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Author Correction: π-HuB: the proteomic navigator of the human body

Nature 2025年第8046期637卷 E22页

作者： Fuchu He Ruedi Aebersold Mark S Baker Xiuwu Bian Xiaochen Bo Daniel W Chan Cheng Chang Luonan Chen Xiangmei Chen Yu-Ju Chen Heping Cheng Ben C Collins Fernando Corrales Jürgen Cox Weinan E Jennifer E Van Eyk Jia Fan Pouya Faridi Daniel Figeys George Fu Gao Wen Gao Zu-Hua Gao Keisuke Goda Wilson Wen Bin Goh Dongfeng Gu Changjiang Guo Tiannan Guo Yuezhong He Albert J R Heck Henning Hermjakob Tony Hunter Narayanan Gopalakrishna Iyer Ying Jiang Connie R Jimenez Lokesh Joshi Neil L Kelleher Ming Li Yang Li Qingsong Lin Cui Hua Liu Fan Liu Guang-Hui Liu Yansheng Liu Zhihua Liu Teck Yew Low Ben Lu Matthias Mann Anming Meng Robert L Moritz Edouard Nice Guang Ning Gilbert S Omenn Christopher M Overall Giuseppe Palmisano Yaojin Peng Charles Pineau Terence Chuen Wai Poon Anthony W Purcell Jie Qiao Roger R Reddel Phillip J Robinson Paola Roncada Chris Sander Jiahao Sha Erwei Song Sanjeeva Srivastava Aihua Sun Siu Kwan Sze Chao Tang Liujun Tang Ruijun Tian Juan Antonio Vizcaíno Chanjuan Wang Chen Wang Xiaowen Wang Xinxing Wang Yan Wang Tobias Weiss Mathias Wilhelm Robert Winkler Bernd Wollscheid Limsoon Wong Linhai Xie Wei Xie Tao Xu Tianhao Xu Liying Yan Jing Yang Xiao Yang John Yates Tao Yun Qiwei Zhai Bing Zhang Hui Zhang Lihua Zhang Lingqiang Zhang Pingwen Zhang Yukui Zhang Yu Zi Zheng Qing Zhong Yunping Zhu State Key Laboratory of Medical Proteomics Beijing Proteome Research Center National Center for Protein Sciences (Beijing) Beijing Institute of Lifeomics Beijing China. hefc@***. International Academy of Phronesis Medicine (Guangdong) Guangdong China. hefc@***. Department of Biology Institute of Molecular Systems Biology ETH Zurich Zurich Switzerland. aebersold@imsb.biol.ethz.ch. Macquarie Medical School Macquarie University Sydney New South Wales Australia. Institute of Pathology and Southwest Cancer Center Southwest Hospital Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology Ministry of Education of China Chongqing China. Institute of Health Service and Transfusion Medicine Beijing China. Department of Pathology and The Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University Baltimore MD USA. State Key Laboratory of Medical Proteomics Beijing Proteome Research Center National Center for Protein Sciences (Beijing) Beijing Institute of Lifeomics Beijing China. Key Laboratory of Systems Biology Center for Excellence in Molecular Cell Science Shanghai Institute of Biochemistry and Cell Biology Chinese Academy of Sciences Shanghai China. Department of Nephrology First Medical Center of Chinese PLA General Hospital Nephrology Institute of the Chinese People's Liberation Army State Key Laboratory of Kidney Diseases National Clinical Research Center for Kidney Diseases Beijing Key Laboratory of Kidney Disease Research Beijing China. Institute of Chemistry Academia Sinica Taipei China. National Biomedical Imaging Center State Key Laboratory of Membrane Biology Institute of Molecular Medicine Peking-Tsinghua Center for Life Sciences College of Future Technology Peking University Beijing China. School of Biological Sciences Queen's University of Belfast Belfast UK. Functional Proteomics Laboratory Centro Nacional de Biotecnología-CSIC Madrid Spain. Computational Systems Biochemistry Research Group Ma

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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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Low energy performance boost through a hardware stereoscopic trigger between CTA LST-1 and MAGIC 38

Low energy performance boost through a hardware stereoscopic...

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38th International Cosmic Ray Conference, ICRC 2023

作者： Baxter, J. Barrio, J.A. Bitossi, M. Donini, A. Mazin, D. Paoletti, R. Pérez Aguilera, A. Tejedor Álvarez, L.Á. Abe, H. Abe, K. Abe, S. Abhir, J. Acciari, V.A. Aguasca-Cabot, A. Agudo, I. Alvarez Crespo, N. Aniello, T. Ansoldi, S. Antonelli, L.A. Aramo, C. Arbet-Engels, A. Cornelia, A. Artero, M. Asano, K. Aubert, P. Baack, D. Babić, A. Baktash, A. Bamba, A. Baquero Larriva, A. Baroncelli, L. Barres de Almeida, U. Barrio, J.A. Batkovic, I. Becerra González, J. Bednarek, W. Bernardini, E. Bernardos, M.I. Bernete Medrano, J. Berti, A. Besenrieder, J. Bhattacharjee, P. Biederbeck, N. Bigongiari, C. Biland, A. Bissaldi, E. Blanch, O. Bonnoli, G. Bordas, P. Bošnjak, Ž. Bulgarelli, A. Burelli, I. Burmistrov, L. Buscemi, M. Busetto, G. Campoy-Ordaz, A. Cardillo, M. Caroff, S. Carosi, A. Carosi, R. Carrasco, M.S. Carretero-Castrillo, M. Cassol, F. Castro-Tirado, A.J. Cauz, D. Cerasole, D. Ceribella, G. Chai, Y. Cheng, K. Chiavassa, A. Chikawa, M. Chilingarian, A. Chytka, L. Cifuentes, A. Cikota, S. Colombo, E. Contreras, J.L. Cortina, J. Costantini, H. Covino, S. D’Amico, G. Dalchenko, M. D’Elia, V. Da Vela, P. Dazzi, F. De Angelis, A. de Bony de Lavergne, M. De Lotto, B. De Lucia, M. de Menezes, R. Del Peral, L. Deleglise, G. Delfino, M. Delgado, C. Delgado Mengual, J. della Volpe, D. Dellaiera, M. Del Popolo, A. Depaoli, D. Di Piano, A. Di Pierro, F. Di Pilato, A. Di Tria, R. Di Venere, L. Díaz, C. Dominik, R.M. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Eisenberger, L. Elsässer, D. Emery, G. Escudero, J. Fallah Ramazani, V. Fariña, L. Fattorini, A. Ferrara, G. Ferrarotto, F. Fiasson, A. Foffano, L. Font, L. Freixas Coromina, L. Fröse, S. Fukami, S. Fukazawa, Y. Garcia, E. Garcia López, R. Garczarczyk, M. Gasbarra, C. Gasparrini, D. Gasparyan, S. Gaug, M. Geyer, D. Giesbrecht Paiva, J. Giglietto, N. Giordano, F. Gliwny, P. Godinovic, N. Grau, R. Green, J. Green, D. Gunji, S. Günther, P. Hackfeld, J. Hadasch, D. Hahn, A. Hashiyama, K. Hassan, T. Hayashi, K. Institute for Cosmic Ray Research University of Tokyo Chiba Kashiwa277-8582 Japan IPARCOS Institute EMFTEL Department Universidad Complutense de Madrid Spain Sezione di Pisa Pisa56127 Italy Osservatorio Astronomico di Roma Italy Max-Planck-Institut für Physik Föhringer Ring 6 München80805 Germany Università degli Studi di Siena via Roma 56 Siena53100 Italy Department of Physics Tokai University Japan ETH Zürich Switzerland Instituto de Astrofísica de Canarias Departamento de Astrofísica Universidad de La Laguna Spain Departament de Física Quàntica i Astrofísica Institut de Ciències del Cosmos Universitat de Barcelona IEEC-UB Spain Instituto de Astrofísica de Andalucía-CSIC Spain EMFTEL department IPARCOS Universidad Complutense de Madrid Spain Italy INFN Sezione di Trieste Università degli Studi di Udine Italy Italy INAF Osservatorio Astronomico di Roma Italy INFN Sezione di Napoli Italy INFN Sezione di Padova Università degli Studi di Padova Italy The Barcelona Institute of Science and Technology Spain LAPP Univ. Grenoble Alpes Univ. Savoie Mont Blanc CNRS-IN2P3 Annecy France Department of Physics TU Dortmund University Germany Croatia Universität Hamburg Institut für Experimentalphysik Germany Graduate School of Science University of Tokyo Japan Universidad del Azuay Ecuador INAF Osservatorio di Astrofisica e Scienza dello spazio di Bologna Italy Centro Brasileiro de Pesquisas Físicas Brazil Faculty of Physics and Applied Informatics University of Lodz Poland CIEMAT Spain INFN Sezione di Bari Politecnico di Bari Italy INAF Osservatorio Astronomico di Brera Italy University of Geneva Département de physique nucléaire et corpusculaire Switzerland INFN Sezione di Catania Italy Departament de Física CERES-IEEC Universitat Autónoma de Barcelona Spain Italy Università di Pisa INFN Pisa Italy Aix Marseille Univ CNRS IN2P3 CPPM France INFN Sezione di Bari Università di Bari Italy INFN Sezione di Torino Italy ICRANet-Armenia at

The next generation facility for gamma-ray ground-based observations is the Cherenkov Telescope Array (CTA) observatory, which comprises three types of imaging atmospheric Cherenkov telescopes (IACTs). The Large-Sized Telescopes (LSTs) of CTA are the largest telescope type with a mirror dish of 23 m diameter. They cover the low energy end of the accessible gamma-ray energies for IACTs, starting from about 20 GeV up to a few TeV. The first LST prototype, known as LST-1, was officially inaugurated at the Observatorio del Roque de Los Muchachos in La Palma (Canary Islands, Spain) in 2018 and has since performed calibration observations of various known gamma-ray sources. Additionally, the site houses the MAGIC telescopes, two 17 m IACTs situated approximately 100 m away from LST-1, which have been performing stereo observations since 2009. Currently, joint observations between LST-1 and MAGIC are being carried on, and the data taken independently by the two IACT systems is analyzed by combining events via software. However, this method increases the energy threshold, as it discards all but the relatively high-energy events triggered by all three telescopes. To address this issue, we have developed a novel hardware stereo trigger system between LST-1 and MAGIC, which is capable of handling events triggered by any-two out of the three telescopes. In this contribution, we will report on the performance estimation of joint LST-1 and MAGIC observations using the hardware trigger. © Copyright owned by the author(s) under the terms of the Creative Commons.

关键词： Cosmology

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Observation of Active Galactic Nuclei with the Large-Sized Telescope prototype of the Cherenkov Telescope Array 38

Observation of Active Galactic Nuclei with the Large-Sized T...

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38th International Cosmic Ray Conference, ICRC 2023

作者： Takeishi, R. Álvarez Crespo, N. Arbet-Engels, A. Baquero Larriva, A. Baxter, J. Biederbeck, N. Caroff, S. Di Marco, G. Fallah Ramazani, V. Green, D. Heckmann, L. Láinez, M. Nickel, L. Nievas Rosillo, M. Pons, E. Priyadarshi, C. Sanchez, D.A. Vázquez Acosta, M. Abe, K. Abe, S. Aguasca-Cabot, A. Agudo, I. Antonelli, L.A. Aramo, C. Arcaro, C. Artero, M. Asano, K. Aubert, P. Baktash, A. Bamba, A. Baquero Larriva, A. Baroncelli, L. Barres de Almeida, U. Barrio, J.A. Batkovic, I. Becerra González, J. Bernardini, E. Bernardos, M.I. Bernete Medrano, J. Berti, A. Bhattacharjee, P. Bigongiari, C. Bissaldi, E. Blanch, O. Bonnoli, G. Bordas, P. Bulgarelli, A. Burelli, I. Burmistrov, L. Buscemi, M. Cardillo, M. Carosi, A. Carrasco, M.S. Cassol, F. Cauz, D. Cerasole, D. Ceribella, G. Chai, Y. Cheng, K. Chiavassa, A. Chikawa, M. Chytka, L. Cifuentes, A. Contreras, J.L. Cortina, J. Costantini, H. Dalchenko, M. Dazzi, F. De Angelis, A. de Bony de Lavergne, M. De Lotto, B. De Lucia, M. de Menezes, R. Del Peral, L. Deleglise, G. Delgado, C. Delgado Mengual, J. della Volpe, D. Dellaiera, M. Di Piano, A. Di Pierro, F. Di Pilato, A. Di Tria, R. Di Venere, L. Díaz, C. Dominik, R.M. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Eisenberger, L. Elsässer, D. Emery, G. Escudero, J. Ferrara, G. Ferrarotto, F. Fiasson, A. Foffano, L. Freixas Coromina, L. Fröse, S. Fukami, S. Fukazawa, Y. Garcia, E. Garcia López, R. Gasbarra, C. Gasparrini, D. Geyer, D. Giesbrecht Paiva, J. Giglietto, N. Giordano, F. Gliwny, P. Godinovic, N. Grau, R. Gunji, S. Günther, P. Hackfeld, J. Hadasch, D. Hahn, A. Hashiyama, K. Hassan, T. Hayashi, K. Heller, M. HerreraLlorente, J. Hirotani, K. Hoffmann, D. Horns, D. Houles, J. Hrabovsky, M. Hrupec, D. Hui, D. Hütten, M. Iarlori, M. Imazawa, R. Inada, T. Inome, Y. Ioka, K. Iori, M. Ishio, K. Jimenez Martinez, I. Jurysek, J. Kagaya, M. Karas, V. Katagiri, H. Kataoka, J. Kerszberg, D. Kobayashi, Y. Kohri, K. Kong, A. Kubo, H. Kushida, J. Lamanna, G. Lamastra, A. Institute for Cosmic Ray Research University of Tokyo Chiba Kashiwa277-8582 Japan Grupo de Electronica Universidad Complutense de Madrid Av. Complutense s/n Madrid28040 Spain Max-Planck-Institut für Physik Föhringer Ring 6 München80805 Germany IPARCOS-UCM Instituto de Física de Partículas y del Cosmos EMFTEL Department Universidad Complutense de Madrid MadridE-28040 Spain Faculty of Science and Technology Universidad del Azuay Cuenca Ecuador Department of Physics TU Dortmund University Otto-Hahn-Str. 4 Dortmund44227 Germany Univ. Savoie Mont Blanc CNRS Laboratoire d’Annecy de Physique des Particules - IN2P3 Annecy74000 France Instituto de Astrofísica de Canarias Departamento de Astrofísica Universidad de La Laguna Tenerife La Laguna Spain Institut für Theoretische Physik Lehrstuhl IV: Plasma-Astroteilchenphysik Ruhr-Universität Bochum Universitätsstraße 150 Bochum44801 Germany The Barcelona Institute of Science and Technology Campus UAB Bellaterra Barcelona08193 Spain Department of Physics Tokai University Japan Departament de Física Quàntica i Astrofísica Institut de Ciències delCosmos Universitat de Barcelona IEEC-UB Spain Instituto de Astrofísica de Andalucía-CSIC Spain EMFTEL department IPARCOS Universidad Complutense de Madrid Spain INAF - Osservatorio Astronomico di Roma Italy INFN Sezione di Napoli Italy INFN Sezione di Padova Università degli Studi di Padova Italy Universität Hamburg Institut für Experimentalphysik Germany Graduate School of Science University of Tokyo Japan Universidad del Azuay Ecuador INAF - Osservatorio di Astrofisica e Scienza dello spazio di Bologna Italy Centro Brasileiro de Pesquisas Físicas Brazil CIEMAT Spain INFN Sezione di Bari Politecnico di Bari Italy INAF - Osservatorio Astronomico di Brera Italy INFN Sezione di Trieste Università degli Studi di Udine Italy University of Geneva Département de physique nucléaire et corpusculaire Switzerland INFN Sezione di Catania Italy Italy Aix Marseille Uni

Cherenkov Telescope Array (CTA) will be the next generation gamma-ray observatory. It will consist of three different sizes of telescopes, with a collective improvement of about an order of magnitude in sensitivity, compared with the current generation gamma-ray telescopes. LargeSized Telescopes (LSTs) will be the most sensitive at energies from tens of GeV up to a few TeVs, and will be the best suited to observe gamma-ray sources such as Active Galactic Nuclei (AGN). The first Large-Sized Telescope prototype (LST-1), inaugurated in 2018 and currently in commissioning phase, has accumulated more than one thousand hours of data to date. From 2020 to 2022, we have detected various gamma-ray sources, and prominent among them are several well-known AGN, like Mrk 421, Mrk 501, 1ES 1959+650, 1ES 0647+250, PG 1553+113, etc. We report on light curves and energy spectra reconstructed out of these observations down to energies of tens of GeV, which is very close to the energy threshold of LST-1. © Copyright owned by the author(s) under the terms of the Creative Commons.

关键词： Active Galactic Nuclei

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The genome-wide association study of serum IgE levels demonstrated a shared genetic background in allergic diseases

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Clinical immunology (Orlando, Fla.) 2024年 260卷 109897页

作者： Hsing-Fang Lu Chen-Hsing Chou Ying-Ju Lin Shunsuke Uchiyama Chikashi Terao Yu-Wen Wang Jai-Sing Yang Ting-Yuan Liu Henry Sung-Ching Wong Sean Chun-Chang Chen Fuu-Jen Tsai Department of Medical Research China Medical University Hospital Taichung 404327 Taiwan Laboratory for Statistical and Translational Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan. PhD Program for Health Science and Industry College of Health Care China Medical University Taichung Taiwan Department of Health Services Administration China Medical University Taichung Taiwan. Genetic Center Department of Medical Research China Medical University Hospital Taichung Taiwan School of Chinese Medicine China Medical University Taichung Taiwan. Laboratory for Statistical and Translational Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Clinical Research Center Shizuoka General Hospital Shizuoka Japan The Department of Applied Genetics The School of Pharmaceutical Sciences University of Shizuoka Shizuoka Japan. Department of Medical Research China Medical University Hospital Taichung 404327 Taiwan. Department of Medical Research China Medical University Hospital China Medical University Taichung 404327 Taiwan. Graduate Institute of Biomedical Informatics College of Medical Science and Technology Taipei Medical University Taipei Taiwan. School of Chinese Medicine China Medical University Taichung Taiwan Department of Biotechnology and Bioinformatics Asia University Taichung Taiwan. Electronic address: d0704@mail.cmuh.org.tw.

Immunoglobulin E (IgE) synthessis is highly related to a variety of atopic diseases, and several genome-wide association studies (GWASs) have demonstrated the association between genes and IgE level. In this study, we conducted the largest genome-wide association study of IgE involving a Taiwanese Han population. Eight independent variants exhibited genome-wide significance. Among them, an intronic SNP of CD28, rs1181388, and an intergenic SNP, rs1002957030, on 11q23.2 were identified as novel signals for IgE. Seven of the loci were replicated successfully in a meta-analysis using data on Japanese population. Among all the human leukocyte antigen (HLA) regions, HLA-DQA1*03:02 - HLA-DQB1*03:03 was the most significant haplotype (OR = 1.25, SE = 0.02, FDR = 1.6 × 10), corresponding to HLA-DQA1 Asp160 and HLA-DQB1 Leu87 amino acid residues. The genetic correlation showed significance between IgE and allergic diseases including asthma, atopic dermatitis, and pollinosis. IgE PRS was significantly correlated with total IgE levels. Furthermore, the top decile IgE polygenic risk score (PRS) group had the highest risk of asthma for the Taiwan Biobank and Biobank Japan cohorts. IgE PRS may be used to aid in predicting the occurrence of allergic reactions before symptoms occur and biomarkers are detectable. Our study provided a more comprehensive understanding of the impact of genomic variants, including complex HLA alleles, on serum IgE levels.

关键词： Allergy genome-wide association study human leukocyte antigen immunoglobulin E

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7846期590卷 E53-E53页

作者： Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Aggregation, Genome Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7874期597卷 E3-E4页

作者： Gudmundsson, Sanna Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020)

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NATURE 2021年第7846期590卷 E56-E56页

作者： Minikel, Eric Vallabh Karczewski, Konrad J. Martin, Hilary C. Cummings, Beryl B. Whiffin, Nicola Rhodes, Daniel Alfoldi, Jessica Trembath, Richard C. van Heel, David A. Daly, Mark J. Schreiber, Stuart L. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Chemical Biology and Therapeutics Science Program Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Henry and Allison McCance Center for Brain Health Massachusetts General Hospital Boston MA USA Department of Neurology Massachusetts General Hospital Boston MA USA Prion Alliance Cambridge MA USA National Heart and Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Centre for Population Genomics Garvan Institute of Medical Research and UNSW Sydney Sydney Australia Centre for Population Genomics Murdoch Children’s Research Institute Melbourne Australia Divi

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Applications for detection of acute kidney injury using electronic medical records and clinical information systems: Workgroup statements from the 15^th ADQI Consensus Conference

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Canadian Journal of Kidney health and Disease 2016年第1期3卷 9页

作者： James, Matthew T. Hobson, Charles E. Darmon, Michael Mohan, Sumit Hudson, Darren Goldstein, Stuart L. Ronco, Claudio Kellum, John A. Bagshaw, Sean M. Basu, Rajit Bihorac, Azra Chawla, Lakhmir S. Noel Gibney, R.T. Hoste, Eric Hsu, Raymond K. Kane-Gill, Sandra L. Kashani, Kianoush Kramer, Andrew A. Mehta, Ravindra Quan, Hude Shaw, Andrew Selby, Nicholas Siew, Edward Sutherland, Scott M. Perry Wilson, F. Wunsch, Hannah Cumming School of Medicine University of Calgary Departments of Medicine and Community Health Sciences Calgary Canada Departments of Medicine and Community Health Sciences Cumming School of Medicine University of Calgary Calgary Canada Management and Policy University of Florida Department of Health Services Research Gainesville FL United States Department of Health Services Research Management and Policy University of Florida Gainesville FL United States Saint-Etienne University Hospital Department of Intensive Care Medicine Saint-Priest-En-Jarez France Department of Intensive Care Medicine Saint-Etienne University Hospital Saint-Priest-En-Jarez France Columbia University Medical Center Department of Medicine Division of Nephrology New York NY United States Department of Medicine Division of Nephrology College of Physicians and Surgeons Department of Epidemiology Mailman School of Public Health Columbia University New York NY United States Faculty of Medicine and Dentistry University of Alberta Division of Critical Care Medicine Edmonton Canada Division of Critical Care Medicine Faculty of Medicine and Dentistry University of Alberta Edmonton AB Canada Cincinnati Children's Hospital Medical Center Department of Pediatrics Division of Pediatric Nephrology Cincinnati OH United States Department of Pediatrics Division of Pediatric Nephrology Cincinnati Children's Hospital Medical Center Cincinnati OH United States Dialysis and Transplantation International Renal Research Institute of Vicenza San Bortolo Hospital Department of Nephrology Vicenza Italy Department of Nephrology Dialysis and Transplantation International Renal Research Institute of Vicenza San Bortolo Hospital Vicenza Italy University of Pittsburgh Center for Critical Care Nephrology Department of Critical Care Medicine Pittsburgh PA United States Center for Critical Care Nephrology Department of Critical Care Medicine University of Pittsburgh Pittsburgh PA United States Divisio

Electronic medical records and clinical information systems are increasingly used in hospitals and can be leveraged to improve recognition and care for acute kidney injury. This Acute Dialysis Quality Initiative (ADQI) workgroup was convened to develop consensus around principles for the design of automated AKI detection systems to produce real-time AKI alerts using electronic systems. AKI alerts were recognized by the workgroup as an opportunity to prompt earlier clinical evaluation, further testing and ultimately intervention, rather than as a diagnostic label. Workgroup members agreed with designing AKI alert systems to align with the existing KDIGO classification system, but recommended future work to further refine the appropriateness of AKI alerts and to link these alerts to actionable recommendations for AKI care. The consensus statements developed in this review can be used as a roadmap for development of future electronic applications for automated detection and reporting of AKI. © 2016 James et al.

关键词： Acute kidney injury Clinical decision support Clinical informatics Detection

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Introduction to a Culturally Sensitive Measure of Well-Being: Combining Life Satisfaction and Interdependent Happiness Across 49 Different Cultures

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Journal of Happiness Studies 2022年第2期24卷 607-627页

作者： Krys, Kuba Haas, Brian W. Igou, Eric Raymond Kosiarczyk, Aleksandra Kocimska-Bortnowska, Agata Kwiatkowska, Anna Lun, Vivian Miu-Chi Maricchiolo, Fridanna Park, Joonha Šolcová, Iva Poláčková Sirlopú, David Uchida, Yukiko Vauclair, Christin-Melanie Vignoles, Vivian L. Zelenski, John M. Adamovic, Mladen Akotia, Charity S. Albert, Isabelle Appoh, Lily Mira, D. M. Arévalo Baltin, Arno Denoux, Patrick Domínguez-Espinosa, Alejandra Esteves, Carla Sofia Gamsakhurdia, Vladimer Fülöp, Márta Garðarsdóttir, Ragna B. Gavreliuc, Alin Boer, Diana Igbokwe, David O. Işık, İdil Kascakova, Natalia Klůzová Kráčmarová, Lucie Kosakowska-Berezecka, Natasza Kostoula, Olga Kronberger, Nicole Lee, J. Hannah Liu, Xinhui Łużniak-Piecha, Magdalena Malyonova, Arina Barrientos, Pablo Eduardo Mohorić, Tamara Mosca, Oriana Murdock, Elke Mustaffa, Nur Fariza Nader, Martin Nadi, Azar Okvitawanli, Ayu van Osch, Yvette Pavlopoulos, Vassilis Pavlović, Zoran Rizwan, Muhammad Romashov, Vladyslav Røysamb, Espen Sargautyte, Ruta Schwarz, Beate Selim, Heyla A. Serdarevich, Ursula Stogianni, Maria Sun, Chien-Ru Teyssier, Julien van Tilburg, Wijnand A. P. Torres, Claudio Xing, Cai Bond, Michael Harris Institute of Psychology Polish Academy of Sciences Warsaw Poland Department of Psychology University of Georgia Athens USA Department of Psychology University of Limerick Limerick Republic of Ireland Wroclaw Faculty of Psychology SWPS University of Social Sciences and Humanities Wrocław Poland Department of Applied Psychology Lingnan University Tuen Mun Hong Kong Department of Education University of Roma Tre Rome Italy Graduate School of Management NUCB Business School Nagoya Japan Institute of Psychology Czech Academy of Sciences Prague Czech Republic Universidad San Sebastián Concepción Chile Kokoro Research Center Kyoto University Kyoto Japan Center for Advanced Study in the Behavioral Sciences Stanford University Stanford USA Instituto Universitário de Lisboa (ISCTE-IUL) CIS-IUL Lisbon Portugal School of Psychology University of Sussex Brighton UK Department of Psychology Carleton University Ottawa Canada King’s Business School King’s College London UK Department of Psychology School of Social Sciences University of Ghana Accra Ghana Research Unit INSIDE University of Luxembourg Esch-sur-Alzette Luxembourg Faculty of Nursing and Health Sciences Nord University Bodø Norway HULAB San Salvador El Salvador School of Natural Sciences and Health Tallinn University Tallinn Estonia Département Psychologie Clinique Du Sujet Université Toulouse II Toulouse France Psychology Department Iberoamerican University Mexico City Mexico Católica Lisbon School of Business and Economics Universidade Católica Portuguesa Palma de Cima Lisboa Portugal Department of Psychology Ivane Javakhishvili Tbilisi State University Tbilisi Georgia Institute of Psychology Károli Gáspár University of the Reformed Church Budapest Hungary Research Centre of Natural Sciences Institute of Cognitive Neuroscience and Psychology Eötvös Loránd Research Network Budapest Hungary Faculty of Psychology University of Iceland Reykjavík Iceland Department of Psychology West Univ

How can one conclude that well-being is higher in country A than country B, when well-being is being measured according to the way people in country A think about well-being? We address this issue by proposing a new culturally sensitive method to comparing societal levels of well-being. We support our reasoning with data on life satisfaction and interdependent happiness focusing on individual and family, collected mostly from students, across forty-nine countries. We demonstrate that the relative idealization of the two types of well-being varies across cultural contexts and are associated with culturally different models of selfhood. Furthermore, we show that rankings of societal well-being based on life satisfaction tend to underestimate the contribution from interdependent happiness. We introduce a new culturally sensitive method for calculating societal well-being, and examine its construct validity by testing for associations with the experience of emotions and with individualism-collectivism. This new culturally sensitive approach represents a slight, yet important improvement in measuring well-being.

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