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Association between known Alzheimer’s disease risk loci andin vivobrain amyloid pathology in a Korean Cohort

Alzheimer's & Dementia 2023年第S24期19卷

作者： Hyejin Ahn Min Soo Byun Dahyun Yi Gijung Jung Yen-Ning Huang Anthony J. Griswold Margaret A. A Pericak-Vance Yu Kyeong Kim Yun-Sang Lee Chul-Ho Sohn Koung Mi Kang Jun-Young Lee Andrew J. Saykin Kwangsik Nho Dong Young Lee Interdisciplinary program of cognitive science Seoul National University College of Humanities Seoul Korea Republic of (South) HyejinAhn Interdisciplinary program of cognitive science Seoul National University College of Humanities Seoul Korea Republic of (South). Department of Psychiatry Seoul National University College of Medicine Seoul Korea Republic of (South) Seoul National University Dementia Research Center Seoul Korea Republic of (South) Department of Neuropsychiatry Seoul National University Hospital Seoul Korea Republic of (South) Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Korea Republic of (South) Center for Neuroimaging Department of Radiology and Imaging Sciences Indiana University School of Medicine Indianapolis IN USA Indiana Alzheimer Disease Research Center Indiana University School of Medicine Indianapolis IN USA University of Miami Miller School of Medicine Miami FL USA Department of Nuclear Medicine SMG-SNU Boramae Medical Center Seoul Korea Republic of (South) Department of Nuclear Medicine Seoul National University College of Medicine Seoul Korea Republic of (South) Department of Radiology Seoul National University Hospital Seoul Korea Republic of (South) Department of Neuropsychiatry SMG-SNU Boramae Medical Center Seoul Korea Republic of (South) Indiana Alzheimer’s Disease Research Center Indiana University School of Medicine Indianapolis IN USA Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA Center for Computational Biology and Bioinformatics Indiana University School of Medicine Indianapolis IN USA

Background Most genome-wide association studies (GWAS) of Alzheimer’s disease (AD) have been conducted in populations of European ancestry. It is important to determine if known AD-related variants from these studies are associated with AD biomarkers. Therefore, we investigated the association between known AD risk loci and in vivo brain Aβ deposition in older Korean adults. Method Participants (n = 503) from the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer’s disease (KBASE) were analyzed. Older adults who were cognitively normal (CN), had mild cognitive impairment (MCI) or AD dementia (264 CN, 148 MCI, 91 AD) underwent comprehensive assessments including 11 C-PiB-PET/MRI and blood sampling. Among 76 AD-related target single nucleotide polymorphisms (SNPs) with genetic evidence compiled by the AD Sequencing Project (ADSP), 38 SNPs with minor allele frequency (MAF)>1% were extracted from TOPMed-based imputed GWAS genotyping data in KBASE. We employed exploratory univariable logistic regression analysis with Aβ positivity as the dependent variable for each SNP. Then, SNPs with a significance level of p<0.05 were subjected to confirmatory multivariable logistic regression analysis, adjusting for age and sex, with Bonferroni correction. Result In the first step of exploratory analyses, we discovered significant differences in Aβ positivity rates between carriers and noncarriers of minor allele of several loci, including rs16824536 in MME , rs11218343 in SORL1 , rs4985556 in IL34 , rs4277405 in ACE and rs3851179, located in the intergenic region between EED and PICALM . The subsequent confirmatory analysis found an association between these variants and Aβ positivity after adjusting age and sex (Table 1). Notably, the negative association of rs3851179 with Aβ positivity remained significant after correcting for multiple comparisons and after controlling for APOE4 carrier status, age, and sex (OR 0.529, 95% CI 0.345–0.813). Conclusion We id

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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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Comparative cellular analysis of motor cortex in human, marmoset and mouse (vol 598, pg 111, 2021)

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NATURE 2022年第7904期604卷 E8-E8页

作者： Bakken, Trygve E. Jorstad, Nikolas L. Hu, Qiwen Lake, Blue B. Tian, Wei Kalmbach, Brian E. Crow, Megan Hodge, Rebecca D. Krienen, Fenna M. Sorensen, Staci A. Eggermont, Jeroen Yao, Zizhen Aevermann, Brian D. Aldridge, Andrew I. Bartlett, Anna Bertagnolli, Darren Casper, Tamara Castanon, Rosa G. Crichton, Kirsten Daigle, Tanya L. Dalley, Rachel Dee, Nick Dembrow, Nikolai Diep, Dinh Ding, Song-Lin Dong, Weixiu Fang, Rongxin Fischer, Stephan Goldman, Melissa Goldy, Jeff Graybuck, Lucas T. Herb, Brian R. Hou, Xiaomeng Kancherla, Jayaram Kroll, Matthew Lathia, Kanan van Lew, Baldur Li, Yang Eric Liu, Christine S. Liu, Hanqing Lucero, Jacinta D. Mahurkar, Anup McMillen, Delissa Miller, Jeremy A. Moussa, Marmar Nery, Joseph R. Nicovich, Philip R. Niu, Sheng-Yong Orvis, Joshua Osteen, Julia K. Owen, Scott Palmer, Carter R. Pham, Thanh Plongthongkum, Nongluk Poirion, Olivier Reed, Nora M. Rimorin, Christine Rivkin, Angeline Romanow, William J. Sedeno-Cortes, Adriana E. Siletti, Kimberly Somasundaram, Saroja Sulc, Josef Tieu, Michael Torkelson, Amy Tung, Herman Wang, Xinxin Xie, Fangming Yanny, Anna Marie Zhang, Renee Ament, Seth A. Behrens, M. Margarita Bravo, Hector Corrada Chun, Jerold Dobin, Alexander Gillis, Jesse Hertzano, Ronna Hof, Patrick R. Hollt, Thomas Horwitz, Gregory D. Keene, C. Dirk Kharchenko, Peter V. Ko, Andrew L. Lelieveldt, Boudewijn P. Luo, Chongyuan Mukamel, Eran A. Pinto-Duarte, Antonio Preiss, Sebastian Regev, Aviv Ren, Bing Scheuermann, Richard H. Smith, Kimberly Spain, William J. White, Owen R. Koch, Christof Hawrylycz, Michael Tasic, Bosiljka Macosko, Evan Z. McCarroll, Steven A. Ting, Jonathan T. Zeng, Hongkui Zhang, Kun Feng, Guoping Ecker, Joseph R. Linnarsson, Sten Lein, Ed S. Allen Institute for Brain Science Seattle WA USA Department of Physiology and Biophysics University of Washington Seattle WA USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Department of Bioengineering University of California San Diego La Jolla CA USA The Salk Institute for Biological Studies La Jolla CA USA Epilepsy Center of Excellence Department of Veterans Affairs Medical Center Seattle WA USA Stanley Institute for Cognitive Genomics Cold Spring Harbor Laboratory Cold Spring Harbor NY USA Department of Genetics Harvard Medical School Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA LKEB Department of Radiology Leiden University Medical Center Leiden The Netherlands Pattern Recognition and Bioinformatics group Delft University of Technology Delft The Netherlands J. Craig Venter Institute La Jolla CA USA Department of Pathology University of California San Diego CA USA Division of Vaccine Discovery La Jolla Institute for Immunology La Jolla CA USA Genomic Analysis Laboratory The Salk Institute for Biological Studies La Jolla CA USA Computer Science and Engineering Program University of California San Diego La Jolla CA USA Howard Hughes Medical Institute The Salk Institute for Biological Studies La Jolla CA USA Bioinformatics and Systems Biology Graduate Program University of California San Diego La Jolla CA USA Institute for Genomes Sciences University of Maryland School of Medicine Baltimore MD USA Center for Epigenomics Department of Cellular and Molecular Medicine University of California San Diego La Jolla CA USA Ludwig Institute for Cancer Research La Jolla CA USA Department of Computer Science University of Maryland College Park College Park MD USA Sanford Burnham Prebys Medical Discovery Institute La Jolla CA USA Biomedical Sciences Program School of Medicine University of California San Diego La Jolla CA USA University of Connecticut Storrs CT USA Department

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Serum BDNF and progression to MCI in cognitively normal older adults: A prospective cohort study

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The journal of prevention of Alzheimer's disease 2025年 100210页

作者： Kyungtae Kim Min Soo Byun Dahyun Yi Joon Hyung Jung Bo Kyung Sohn Gijung Jung Hyejin Ahn Jun-Young Lee Yun-Sang Lee Yu Kyeong Kim Kwangsik Nho Dong Young Lee Department of Neuropsychiatry Seoul National University Hospital Seoul Republic of Korea. Electronic address: youthdukt@***. Department of Neuropsychiatry Seoul National University Hospital Seoul Republic of Korea Department of Psychiatry Seoul National University College of Medicine Seoul Republic of Korea. Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Republic of Korea. Department of Psychiatry Chungbuk National University Hospital Cheongju Republic of Korea. Electronic address: bban29@***. Department of Psychiatry Inje University Sanggye Paik Hospital Seoul Republic of Korea. Electronic address: bksohn1221@***. Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Republic of Korea. Electronic address: gijung1004@***. Interdisciplinary program of cognitive science Seoul National University Seoul Republic of Korea. Department of Neuropsychiatry SMG-SNU Boramae Medical Center Republic of Korea. Electronic address: benji@snu.ac.kr. Department of Nuclear Medicine Seoul National University College of Medicine Seoul Republic of Korea. Electronic address: wonza43@snu.ac.kr. Department of Nuclear Medicine Seoul National University College of Medicine Seoul Republic of Korea. Electronic address: yk3181@snu.ac.kr. Indiana Alzheimer's Disease Research Center Indiana University School of Medicine Indianapolis USA Department of Radiology and Imaging Sciences Indiana University School of Medicine Indianapolis USA. Electronic address: knho@iu.edu. Department of Psychiatry Seoul National University College of Medicine Seoul Republic of Korea Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Republic of Korea Interdisciplinary program of cognitive science Seoul National University Seoul Republic of Korea. Electronic address: selfpsy@snu.ac.kr.

BACKGROUND:Brain-derived neurotrophic factor (BDNF) is the most abundant neurotrophin in the mammalian brain. Preclinical studies suggest that BDNF influences the pathophysiology of Alzheimer's disease. In humans, higher blood BDNF levels have been associated with a lower risk of dementia. However, the relationship between serum BDNF levels and the progression to mild cognitive impairment (MCI) in cognitively normal (CN) individuals remains uncertain. OBJECTIVES:To examine whether higher serum BDNF levels in CN older adults are associated with a reduced incidence of MCI over a 4-year follow-up period and to identify potential moderators of this relationship. DESIGN:Longitudinal analyses were conducted using follow-up data from the Korean Brain Aging Study for Early Diagnosis and Prediction of Alzheimer's Disease, an ongoing prospective cohort study. Data were collected from January 1, 2014, to May 31, 2021, and analyzed from May 1, 2023, to September 30, 2023. SETTING:Community and memory clinic setting. PARTICIPANTS:A total of 274 CN older adults aged 55-90 years were included at baseline. MEASUREMENT:Progression to MCI over the 4-year follow-up period. RESULTS:Among the 274 participants, 26 developed MCI during follow-up. The high BDNF group had a significantly lower incidence of MCI compared to the low BDNF group (hazard ratio [HR], 0.27; 95 % confidence interval [CI], 0.11-0.69; P = 0.006). This association persisted even after adjusting for BDNF Val66Met polymorphism, amyloid PET positivity, vascular risk factors, cholesterol levels, triglycerides, homocysteine, BMI, smoking, alcohol, TBI history, CES-D, and MMSE scores (HR, 0.14; 95 % CI, 0.05-0.40; P < 0.001). Subgroup analyses further revealed that the association was significant only in women (HR, 0.12; 95 % CI, 0.03-0.48; P = 0.002), individuals aged <75 years (HR, 0.16; 95 % CI, 0.03-0.77; P = 0.022), those with less than a college degree (HR, 0.23; 95 % CI, 0.07-0.74; P = 0.013), and amyloid PET-negative

关键词： Alzheimer's disease Brain-derived neurotrophic factor (BDNF) cognitively normal Mild cognitive impairment (MCI) Neurotrophins

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Association of Polygenic Risk Score of Alzheimer’s disease with A/T/N Biomarkers and cognitive Decline

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Alzheimer's & Dementia 2023年第S24期19卷

作者： Joon Hyung Jung Min Soo Byun Dahyun Yi Gijung Jung Hyejin Ahn Shiwei Liu Yen-Ning Huang Anthony J. Griswold Margaret A. A Pericak-Vance Yu Kyeong Kim Yun-Sang Lee Chul-Ho Sohn Koung Mi Kang Jun-Young Lee Andrew J. Saykin Kwangsik Nho Dong Young Lee Seoul National University College of Medicine Seoul Korea Republic of (South) Chungbuk National University Hospital Cheongju Korea Republic of (South) Joon HyungJung Seoul National University College of Medicine Seoul Korea Republic of (South). Seoul National University Hospital Seoul Korea Republic of (South) Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Korea Republic of (South) Interdisciplinary program of cognitive science Seoul National University College of Humanities Seoul Korea Republic of (South) Indiana University School of Medicine Indianapolis IN USA University of Miami Miller School of Medicine Miami FL USA SMG-SNU Boramae Medical Center Seoul Korea Republic of (South)

Background Polygenic risk scores (PRS) quantify the combined effects of genetic variants to enable the prediction of an individual’s risk of developing the disease. Alzheimer’s disease (AD) is a complex disorder in which the relationship among PRS, neuropathological substrates, and related cognitive decline remain especially understudied in Asian populations. We investigated the associations of PRS with AD neuroimaging biomarkers and cognitive phenotypes in a Korean Cohort. Method The study included 501 older adults (264 cognitively normal [CN], 146 mild cognitive impairment [MCI], and 91 AD dementia) from the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer’s Disease (KBASE). Comprehensive clinical and neuropsychological evaluations, as well as multi-modal neuroimaging including 3T MRI and 11 C-PiB-PET were administered. A subset of participants underwent 18 F-AV-1451 PET (n = 167). Imaging phenotypes including beta-amyloid (Aβ) positivity, global tau deposition, and adjusted hippocampal volume (HVa) were used for amyloid (A), tau (T), and neurodegeneration (N) biomarkers, respectively., which was imputed using the TOPMed reference panel. PRS was calculated using the summary statistics of a recent large-scale GWAS study for AD by PRS-CS. The Apolipoprotein E (APOE) region was excluded in the calculation. The associations between standardized PRS and imaging/cognitive phenotypes were examined using either multiple linear or logistic regression analysis with covariates (age and sex for neuroimaging biomarker phenotypes; age, sex and education for cognitive phenotypes). Result PRS was significantly higher in the AD dementia group compared to the CN group. Higher PRS was associated with greater CDR-sum-of-boxes (β[SE] = 0.233[0.083], t = 2.818, p = 0.005) and lower MMSE scores (β[SE] = -0.648[0.198], t = -3.271, p = 0.001). In terms of AD neuroimaging biomarkers (Figure 1), higher PRS was significantly associated with an increased likelihood

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Topographical pattern of blood-brain barrier impairment in preclinical and clinical Alzheimer’s disease

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Alzheimer's & Dementia 2023年第S17期19卷

作者： Dahyun Yi Min Soo Byun Joon Sik Park Gihwan Byeon Hyejin Ahn Gijung Jung Koung Mi Kang Chul-Ho Sohn Jaeseok Park Dong Young Lee Seoul National University Seoul Korea Republic of (South) Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Korea Republic of (South) Correspondece Seoul National University College of Medicine Seoul Korea Republic of (South) Seoul National University Hospital Seoul Korea Republic of (South) Sungkyunkwan University Department of Biomedical Engineering Seoul Korea Republic of (South) Kangwon National University Hospital Chuncheon Korea Republic of (South) Interdisciplinary program of cognitive science Seoul National University College of Humanities Seoul Korea Republic of (South) Sungkyunkwan University Biomedical Institute for Convergence Seoul Korea Republic of (South)

Background While blood-brain barrier (BBB) damage in some brain regions has been suggested in Alzheimer’s disease (AD) dementia and mild cognitive impairment (MCI), the topographical pattern of BBB impairment associated with AD process in whole brain level is still poorly understood. Using high-resolution 3-dimensional (3D) dynamic contrast-enhanced (DCE) scans of BBB permeability ( K trans ) for the whole brain, we aimed to reveal topographical pattern of BBB impairment related to Alzheimer’s disease (AD) including preclinical as well as clinically impaired state. Method Ninety-one participants were included in the study [45 cognitively normal (CN) older adults, 24 individuals with mild cognitive impairment (MCI), and 22 patients with AD dementia]. Comprehensive clinical and neuropsychological assessments were administered to all participants. High-resolution DCE- as well as T 1 -weighted-MRI scans were obtained in addition to amyloid-PET scans. Amyloid-beta (Ab) positivity was obtained using previously established cut-offs. Preprocessing of K trans maps incorporated FreeSurfer-based (v6.0) segmentation to ensure exclusion of the voxels within cerebrospinal fluid (CSF) spaces. Voxel-wise analyses were conducted using SPM12 implemented in MATLAB 2018b. Result Subtle BBB impairment, as measured by K trans map images based on high-resolution 3D DCE-MRI, was observed at multiple brain regions even in preclinical AD (i.e., Ab-positive CN) as well as AD with cognitive impairment (i.e., Ab-positive MCI and AD). The brain regions with impaired K trans closely corresponded to the AD-signature regions (Figure). Compared to Ab-negative CN, Ab-positive CN showed increased breakdown of BBB in the precuneus, posterior-cingulate cortex, and medial temporal lobe. Moreover, compared to Ab-negative CN, Ab-positive MCI and AD patients showed increased breakdown of BBB in more diffuse regions including bilateral frontal, parietal and inferior temporal areas. In contrast, when using lo

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Herpes Simplex Virus Infection and in vivo Alzheimer’s Disease Pathologies

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Alzheimer's & Dementia 2023年第S12期19卷

作者： Yoon Young Chang Min Soo Byun Dahyun Yi Hyejin Ahn Min Jung Kim Joon Hyung Jung Nayeong Kong Bo Kyung Sohn Jun-Young Lee Yu Kyeong Kim Yun-Sang Lee Koung Mi Kang Chul-Ho Sohn Dong Young Lee Seoul National University Hospital Seoul Korea Republic of (South) Seoul National University Dementia Research Center Seoul Korea Republic of (South) Seoul National University College of Medicine Seoul Korea Republic of (South) Institute of Human Behavioral Medicine Medical Research Center Seoul National University Seoul Korea Republic of (South) Interdisciplinary program of cognitive science Seoul National University College of Humanities Seoul Korea Republic of (South) Nowon Eulji Medical Center Eulji University Seoul Korea Republic of (South) Sanggye Paik Hospital Inje University College of Medicine Seoul Korea Republic of (South) SMG-SNU Boramae Medical Center Seoul Korea Republic of (South) Department of Nuclear Medicine SMG-SNU Boramae Medical Center Seoul Korea Republic of (South) Department of Nuclear Medicine Seoul National University College of Medicine Seoul Korea Republic of (South)

Background Interest in the role of Herpes Simplex Virus (HSV) infection in the pathogenesis of Alzheimer’s disease (AD) has increased in recent years. However, previous studies yielded inconsistent findings and no studies have yet investigated the relationship between HSV infection and in vivo AD pathologies such as beta-amyloid (Aβ) and tau deposition in brain. We examined whether the level of serum anti-HSV immunoglobulin G (IgG) antibodies (HSV-IgG), an index of past infection of HSV, is associated with in vivo Aβ and tau deposition in nondemented individuals. We also investigated the modulating effect of HSV-IgG titer on the relationship between Aβ and tau deposition. Method A total of 426 nondemented older individuals (55-90 years old) were recruited from the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer’s Disease (KBASE) cohort. All participants underwent comprehensive clinical assessment, [ 11 C]-Pittsburgh Compound B positron emission tomography (PET), and blood sampling for measurement of serum HSV antibodies. A subset of participants (N = 129) underwent [ 18 F] AV-1451 PET. Individuals whose HSV-IgG titer was lower than 25 percentile of the whole group was classified as the HSV low group, while those with HSV-IgG titer higher than 25 percentile were classified as the HSV high group. Result There was no significant difference in age, sex, clinical diagnosis (cognitive normal vs. mild cognitive impairment), and apolipoprotein E e4 positivity (APOE4) between the HSV low (N = 106) and HSV high (N = 320) groups. In terms of AD biomarkers, neither global Aβ nor tau deposition was different between the HSV high and HSV low groups, even after controlling the effect of age, sex, and APOE4. However, there was a significant HSV group x Aβ deposition interaction effect on tau deposition (p = 0.037), suggesting the level of HSV-IgG modulates the relationship between Aβ and tau deposition. Subsequent subgroup analyses showed a significant

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

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Nature genetics 2023年第9期55卷 1471-1482页

作者： Remi Stevelink Dorothee Kasteleijn-Nolst Trenite Bobby P. C. Koeleman Dick Lindhout Anja C. M. Sonsma Ciarán Campbell Gianpiero L. Cavalleri Norman Delanty Hany El-Naggar Austin Lacey Peter Widdess-Walsh Colin P. Doherty Siwei Chen Claire Churchhouse Mark J. Daly Yen-Chen A. Feng Daniel P. Howrigan Mitja I. Kurki Benjamin M. Neale Aarno Palotie Wei Zhou Namrata Gupta Henrike O. Heyne Bassel Abou-Khalil Kevin F. Haas R. S. Taneja Oluyomi M. Adesoji Michael Nothnagel Peter Nürnberg Thomas Sander Zaid Afawi Ilan Blatt Amos D. Korczyn Elisabetta Amadori Ganna Balagura Antonella Riva Marcello Scala Paolo Scudieri Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Alison Anderson Patrick Kwan Terence J. O’Brien Slavé Petrovski K. Meng Tan Marian Todaro Joseph Anderson Danielle M. Andrade Quratulain Zulfiqar Ali Grazia Annesi Pauls Auce Andreja Avbersek Simona Balestrini Vera Braatz Claudia B. Catarino Krishna Chinthapalli Jennifer Jamnadas-Khoda Dalia Kasperavičiūte Costin Leu Josemir W. Sander Sanjay M. Sisodiya Sara Zagaglia Melanie Bahlo Karen L. Oliver Mark D. Baker Beata Fonferko-Shadrach William O. Pickrell Carmen Barba Claudia Bianchini Viola Doccini Renzo Guerrini Davide Mei Martino Montomoli Elena Parrini Annalisa Vetro Karen Barboza Fabrice Bartolomei Thomas Bast Bernhard J. Steinhoff Larry Baum Stacey S. Cherny Pak Sham Tobias Baumgartner Christian E. Elger Kerstin Hallmann Wolfram S. Kunz Rainer Surges Randi von Wrede Gábor Zsurka Betül Baykan Nerses Bebek Yeşim Kesim Albert J. Becker Susanne Schoch Felicitas Becker Caitlin A. Bennett Samuel F. Berkovic Stephanie L. Leech Brigid M. Regan Ingrid E. Scheffer Bianca Berghuis Ahmad Beydoun Wassim Nasreddine Francesca Bisulli Lidia Di Vito Lorenzo Ferri Tania Giangregorio Laura Licchetta Raffaella Minardi Barbara Mostacci Carlotta Stipa Paolo Tinuper Lorenzo Muccioli Federica Pondrelli Dheeraj R. Bobbili Emadeldin Hassanin Roland Krause Zied Landoulsi Patrick May Ingo Borggraefe Christian Bosselmann Christian Hengsbach Josua Kegele Stephen Lauxmann Department of Genetics University Medical Center Utrecht Utrecht The Netherlands Stichting Epilepsie Instellingen Nederland (SEIN) Heemstede The Netherlands School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland The FutureNeuro Research Centre Dublin Ireland Department of Neurology Beaumont Hospital Dublin Ireland Department of Neurology St. James’s Hospital Dublin Ireland Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and M.I.T Cambridge MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA Division of Biostatistics Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei Taiwan Hasso Plattner Institute Digital Health Center University of Potsdam Potsdam Germany Hasso Plattner Institute Mount Sinai School of Medicine New York City NY USA Department of Neurology Vanderbilt University Medical Center Nashville TN USA Cologne Center for Genomics (CCG) University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany University Hospital Cologne Cologne Germany Department of Neurology Charité Universitaetsmedizin Berlin Campus Virchow-Clinic Berlin Germany Tel-Aviv University Sackler Faculty of Medicine Ramat Aviv Israel Department of Neurology Sheba Medical Center Ramat Gan Israel Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Department of Medicine University of Melbour

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

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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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I see sick people: Beliefs about sensory detection of infectious disease are largely consistent across cultures

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Brain, Behavior, and Immunity 2025年 128卷 737-750页

作者： Ackerman, Joshua M. Samore, Theodore Fessler, Daniel M.T. Kupfer, Tom R. Choi, Soyeon Merrell, Wilson N. Aarøe, Lene Aavik, Toivo Acabado, Stephen Akello, Grace Alfian, Ilham N. Al-Shawaf, Laith Alvarez, Marinés M. Ammann, Jeanine Arikan, Gizem Asha, Saiyeda A. Astobiza, Anibal M. Baeza-Ugarte, Carmen G. Barclay, Pat Barlow, Fiona Kate Bizarro, Lisiane Bressan, Paola Castellanos-Chacón, Andres Choy, Bryan K.C. Chusairi, Achmad Contreras-Garduño, Jorge Chávez Cosamalón, Brenda L. Costa-Neves, Bernardo De, Mallika de Lima, Tiago J.S. de Zoysa, Piyanjali Dryžaitė, Ieva Elbæk, Christian T. Fedor, Peter Fernández, Ana M. Fernandez-Morales, Regina Fülöp, Márta Gamsakhurdia, Vladimer Lado Garcia-Gómez, Leonor Garcia-Marques, Leonel Garduño-Franco, Jimena Pilar Grazioso, María del Habacht, Fanny Hasan, Youssef Haugestad, Camila P. Haugestad, Christian A.P. Havlíček, Jan Hernandez, Earl J. Hoang, Vu M. Hong, Minsung Hromatko, Ivana Iliško, Dzintra Imada, Hirotaka Jakšić, Ivana Jarmakowski, Tomasz Hjördísar Jónsdóttir, Harpa L. Kajokaite, Kotrina Kaňková, Šárka Kervyn, Nicolas Kim, Jinseok P. Kunst, Jonas R. Laakasuo, Michael Leongómez, Juan David Li, Norman P. Lu, Junsong Lynch, Nathan Maegli, María A. Manley, Harry Marcu, Gabriela McAfee, Thea Mitkidis, Panagiotis Molnár, Nándor B. Morvinski, Coby Muhamad, Haslina Nejat, Pegah Huy, Hoang Nguyen Oliveira, Angelica N. Olsson, Mats J. Onyishi, Charity N. Onyishi, Ike E. Orozco, Reegan Otterbring, Tobias Ottersen, Ida S. Pacheco-López, Gustavo Panagiotopoulou, Penny Paniagua, Walter Parvin, Roksana Pavlović, Zoran Prokop, Pavol Raffman, Emma Rizwan, Muhammad Rojas, Sheila Różycka-Tran, Joanna Sánchez, Oscar R. Selim, Heyla Sevi, Barış Shani, Yaniv Shastry, Madhulika S. Stieger, Stefan Suh, Eunkook M. Sumari, Melati Takemura, Kosuke Tognetti, Arnaud Trombetta, Roberta Z.R. Tybur, Joshua M. Ucak, Eylul B. Uchida, Yukiko Valentova, Jaroslava V. Viciana, Hugo Visine, Amandine Wang, Jin Wang, XT Yahiiaiev, Illia I. Zein, Rizqy A. Žeželj, Iris Department of Psychology University of Michigan Ann Arbor MI United States Religion Programme University of Otago Dunedin New Zealand Department of Anthropology University of California Los Angeles Los Angeles CA United States Center for Behavior Evolution & Culture University of California Los Angeles Los Angeles CA United States Bedari Kindness Institute University of California Los Angeles Los Angeles CA United States Department of Psychology Nottingham Trent University England Nottingham United Kingdom Department of Psychology University of Wisconsin-Madison Madison WI United States Center for the Experimental-Philosophical Study of Discrimination Aarhus University Aarhus Denmark Department of Political Science Aarhus University Aarhus Denmark Institute of Psychology University of Tartu Tartu Estonia Department of Mental Health Faculty of Medicine Gulu University Gulu Uganda Department of Psychology Universitas Airlangga East Java Indonesia Department of Psychology University of Colorado Colorado Springs Colorado Springs CO United States Department of Psychology Universidad del Valle Guatemala Guatemala City Guatemala Agroscope Research group Economic Modelling and Policy Analysis Ettenhausen Switzerland Department of Political Science Trinity College Dublin Dublin Ireland Department of Psychology International University of Business Agriculture and Technology Dhaka Bangladesh Department of Philosophy University of Granada Granada Spain Department of Psychology University of Guelph Guelph ON Canada School of Psychology University of Queensland Brisbane QLD Australia Graduate Program in Psychology Universidade Federal do Rio Grande Do Sul RS Porto Alegre Brazil Department of General Psychology University of Padova Padova Italy Faculty of Psychology Universidad El Bosque Bogotá Colombia Ministry of Defence Singapore Sustainability and Education Policy Network Saskatoon SK Canada Escuela Nacional de Estudios Superiores unid

Identifying cues to contagious disease is critical for effectively tracking and defending against interpersonal infection threats. People hold lay beliefs about the types of sensory information most relevant for identifying whether others are sick with transmissible illnesses. Are these beliefs universal, or do they vary along cultural and ecological dimensions? Participants in 58 countries (N = 19,217) judged how effective, and how likely they were to use, cues involving each of the five major sensory modalities in an imagined social interaction during a flu outbreak. Belief patterns were strongly consistent across countries (sight > audition > touch > smell > taste), suggesting a largely universal conceptualization of the role of sensory information for interpersonal respiratory disease detection. Results also support a safe senses hypothesis, with perceivers reporting that they would use senses that function at a distance—and thus reduce pathogen transmission risk—more than would be expected given participants’ beliefs as to the efficacy of these senses for disease detection. Where societal variation did emerge, it was captured by a cohesive set of socio-ecological factors, including human development, latitude, pathogen prevalence, and population density. Together, these findings reveal a shared lens through which contagious respiratory disease is assessed, one that prioritizes minimizing risk to perceivers, and may offer leverage for designing interventions to improve public health. © 2025 Elsevier Inc.

关键词： Behavioral immune system Culture Iterpersonal perception Pathogen threat Sensation Threat detection

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