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arXiv 2017年

作者： Sengupta, Subhajit Pal, Subhadip Mitra, Riten Guo, Ying Banerjee, Arunava Ji, Yuan Program for Computational Genomics and Medicine NorthShore University HealthSystem Department of Bioinformatics and Biostatistics University of Louisville Department of Biostatistics and Bioinformatics Emory University Department of Computer and Information Science and Engineering University of Florida Department of Public Health Sciences University of Chicago

Analysis of a Bayesian mixture model for the Matrix Langevin distribution on the Stiefel manifold is presented. The model exploits a particular parametrization of the Matrix Langevin distribution, various aspects of which are elaborated on. A general, and novel, family of conjugate priors, and an efficient Markov chain Monte Carlo (MCMC) sampling scheme for the corresponding posteriors is then developed for the mixture model. Theoretical properties of the prior and posterior distributions, including posterior consistency, are explored in detail. Extensive simulation experiments are presented to validate the efficacy of the framework. Real-world examples, including a large scale neuroimaging dataset, are analyzed to demonstrate the computational tractability of the approach. Copyright © 2017, The Authors. All rights reserved.

关键词： Mixtures

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Author Correction: CRISPRi enables isoform-specific loss-of-function screens and identification of gastric cancer-specific isoform dependencies

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Genome biology 2021年第1期22卷 88页

作者： Rebecca Davies Ling Liu Sheng Taotao Natasha Tuano Richa Chaturvedi Kie Kyon Huang Catherine Itman Amit Mandoli Aditi Qamra Changyuan Hu David Powell Roger J Daly Patrick Tan Joseph Rosenbluh Cancer Research Program and Department of Biochemistry and Molecular Biology Biomedicine Discovery Institute Monash University Clayton VIC 3800 Australia. Program in Cancer and Stem Cell Biology Duke-NUS Medical School Singapore 169857 Singapore. Cancer Science Institute of Singapore National University of Singapore Singapore 117599 Singapore. Cancer Therapeutics and Stratified Oncology Genome Institute of Singapore Singapore 138672 Singapore. SingHealth/Duke-NUS Institute of Precision Medicine National Heart Centre Singapore Singapore 169856 Singapore. Cellular and Molecular Research National Cancer Centre Singapore 169610 Singapore. Singapore Gastric Cancer Consortium Singapore 119074 Singapore. Functional Genomics Platform Monash University Clayton VIC 3800 Australia. Monash Bioinformatics Platform Monash University Clayton VIC 3800 Australia. Program in Cancer and Stem Cell Biology Duke-NUS Medical School Singapore 169857 Singapore. gmstanp@dukenus.edu.sg. Cancer Science Institute of Singapore National University of Singapore Singapore 117599 Singapore. gmstanp@dukenus.edu.sg. Cancer Therapeutics and Stratified Oncology Genome Institute of Singapore Singapore 138672 Singapore. gmstanp@dukenus.edu.sg. SingHealth/Duke-NUS Institute of Precision Medicine National Heart Centre Singapore Singapore 169856 Singapore. gmstanp@dukenus.edu.sg. Cellular and Molecular Research National Cancer Centre Singapore 169610 Singapore. gmstanp@dukenus.edu.sg. Singapore Gastric Cancer Consortium Singapore 119074 Singapore. gmstanp@dukenus.edu.sg. Cancer Research Program and Department of Biochemistry and Molecular Biology Biomedicine Discovery Institute Monash University Clayton VIC 3800 Australia. sefi.rosenbluh@monash.edu. Functional Genomics Platform Monash University Clayton VIC 3800 Australia. sefi.rosenbluh@monash.edu.

An amendment to this paper has been published and can be accessed via the original article.

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Single‐cell eQTLGen Consortium: A personalized understanding of disease

arXiv

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arXiv 2019年

作者： van der Wijst, M.G. de Vries, D.H. Groot, H.E. Trynka, G. Hon, C.C. Nawijn, M.C. Idaghdour, Y. van der Harst, P. Ye, C.J. Powell, J. Theis, F.J. Mahfouz, A. Heinig, M. Franke, L. Department of Genetics Oncode Institute University of Groningen University Medical Center Groningen Groningen Netherlands Department of Cardiology University of Groningen University Medical Center Groningen Groningen Netherlands Wellcome Trust Sanger Institute Open Targets Wellcome Genome Campus Hinxton Cambridge United Kingdom RIKEN Center for Integrative Medical Sciences Yokohama Japan Department of Pathology and Medical Biology GRIAC Research institute University of Groningen University Medical Center Groningen Netherlands Program in Biology Public Health Research Center New York University Abu Dhabi United Arab Emirates Institute for Human Genetics Bakar Computational Health Sciences Institute Bakar ImmunoX Initiative Division of Rheumatology Department of Medicine Department of Bioengineering and Therapeutic Sciences Department of Epidemiology and Biostatistics Chan Zuckerberg Biohub University of California San Francisco San Francisco United States Garvan‐Weizmann Centre for Cellular Genomics Garvan Institute Sydney Australia UNSW Cellular Genomics Futures Institute University of New South Wales Sydney Australia Institute of Computational Biology Helmholtz Zentrum München Neuherberg Germany Department of Mathematics Technical University of Munich Garching bei München Germany Leiden Computational Biology Center Leiden University Medical Center Leiden Netherlands Delft Bioinformatics Lab Delft University of Technology Delft Netherlands Institute of Computational Biology Helmholtz Zentrum München Neuherberg Germany Department of Informatics Technical University of Munich Garching bei München Germany

In recent years, functional genomics approaches combining genetic information with bulk RNA-sequencing data have identified the downstream expression effects of disease‐associated genetic risk factors through so‐called expression quantitative trait locus (eQTL) analysis. Single‐cell RNA-sequencing creates enormous opportunities for mapping eQTLs across different cell types and in dynamic processes, many of which are obscured when using bulk methods. The enormous increase in throughput and reduction in cost per cell now allow this technology to be applied to large‐scale population genetics studies. Therefore, we have founded the single‐cell eQTLGen consortium (sc-eQTLGen), aimed at pinpointing disease‐causing genetic variants and identifying the cellular contexts in which they affect gene expression. Ultimately, this information can enable development of personalized medicine. Here, we outline the goals, approach, potential utility and early proofs‐of-concept of the sc‐eQTLGen consortium. We also provide a set of study design considerations for future single‐cell eQTL studies. Copyright © 2019, The Authors. All rights reserved.

关键词： RNA

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Correction to: 2021 Taxonomic update of phylum Negarnaviricota (Riboviria: Orthornavirae), including the large orders Bunyavirales and Mononegavirales

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Archives of virology 2021年第12期166卷 3567-3579页

作者： Jens H Kuhn Scott Adkins Bernard R Agwanda Rim Al Kubrusli Sergey V Alkhovsky Gaya K Amarasinghe Tatjana Avšič-Županc María A Ayllón Justin Bahl Anne Balkema-Buschmann Matthew J Ballinger Christopher F Basler Sina Bavari Martin Beer Nicolas Bejerman Andrew J Bennett Dennis A Bente Éric Bergeron Brian H Bird Carol D Blair Kim R Blasdell Dag-Ragnar Blystad Jamie Bojko Wayne B Borth Steven Bradfute Rachel Breyta Thomas Briese Paul A Brown Judith K Brown Ursula J Buchholz Michael J Buchmeier Alexander Bukreyev Felicity Burt Carmen Büttner Charles H Calisher Mengji Cao Inmaculada Casas Kartik Chandran Rémi N Charrel Qi Cheng Yuya Chiaki Marco Chiapello Il-Ryong Choi Marina Ciuffo J Christopher S Clegg Ian Crozier Elena Dal Bó Juan Carlos de la Torre Xavier de Lamballerie Rik L de Swart Humberto Debat Nolwenn M Dheilly Emiliano Di Cicco Nicholas Di Paola Francesco Di Serio Ralf G Dietzgen Michele Digiaro Olga Dolnik Michael A Drebot J Felix Drexler William G Dundon W Paul Duprex Ralf Dürrwald John M Dye Andrew J Easton Hideki Ebihara Toufic Elbeaino Koray Ergünay Hugh W Ferguson Anthony R Fooks Marco Forgia Pierre B H Formenty Jana Fránová Juliana Freitas-Astúa Jingjing Fu Stephanie Fürl Selma Gago-Zachert George Fú Gāo María Laura García Adolfo García-Sastre Aura R Garrison Thomas Gaskin Jean-Paul J Gonzalez Anthony Griffiths Tony L Goldberg Martin H Groschup Stephan Günther Roy A Hall John Hammond Tong Han Jussi Hepojoki Roger Hewson Jiang Hong Ni Hong Seiji Hongo Masayuki Horie John S Hu Tao Hu Holly R Hughes Florian Hüttner Timothy H Hyndman M Ilyas Risto Jalkanen Dàohóng Jiāng Gilda B Jonson Sandra Junglen Fujio Kadono Karia H Kaukinen Michael Kawate Boris Klempa Jonas Klingström Gary Kobinger Igor Koloniuk Hideki Kondō Eugene V Koonin Mart Krupovic Kenji Kubota Gael Kurath Lies Laenen Amy J Lambert Stanley L Langevin Benhur Lee Elliot J Lefkowitz Eric M Leroy Shaorong Li Longhui Li Jiànróng Lǐ Huazhen Liu Igor S Lukashevich Piet Maes William Marciel de Souza Marco Marklewitz Sergio H Marshall Shin-Yi L Marzano Se Integrated Research Facility at Fort Detrick National Institute of Allergy and Infectious Diseases National Institutes of Health Frederick MD USA. kuhnjens@mail.nih.gov. United States Department of Agriculture Agricultural Research Service US Horticultural Research Laboratory Fort Pierce FL USA. Zoology Department National Museums of Kenya Nairobi Kenya. Jomo Kenyatta University of Agriculture & Technology Nairobi Kenya. Division Phytomedicine Faculty of Life Sciences Humboldt-Universität zu Berlin Berlin Germany. D.I. Ivanovsky Institute of Virology of N.F. Gamaleya National Center on Epidemiology and Microbiology of Ministry of Health of Russian Federation Moscow Russia. Department of Pathology and Immunology Washington University School of Medicine St. Louis MO USA. Faculty of Medicine University of Ljubljana Ljubljana Slovenia. Centro de Biotecnología y Genómica de Plantas Universidad Politécnica de Madrid-Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria Campus de Montegancedo Pozuelo de Alarcón Madrid Spain. Departamento de Biotecnología-Biología Vegetal Escuela Técnica Superior de Ingeniería Agronómica Alimentaria y de Biosistemas Universidad Politécnica de Madrid Madrid Spain. Center for Ecology of Infectious Diseases Department of Infectious Diseases Department of Epidemiology and Biostatistics Insitute of Bioinformatics University of Georgia Athens GA USA. Institute of Novel and Emerging Infectious Diseases Friedrich-Loeffler-Institut Federal Research Institute for Animal Health Greifswald-Insel Riems Germany. Department of Biological Sciences Mississippi State University Mississippi State MS USA. Center for Microbial Pathogenesis Institute for Biomedical Sciences Georgia State University Atlanta GA USA. Edge BioInnovation Consulting and Mgt Frederick MD USA. Institute of Diagnostic Virology Friedrich-Loeffler-Institut Greifswald-Insel Riems Germany. UFyMA INTA-CONICET Cordoba Argentina. Genomics and Bioinformatics D

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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Genetics in medicine : official journal of the American College of Medical Genetics 2021年第12期23卷 2467页

作者： Sacha Ferdinandusse Kirsty McWalter Heleen Te Brinke Lodewijk IJlst Petra M Mooijer Jos P N Ruiter Alida E M van Lint Mia Pras-Raves Eric Wever Francisca Millan Maria J Guillen Sacoto Amber Begtrup Mark Tarnopolsky Lauren Brady Roger L Ladda Susan L Sell Catherine B Nowak Jessica Douglas Cuixia Tian Elizabeth Ulm Seth Perlman Arlene V Drack Karen Chong Nicole Martin Jennifer Brault Elly Brokamp Camilo Toro William A Gahl Ellen F Macnamara Lynne Wolfe Quinten Waisfisz Petra J G Zwijnenburg Alban Ziegler Magalie Barth Rosemarie Smith Sara Ellingwood Deborah Gaebler-Spira Somayeh Bakhtiari Michael C Kruer Antoine H C van Kampen Ronald J A Wanders Hans R Waterham David Cassiman Frédéric M Vaz Laboratory Genetic Metabolic Diseases Amsterdam UMC University of Amsterdam Department of Clinical Chemistry Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam The Netherlands. s.ferdinandusse@amsterdamumc.nl. GeneDx Gaithersburg MD USA. Laboratory Genetic Metabolic Diseases Amsterdam UMC University of Amsterdam Department of Clinical Chemistry Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam The Netherlands. Core Facility Metabolomics Amsterdam UMC Amsterdam The Netherlands. Bioinformatics Laboratory Department of Epidemiology and Data Science Amsterdam Public Health Research Institute Amsterdam UMC University of Amsterdam Amsterdam The Netherlands. Department of Pediatrics McMaster University Children's Hospital Hamilton ON Canada. Department of Pediatrics Penn State Children's Hospital Hershey PA USA. The Feingold Center for Children Division of Genetics and Genomics Boston Children's Hospital Boston MA USA. Division of Neurology Cincinnati Children's Hospital Medical Center Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati OH USA. Department of Neurology University of Iowa Hospitals and Clinics Iowa City IA USA. Department of Ophthalmology and Visual Sciences University of Iowa Iowa City IA USA. Mount Sinai Hospital Department of Obstetrics and Gynecology Prenatal Diagnosis and Medical Genetics Program Toronto ON Canada. Vanderbilt University Medical Center Department of Pediatrics Nashville TN USA. NIH Undiagnosed Diseases Program Office of the Clinical Director National Human Genome Research Institute NIH Bethesda MD USA. Department of Clinical Genetics Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam The Netherlands. Genetic department University Hospital Angers Angers France. Division of Genetics Department of Pediatrics Maine Medical Center Portland ME USA. Feinberg Northwest

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Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer"

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EBiomedicine 2023年 94卷 104709页

作者： Timo Hess Carlo Maj Jan Gehlen Oleg Borisov Stephan L Haas Ines Gockel Michael Vieth Guillaume Piessen Hakan Alakus Yogesh Vashist Carina Pereira Michael Knapp Vitalia Schüller Alexander Quaas Heike I Grabsch Jessica Trautmann Ewa Malecka-Wojciesko Anna Mokrowiecka Jan Speller Andreas Mayr Julia Schröder Axel M Hillmer Dominik Heider Florian Lordick Ángeles Pérez-Aísa Rafael Campo Jesús Espinel Fernando Geijo Concha Thomson Luis Bujanda Federico Sopeña Ángel Lanas María Pellisé Claudia Pauligk Thorsten Oliver Goetze Carolin Zelck Julian Reingruber Emadeldin Hassanin Peter Elbe Sandra Alsabeah Mats Lindblad Magnus Nilsson Nicole Kreuser René Thieme Francesca Tavano Roberta Pastorino Dario Arzani Roberto Persiani Jin-On Jung Henrik Nienhüser Katja Ott Ralf R Schumann Oliver Kumpf Susen Burock Volker Arndt Anna Jakubowska Małgorzta Ławniczak Victor Moreno Vicente Martín Manolis Kogevinas Marina Pollán Justyna Dąbrowska Antonio Salas Olivier Cussenot Anne Boland-Auge Delphine Daian Jean-Francois Deleuze Erika Salvi Maris Teder-Laving Gianluca Tomasello Margherita Ratti Chiara Senti Valli De Re Agostino Steffan Arnulf H Hölscher Katharina Messerle Christiane Josephine Bruns Armands Sīviņš Inga Bogdanova Jurgita Skieceviciene Justina Arstikyte Markus Moehler Hauke Lang Peter P Grimminger Martin Kruschewski Nikolaos Vassos Claus Schildberg Philipp Lingohr Karsten Ridwelski Hans Lippert Nadine Fricker Peter Krawitz Per Hoffmann Markus M Nöthen Lothar Veits Jakob R Izbicki Adrianna Mostowska Federico Martinón-Torres Daniele Cusi Rolf Adolfsson Geraldine Cancel-Tassin Aksana Höblinger Ernst Rodermann Monika Ludwig Gisela Keller Andres Metspalu Hermann Brenner Joerg Heller Markus Neef Michael Schepke Franz Ludwig Dumoulin Lutz Hamann Renato Cannizzaro Michele Ghidini Dominik Plaßmann Michael Geppert Peter Malfertheiner Olivier Glehen Tomasz Skoczylas Marek Majewski Jan Lubiński Orazio Palmieri Stefania Boccia Anna Latiano Nuria Aragones Thomas Schmidt Mário Dinis-Ribeiro Rui Medeiros Salah-Eddin Al-Batran Mārcis Leja Juozas Institute of Human Genetics University of Marburg Marburg Germany Institute of Human Genetics University of Bonn School of Medicine & University Hospital Bonn Bonn Germany. Institute for Genomic Statistics and Bioinformatics Medical Faculty University of Bonn Bonn Germany. Institute of Human Genetics University of Marburg Marburg Germany. Department of Upper GI Diseases Karolinska University Hospital and Unit of Gastroenterology and Rheumatology Karolinska Institutet Stockholm Sweden. Department of Visceral Transplant Thoracic and Vascular Surgery University Hospital Leipzig Leipzig Germany. Institute for Pathology Friedrich-Alexander-University Erlangen-Nuernberg Klinikum Bayreuth Bayreuth Germany. Department of Digestive and Oncological Surgery Claude Huriez Hospital CHU Lille Lille France. Department of General Visceral Cancer and Transplant Surgery University of Cologne Cologne Germany. Department of General Visceral and Thoracic Surgery University Medical Center Hamburg-Eppendorf University of Hamburg Hamburg Germany Centre for Surgical Oncology Medias Klinikum Burghausen Burghausen Germany. Molecular Oncology and Viral Pathology Group IPO Porto Research Center (CI-IPOP) Portuguese Institute of Oncology of Porto (IPO Porto) 4200-072 Porto Portugal Porto Comprehensive Cancer Center & RISE @ CI-IPO University of Porto 4200-450 Porto Portugal. Institute of Medical Biometrics Informatics and Epidemiology (IMBIE) Medical Faculty University of Bonn Bonn Germany. Institute of Pathology University Hospital Cologne Medical Faculty University of Cologne Germany. Department of Pathology GROW School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht the Netherlands Pathology and Data Analytics Leeds Institute of Medical Research at St James's University of Leeds Leeds United Kingdom. Department of Digestive Tract Diseases Medical University of Lodz Lodz Poland. Department of Mathematics and Computer Science Unive

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Author Correction: An atlas of dynamic chromatin landscapes in mouse fetal development

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Nature 2020年第7831期586卷 E31页

作者： David U Gorkin Iros Barozzi Yuan Zhao Yanxiao Zhang Hui Huang Ah Young Lee Bin Li Joshua Chiou Andre Wildberg Bo Ding Bo Zhang Mengchi Wang J Seth Strattan Jean M Davidson Yunjiang Qiu Veena Afzal Jennifer A Akiyama Ingrid Plajzer-Frick Catherine S Novak Momoe Kato Tyler H Garvin Quan T Pham Anne N Harrington Brandon J Mannion Elizabeth A Lee Yoko Fukuda-Yuzawa Yupeng He Sebastian Preissl Sora Chee Jee Yun Han Brian A Williams Diane Trout Henry Amrhein Hongbo Yang J Michael Cherry Wei Wang Kyle Gaulton Joseph R Ecker Yin Shen Diane E Dickel Axel Visel Len A Pennacchio Bing Ren Ludwig Institute for Cancer Research La Jolla CA USA. Center for Epigenomics University of California San Diego School of Medicine La Jolla CA USA. Environmental Genomics and Systems Biology Division Lawrence Berkeley National Laboratory Berkeley CA USA. Department of Surgery and Cancer Imperial College London London UK. Bioinformatics and Systems Biology Graduate Program University of California San Diego La Jolla CA USA. Biomedical Sciences Graduate Program University of California San Diego School of Medicine La Jolla CA USA. Department of Pediatrics University of California San Diego School of Medicine La Jolla CA USA. Department of Cellular and Molecular Medicine University of California San Diego School of Medicine La Jolla CA USA. Department of Biochemistry and Molecular Biology Penn State School of Medicine Hershey PA USA. Stanford University School of Medicine Department of Genetics Stanford CA USA. Genomic Analysis Laboratory Salk Institute for Biological Studies La Jolla CA USA. Division of Biology and Biological Engineering California Institute of Technology Pasadena CA USA. Howard Hughes Medical Institute Salk Institute for Biological Studies La Jolla CA USA. Institute for Human Genetics and University of California San Francisco San Francisco CA USA. Department of Neurology University of California San Francisco San Francisco CA USA. Environmental Genomics and Systems Biology Division Lawrence Berkeley National Laboratory Berkeley CA USA. avisel@lbl.gov. US Department of Energy Joint Genome Institute Berkeley CA USA. avisel@lbl.gov. School of Natural Sciences University of California Merced Merced CA USA. avisel@lbl.gov. Environmental Genomics and Systems Biology Division Lawrence Berkeley National Laboratory Berkeley CA USA. lapennacchio@lbl.gov. US Department of Energy Joint Genome Institute Berkeley CA USA. lapennacchio@lbl.gov. Comparative Biochemistry Program University of California Berkeley Berkeley CA USA

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)

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NATURE GENETICS 2018年第12期50卷 1755-1755页

作者： Evangelou, Evangelos Warren, Helen R. Mosen-Ansorena, David Mifsud, Borbala Pazoki, Raha Gao, He Ntritsos, Georgios Dimou, Niki Cabrera, Claudia P. Karaman, Ibrahim Fu Liang Ng Evangelou, Marina Witkowska, Katarzyna Tzanis, Evan Hellwege, Jacklyn N. Giri, Ayush Edwards, Digna R. Velez Sun, Yan V. Cho, Kelly Gaziano, J. Michael Wilson, Peter W. F. Tsao, Philip S. Kovesdy, Csaba P. Esko, Tonu Magi, Reedik Milani, Lili Almgren, Peter Boutin, Thibaud Debette, Stephanie Ding, Jun Giulianini, Franco Holliday, Elizabeth G. Jackson, Anne U. Li-Gao, Ruifang Lin, Wei-Yu Luan, Jian'an Mangino, Massimo Oldmeadow, Christopher Prins, Bram Peter Qian, Yong Sargurupremraj, Muralidharan Shah, Nabi Surendran, Praveen Theriault, Sebastien Verweij, Niek Willems, Sara M. Zhao, Jing-Hua Amouyel, Philippe Connell, John de Mutsert, Renee Doney, Alex S. F. Farrall, Martin Menni, Cristina Morris, Andrew D. Noordam, Raymond Pare, Guillaume Poulter, Neil R. Shields, Denis C. Stanton, Alice Thom, Simon Abecasis, Goncalo Amin, Najaf Arking, Dan E. Ayers, Kristin L. Barbieri, Caterina M. Batini, Chiara Bis, Joshua C. Blake, Tineka Bochud, Murielle Boehnke, Michael Boerwinkle, Eric Boomsma, Dorret I. Bottinger, Erwin P. Braund, Peter S. Brumat, Marco Campbell, Archie Campbell, Harry Chakravarti, Aravinda Chambers, John C. Chauhan, Ganesh Ciullo, Marina Cocca, Massimiliano Collins, Francis Cordell, Heather J. Davies, Gail de Borst, Martin H. de Geus, Eco J. Deary, Ian J. Deelen, Joris Del Greco, Fabiola M. Demirkale, Cumhur Yusuf Dorr, Marcus Ehret, Georg B. Elosua, Roberto Enroth, Stefan Erzurumluoglu, A. Mesut Ferreira, Teresa Franberg, Mattias Franco, Oscar H. Gandin, Ilaria Gasparini, Paolo Giedraitis, Vilmantas Gieger, Christian Girotto, Giorgia Goel, Anuj Gow, Alan J. Gudnason, Vilmundur Guo, Xiuqing Gyllensten, Ulf Hamsten, Anders Harris, Tamara B. Harris, Sarah E. Hartman, Catharina A. Havulinna, Aki S. Hicks, Andrew A. Hofer, Edith Hofman, Albert Hottenga, Jouke-Jan Huffman, Jennifer E. Hwang, Shih-Jen Ingelsson, Erik James, Alan Jansen Department of Epidemiology and Biostatistics Imperial College London London UK Department of Hygiene and Epidemiology University of Ioannina Medical School Ioannina Greece William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK National Institute for Health Research Barts Cardiovascular Biomedical Research Center Queen Mary University of London London UK MRC-PHE Centre for Environment and Health Imperial College London London UK Department of Mathematics Imperial College London London UK Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Medical Center Tennessee Valley Healthcare System (626)/Vanderbilt University Nashville TN USA Vanderbilt Genetics Institute Vanderbilt Epidemiology Center Department of Obstetrics and Gynecology Vanderbilt University Medical Center Tennessee Valley Health Systems VA Nashville TN USA Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA Department of Biomedical Informatics Emory University School of Medicine Atlanta GA USA Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA Division of Aging Department of Medicine Brigham and Women’s Hospital Department of Medicine Harvard Medical School Boston MA USA Atlanta VAMC and Emory Clinical Cardiovascular Research Institute Atlanta GA USA VA Palo Alto Health Care System Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA Nephrology Section Memphis VA Medical Center and University of Tennessee Health Science Center Memphis TN USA Estonian Genome Center University of Tartu Tartu Estonia Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Department Clinical Sciences Malmö Lund University Malmö Sweden MRC Human Genetics Un

High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.

关键词： Cardiovascular diseases Genome informatics Genome-wide association studies

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Publisher Correction: A meta-analysis of genome-wide association studies identifies multiple longevity genes

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Nature communications 2021年第1期12卷 2463页

作者： Joris Deelen Daniel S Evans Dan E Arking Niccolò Tesi Marianne Nygaard Xiaomin Liu Mary K Wojczynski Mary L Biggs Ashley van der Spek Gil Atzmon Erin B Ware Chloé Sarnowski Albert V Smith Ilkka Seppälä Heather J Cordell Janina Dose Najaf Amin Alice M Arnold Kristin L Ayers Nir Barzilai Elizabeth J Becker Marian Beekman Hélène Blanché Kaare Christensen Lene Christiansen Joanna C Collerton Sarah Cubaynes Steven R Cummings Karen Davies Birgit Debrabant Jean-François Deleuze Rachel Duncan Jessica D Faul Claudio Franceschi Pilar Galan Vilmundur Gudnason Tamara B Harris Martijn Huisman Mikko A Hurme Carol Jagger Iris Jansen Marja Jylhä Mika Kähönen David Karasik Sharon L R Kardia Andrew Kingston Thomas B L Kirkwood Lenore J Launer Terho Lehtimäki Wolfgang Lieb Leo-Pekka Lyytikäinen Carmen Martin-Ruiz Junxia Min Almut Nebel Anne B Newman Chao Nie Ellen A Nohr Eric S Orwoll Thomas T Perls Michael A Province Bruce M Psaty Olli T Raitakari Marcel J T Reinders Jean-Marie Robine Jerome I Rotter Paola Sebastiani Jennifer Smith Thorkild I A Sørensen Kent D Taylor André G Uitterlinden Wiesje van der Flier Sven J van der Lee Cornelia M van Duijn Diana van Heemst James W Vaupel David Weir Kenny Ye Yi Zeng Wanlin Zheng Henne Holstege Douglas P Kiel Kathryn L Lunetta P Eline Slagboom Joanne M Murabito Max Planck Institute for Biology of Ageing Cologne Germany. Joris.Deelen@age.mpg.de. Molecular Epidemiology Department of Biomedical Data Sciences Leiden University Medical Center Leiden The Netherlands. Joris.Deelen@age.mpg.de. California Pacific Medical Center Research Institute San Francisco CA USA. DEvans@***. McKusick-Nathans Institute of Genetic Medicine Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA. Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Department of Clinical Genetics Amsterdam UMC Amsterdam The Netherlands. Delft Bioinformatics Lab Delft University of Technology Delft The Netherlands. The Danish Aging Research Center Department of Public Health University of Southern Denmark Odense C Denmark. BGI-Shenzhen Shenzhen China. China National Genebank BGI-Shenzhen Shenzhen China. Division of Statistical Genomics Department of Genetics Washington University School of Medicine Saint Louis MO USA. Department of Biostatistics University of Washington Seattle WA USA. Cardiovascular Health Research Unit Department of Medicine University of Washington Seattle WA USA. Department of Epidemiology Erasmus MC Rotterdam The Netherlands. Department of Biology Faculty of Natural Science University of Haifa Haifa Israel. Departments of Medicine and Genetics Albert Einstein College of Medicine Bronx NY USA. Institute for Social Research Survey Research Center University of Michigan Ann Arbor MI USA. Department of Biostatistics Boston University School of Public Health Boston MA USA. School of Public Health Department of Biostatistics University of Michigan Ann Arbor MI USA. Icelandic Heart Association Kópavogur Iceland. Department of Clinical Chemistry Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere Faculty of Medicine and Health Technology Tampere University Tampere Finland. I

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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 765, 2017)

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NATURE GENETICS 2018年第5期50卷 765-766页

作者： Turcot, Valerie Lu, Yingchang Highland, Heather M. Schurmann, Claudia Justice, Anne E. Fine, Rebecca S. Bradfield, Jonathan P. Esko, Tonu Giri, Ayush Graff, Mariaelisa Guo, Xiuqing Hendricks, Audrey E. Karaderi, Tugce Lempradl, Adelheid Locke, Adam E. Mahajan, Anubha Marouli, Eirini Sivapalaratnam, Suthesh Young, Kristin L. Alfred, Tamuno Feitosa, Mary F. Masca, Nicholas G. D. Manning, Alisa K. Medina-Gomez, Carolina Mudgal, Poorva Ng, Maggie C. Y. Reiner, Alex P. Vedantam, Sailaja Willems, Sara M. Winkler, Thomas W. Abecasis, Goncalo Aben, Katja K. Alam, Dewan S. Alharthi, Sameer E. Allison, Matthew Amouyel, Philippe Asselbergs, Folkert W. Auer, Paul L. Balkau, Beverley Bang, Lia E. Barroso, Ines Bastarache, Lisa Benn, Marianne Bergmann, Sven Bielak, Lawrence F. Bluher, Matthias Boehnke, Michael Boeing, Heiner Boerwinkle, Eric Boger, Carsten A. Bork-Jensen, Jette Bots, Michiel L. Bottinger, Erwin P. Bowden, Donald W. Brandslund, Ivan Breen, Gerome Brilliant, Murray H. Broer, Linda Brumat, Marco Burt, Amber A. Butterworth, Adam S. Campbell, Peter T. Cappellani, Stefania Carey, David J. Catamo, Eulalia Caulfield, Mark J. Chambers, John C. Chasman, Daniel I. Chen, Yii-Der I. Chowdhury, Rajiv Christensen, Cramer Chu, Audrey Y. Cocca, Massimiliano Collins, Francis S. Cook, James P. Corley, Janie Galbany, Jordi Corominas Cox, Amanda J. Crosslin, David S. Cuellar-Partida, Gabriel D'Eustacchio, Angela Danesh, John Davies, Gail Bakker, Paul I. W. Groot, Mark C. H. Mutsert, Renee Deary, Ian J. Dedoussis, George Demerath, Ellen W. Heijer, Martin Hollander, Anneke I. Ruijter, Hester M. Dennis, Joe G. Denny, Josh C. Angelantonio, Emanuele Drenos, Fotios Du, Mengmeng Dube, Marie-Pierre Dunning, Alison M. Easton, Douglas F. Edwards, Todd L. Ellinghaus, David Ellinor, Patrick T. Elliott, Paul Evangelou, Evangelos Farmaki, Aliki-Eleni Farooqi, I. Sadaf Faul, Jessica D. Fauser, Sascha Feng, Shuang Ferrannini, Ele Ferrieres, Jean Florez, Jose C. Ford, Ian Fornage, Myriam Franco, Oscar H. Franke, Andre Franks, Paul W. Friedrich, Ne Montreal Heart Institute Université de Montréal Montreal Quebec Canada Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University School of Medicine Nashville TN USA Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA Genetics of Obesity and Related Metabolic Traits Program Icahn School of Medicine at Mount Sinai New York NY USA Department of Epidemiology University of North Carolina Chapel Hill NC USA Human Genetics Center University of Texas School of Public Health University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences University of Texas Health Science Center at Houston Houston TX USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Genetics Harvard Medical School Boston MA USA Division of Endocrinology and Center for Basic and Translational Obesity Research Boston Children’s Hospital Boston MA USA Center for Applied Genomics Division of Human Genetics Children’s Hospital of Philadelphia Philadelphia PA USA Quantinuum Research LLC San Diego CA USA Estonian Genome Center University of Tartu Tartu Estonia Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA Institute for Translational Genomics and Population Sciences LABioMed at Harbor-UCLA Medical Center Torrance CA USA Wellcome Trust Sanger Institute Hinxton UK Department of Mathematical and Statistical Sciences University of Colorado Denver CO USA Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK Department of Biological Sciences Faculty of Arts and Sciences Eastern Mediterranean University Famagusta Cyprus Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (***35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

关键词： Genome-wide association studies Obesity

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