yang Oliver Peters Anja Schneider Martin Dichgans Dan Rujescu Norbert Scherbaum Jürgen Deckert Steffi Riedel-Heller Lucrezia Hausner Laura Molina-Porcel Emrah Düzel Timo Grimmer Jens Wiltfang Stefanie Heilmann-Heimbach Susanne Moebus Thomas Tegos Nikolaos Scarmeas Oriol Dols-Icardo Fermin Moreno Jordi Pérez-Tur María J Bullido Pau Pastor Raquel Sánchez-Valle Victoria Álvarez Han Cao Nancy Y Ip Amy K Y Fu Fanny C F Ip Natividad Olivar Carolina Muchnik Carolina Cuesta Lorenzo Campanelli Patricia Solis Daniel Gustavo Politis Silvia Kochen Luis Ignacio Brusco Mercè Boada Pablo García-González Raquel Puerta Pablo Mir Luis M Real Gerard Piñol-Ripoll Jose María García-Alberca Jose Luís Royo Eloy Rodriguez-Rodriguez Hilkka Soininen Sami Heikkinen Alexandre de Mendonça Shima Mehrabian Latchezar Traykov Jakub Hort Martin Vyhnalek Katrine Laura Rasmussen Jesper Qvist Thomassen Yolande A L Pijnenburg Henne Holstege John C van Swieten Harro Seelaar Jurgen A H R Claassen Willemijn J Jansen Inez Ramakers Frans Verhey Aad van der Lugt Philip Scheltens Jenny Ortega-Rojas Ana Gabriela Concha Mera Maria F Mahecha Rodrigo Pardo Gonzalo Arboleda Shahram Bahrami Vera Fominykh Geir Selbæk Caroline Graff Goran Papenberg Vilmantas Giedraitis Anne Boland Jean-François Deleuze Luiz Armando de Marco Edgar Nunes de Moraes Bernardo de Mattos Viana Marco Túlio Gualberto Cintra Teresa Juarez-Cedillo Anthony J Griswold Tatiana Forund Jonathan Haines Lindsay Farrer Anita DeStefano Ellen Wijsman Richard Mayeux Margaret Pericak-Vance Brian Kunkle Alison Goate Gerard D Schellenberg Badri Vardarajan Li-San Wang Yuk Yee Leung Clifton L Dalgard Gael Nicolas David Wallon Carole Dufouil Florence Pasqu U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement Université Lille Inserm CHU Lille Institut Pasteur de Lille Lille France. dr.aude.nicolas.deydier@***. Institut du Cerveau - Paris Brain Institute - ICM Sorbonne Université CNRS APHP Hôpital de La Pitié Salpêtrière Inserm Paris France. dr.aude.nicolas.deydier@***. Behavioral Sciences Division National Center for PTSD VA Boston Healthcare System Boston MA USA. Department of Medicine (Biomedical Genetics) Boston University Boston MA USA. U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement Université Lille Inserm CHU Lille Institut Pasteur de Lille Lille France. BK FOUR Department of Integrative Biological Sciences Chosun University Gwangju Republic of Korea. Graduate School of Frontier Science University of Tokyo Tokyo Japan. Department of Psychiatry Washington University School of Medicine St. Louis MO USA. NeuroGenomics and Informatics Center Washington University School of Medicine St. Louis MO USA. ACE Alzheimer Center Barcelona Universitat Internacional de Catalunya Barcelona Spain. CIBERNED Network Center for Biomedical Research in Neurodegenerative Diseases National Institute of Health Carlos III Madrid Spain. Department of Psychiatry and Psychotherapy Faculty of Medicine and University Hospital Cologne Division of Neurogenetics and Molecular Psychiatry University of Cologne Cologne Germany. Studies in Neuroscience and Complex Systems Unit (ENyS) CONICET-HEC-UNAJ Santiago Chile. Division of Life Science State Key Laboratory of Molecular Neuroscience Molecular Neuroscience Center The Hong Kong University of Science and Technology Kowloon China. Hong Kong Center for Neurodegenerative Diseases Hong Kong China. Guangdong Provincial Key Laboratory of Brain Science Disease and Drug Development HKUST Shenzhen Research InstituteShenzhen-Hong Kong Institute of Brain Science Shenzhen China. Department of Neuro

A polygenic score (PGS) for Alzheimer's disease (AD) was derived recently from data on genome-wide significant loci in European ancestry populations. We applied this PGS to populations in 17 European countries and observed a consistent association with the AD risk, age at onset and cerebrospinal fluid levels of AD biomarkers, independently of apolipoprotein E locus (APOE). This PGS was also associated with the AD risk in many other populations of diverse ancestries. A cross-ancestry polygenic risk score improved the association with the AD risk in most of the multiancestry populations tested when the APOE region was included. Finally, we found that the PGS/polygenic risk score captured AD-specific information because the association weakened as the diagnosis was broadened. In conclusion, a simple PGS captures the AD-specific genetic information that is common to populations of different ancestries, although studies of more diverse populations are still needed to better characterize the genetics of AD.

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