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Global investments in pandemic preparedness and COVID-19: development assistance and domestic spending on health between 1990 and 2026

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The Lancet Global Health 2023年第3期11卷 e385-e413页

作者： Micah, Angela E. Bhangdia, Kayleigh Cogswell, Ian E. Lasher, Dylan Lidral-Porter, Brendan Maddison, Emilie R. Nguyen, Trang Nhu Ngoc Patel, Nishali Pedroza, Paola Solorio, Juan Stutzman, Hayley Tsakalos, Golsum Wang, Yifeng Warriner, Wesley Zhao, Yingxi Zlavog, Bianca S. Abbafati, Cristiana Abbas, Jaffar Abbasi-Kangevari, Mohsen Abbasi-Kangevari, Zeinab Abdelmasseh, Michael Abdulah, Deldar Morad Abedi, Aidin Abegaz, Kedir Hussein Abhilash, E.S. Aboagye, Richard Gyan Abolhassani, Hassan Abrigo, Michael R.M. Abubaker Ali, Hiwa Abu-Gharbieh, Eman Adem, Mohammed Hussien Afzal, Muhammad Sohail Ahmadi, Ali Ahmed, Haroon Ahmed Rashid, Tarik Aji, Budi Akbarialiabad, Hossein Akelew, Yibeltal Al Hamad, Hanadi Alam, Khurshid Alanezi, Fahad Mashhour Alanzi, Turki M. Al-Hanawi, Mohammed Khaled Alhassan, Robert Kaba Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Ameyaw, Edward Kwabena Amini-Rarani, Mostafa Amu, Hubert Ancuceanu, Robert Andrei, Tudorel Anwar, Sumadi Lukman Appiah, Francis Aqeel, Muhammad Arabloo, Jalal Arab-Zozani, Morteza Aravkin, Aleksandr Y. Aremu, Olatunde Aruleba, Raphael Taiwo Athari, Seyyed Shamsadin Avila-Burgos, Leticia Ayanore, Martin Amogre Azari, Samad Baig, Atif Amin Bantie, Abere Tilahun Barrow, Amadou Baskaran, Pritish Basu, Sanjay Batiha, Abdul-Monim Mohammad Baune, Bernhard T. Berezvai, Zombor Bhardwaj, Nikha Bhardwaj, Pankaj Bhaskar, Sonu Boachie, Micheal Kofi Bodolica, Virginia Botelho, João Silva Botelho Braithwaite, Dejana Breitborde, Nicholas J.K. Busse, Reinhard Cahuana-Hurtado, Lucero Catalá-López, Ferrán Chansa, Collins Charan, Jaykaran Chattu, Vijay Kumar Chen, Simiao Chukwu, Isaac Sunday Dadras, Omid Dandona, Lalit Dandona, Rakhi Dargahi, Abdollah Debela, Sisay Abebe Denova-Gutiérrez, Edgar Desye, Belay Dharmaratne, Samath Dhamminda Diao, Nancy Doan, Linh Phuong Dodangeh, Milad dos Santos, Wendel Mombaque Doshmangir, Leila Dube, John Eini, Ebrahim El Sayed Zaki, Maysaa El Tantawi, Maha Enyew, Daniel Berhanie Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Applied Mathematics University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Nuffield Department of Medicine University of Oxford Oxford United Kingdom Department of Juridical and Economic Studies La Sapienza University Rome Italy Antai College of Economics Shanghai Jiao Tong University Shanghai China Non-communicable Diseases Research Center Tehran University of Medical Sciences Tehran Iran Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Multiple Sclerosis Research Center Tehran University of Medical Sciences Tehran Iran Children’s Medical Center Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Tehran Heart Center Tehran University of Medical Sciences Tehran Iran Faculty of Medicine Tehran University of Medical Sciences Tehran Iran National Institute for Health Research Tehran University of Medical Sciences Tehran Iran Department of Pharmacology Tehran University of Medical Sciences Tehran Iran Department of Cardiology Tehran University of Medical Sciences Tehran Iran Sina Trauma and Surgery Research Center Tehran University of Medical Sciences Tehran Iran Digestive Diseases Research Institute Tehran University of Medical Sciences Tehran Iran Department of Neurology Tehran University of Medical Sciences Tehran Iran Social Determinants of Health Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Epidemiology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Health Economics and Statistics Shahid Beheshti University of Medical Sciences Tehran Iran Department of Neurosurgery Shahid Beheshti University of Medical Sciences Tehran Iran Ophthalmic R

Background: The COVID-19 pandemic highlighted gaps in health surveillance systems, disease prevention, and treatment globally. Among the many factors that might have led to these gaps is the issue of the financing of national health systems, especially in low-income and middle-income countries (LMICs), as well as a robust global system for pandemic preparedness. We aimed to provide a comparative assessment of global health spending at the onset of the pandemic;characterise the amount of development assistance for pandemic preparedness and response disbursed in the first 2 years of the COVID-19 pandemic;and examine expectations for future health spending and put into context the expected need for investment in pandemic preparedness. Methods: In this analysis of global health spending between 1990 and 2021, and prediction from 2021 to 2026, we estimated four sources of health spending: development assistance for health (DAH), government spending, out-of-pocket spending, and prepaid private spending across 204 countries and territories. We used the Organisation for Economic Co-operation and Development (OECD)'s Creditor Reporting System (CRS) and the WHO Global Health Expenditure Database (GHED) to estimate spending. We estimated development assistance for general health, COVID-19 response, and pandemic preparedness and response using a keyword search. Health spending estimates were combined with estimates of resources needed for pandemic prevention and preparedness to analyse future health spending patterns, relative to need. Findings: In 2019, at the onset of the COVID-19 pandemic, US$9·2 trillion (95% uncertainty interval [UI] 9·1–9·3) was spent on health worldwide. We found great disparities in the amount of resources devoted to health, with high-income countries spending $7·3 trillion (95% UI 7·2–7·4) in 2019;293·7 times the $24·8 billion (95% UI 24·3–25·3) spent by low-income countries in 2019. That same year, $43·1 billion in development assistance was provided

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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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Subnational mapping of HIV incidence and mortality among individuals aged 15–49 years in sub-Saharan Africa, 2000–18: a modelling study

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The Lancet HIV 2021年第6期8卷 e363-e375页

作者： Sartorius, Benn VanderHeide, John D. Yang, Mingyou Goosmann, Erik A. Hon, Julia Haeuser, Emily Cork, Michael A. Perkins, Samantha Jahagirdar, Deepa Schaeffer, Lauren E. Serfes, Audrey L. LeGrand, Kate E. Abbastabar, Hedayat Abebo, Zeleke Hailemariam Abosetugn, Akine Eshete Abu-Gharbieh, Eman Accrombessi, Manfred Mario Kokou Adebayo, Oladimeji M. Adegbosin, Adeyinka Emmanuel Adekanmbi, Victor Adetokunboh, Olatunji O. Adeyinka, Daniel Adedayo Ahinkorah, Bright Opoku Ahmadi, Keivan Ahmed, Muktar Beshir Akalu, Yonas Akinyemi, Oluwaseun Oladapo Akinyemi, Rufus Olusola Aklilu, Addis Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Noore Alamneh, Alehegn Aderaw Alanzi, Turki M. Alemu, Biresaw Wassihun Alhassan, Robert Kaba Ali, Tilahun Alipour, Vahid Amini, Saeed Ancuceanu, Robert Ansari, Fereshteh Anteneh, Zelalem Alamrew Anvari, Davood Anwer, Razique Appiah, Seth Christopher Yaw Arabloo, Jalal Asemahagn, Mulusew A. Asghari Jafarabadi, Mohammad Asmare, Wondwossen Niguse Atnafu, Desta Debalkie Atout, Maha Moh'd Wahbi Atreya, Alok Ausloos, Marcel Awedew, Atalel Fentahun Ayala Quintanilla, Beatriz Paulina Ayanore, Martin Amogre Aynalem, Yared Asmare Ayza, Muluken Altaye Azari, Samad Azene, Zelalem Nigussie Babar, Zaheer-Ud-Din Baig, Atif Amin Balakrishnan, Senthilkumar Banach, Maciej Bärnighausen, Till Winfried Basu, Sanjay Bayati, Mohsen Bedi, Neeraj Bekuma, Tariku Tesfaye Bezabhe, Woldesellassie M. Mequanint Bhagavathula, Akshaya Srikanth Bhardwaj, Pankaj Bhattacharyya, Krittika Bhutta, Zulfiqar A. Bibi, Sadia Bikbov, Boris Birhan, Tsegaye Adane Bitew, Zebenay Workneh Bockarie, Moses John Boloor, Archith Brady, Oliver J. Bragazzi, Nicola Luigi Briko, Andrey Nikolaevich Briko, Nikolay Ivanovich Burugina Nagaraja, Sharath Butt, Zahid A. Cárdenas, Rosario Carvalho, Felix Charan, Jaykaran Chatterjee, Souranshu Chattu, Soosanna Kumary Chattu, Vijay Kumar Chowdhury, Mohiuddin Ahsanul Kabir Chu, Dinh-Toi Cook, Aubrey J. Cormier, Natalie Maria Cowden, Richard G. Culquichicon, Carlos Dagnew, Baye Dahlawi, Saad M.A. D Centre for Tropical Medicine and Global Health Nuffield Department of Medicine University of Oxford Oxford United Kingdom Malaria Atlas Project University of Oxford Oxford United Kingdom The George Institute for Global Health University of Oxford Oxford United Kingdom Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Global Health University of Washington Seattle WA United States Department of Medicine University of Washington Seattle WA United States Insights Program Bill and Melinda Gates Foundation Seattle WA United States Global Programs Medical Teams International Seattle WA United States Department of Pediatric Newborn Medicine Brigham and Women's Hospital Boston MA United States Advanced Diagnostic and Interventional Radiology Research Center Tehran University of Medical Sciences Tehran Iran Multiple Sclerosis Research Center Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Pediatric Chronic Kidney Disease Research Center Tehran University of Medical Sciences Tehran Iran Department of Environmental Health Engineering Tehran University of Medical Sciences Tehran Iran Metabolomics and Genomics Research Center Tehran University of Medical Sciences Tehran Iran Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Department of Public Health Arba Minch University Arba Minch Ethiopia Department of Medical Laboratory Sciences Arba Minch University Arba Minch Ethiopia College of Medicine and Health Science Arba Minch University Arba Minch Ethiopia Department of Nursing Arba Minch University Arba Minch Ethiopia Department of Biomedical Sciences Arba Minch University Arba Minch Ethiopia Department of Public Health Debre Berhan University Debre Brehan

Background: High-resolution estimates of HIV burden across space and time provide an important tool for tracking and monitoring the progress of prevention and control efforts and assist with improving the precision and efficiency of targeting efforts. We aimed to assess HIV incidence and HIV mortality for all second-level administrative units across sub-Saharan Africa. Methods: In this modelling study, we developed a framework that used the geographically specific HIV prevalence data collected in seroprevalence surveys and antenatal care clinics to train a model that estimates HIV incidence and mortality among individuals aged 15–49 years. We used a model-based geostatistical framework to estimate HIV prevalence at the second administrative level in 44 countries in sub-Saharan Africa for 2000–18 and sought data on the number of individuals on antiretroviral therapy (ART) by second-level administrative unit. We then modified the Estimation and Projection Package (EPP) to use these HIV prevalence and treatment estimates to estimate HIV incidence and mortality by second-level administrative unit. Findings: The estimates suggest substantial variation in HIV incidence and mortality rates both between and within countries in sub-Saharan Africa, with 15 countries having a ten-times or greater difference in estimated HIV incidence between the second-level administrative units with the lowest and highest estimated incidence levels. Across all 44 countries in 2018, HIV incidence ranged from 2·8 (95% uncertainty interval 2·1–3·8) in Mauritania to 1585·9 (1369·4–1824·8) cases per 100 000 people in Lesotho and HIV mortality ranged from 0·8 (0·7–0·9) in Mauritania to 676·5 (513·6–888·0) deaths per 100 000 people in Lesotho. Variation in both incidence and mortality was substantially greater at the subnational level than at the national level and the highest estimated rates were accordingly higher. Among second-level administrative units, Guijá District, Gaza Province, Mozambique,

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Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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Nature communications 2021年第1期12卷 2986页

作者： Juliette Coignard Michael Lush Jonathan Beesley Tracy A O'Mara Joe Dennis Jonathan P Tyrer Daniel R Barnes Lesley McGuffog Goska Leslie Manjeet K Bolla Muriel A Adank Simona Agata Thomas Ahearn Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Norbert Arnold Kristan J Aronson Banu K Arun Annelie Augustinsson Jacopo Azzollini Daniel Barrowdale Caroline Baynes Heko Becher Marina Bermisheva Leslie Bernstein Katarzyna Białkowska Carl Blomqvist Stig E Bojesen Bernardo Bonanni Ake Borg Hiltrud Brauch Hermann Brenner Barbara Burwinkel Saundra S Buys Trinidad Caldés Maria A Caligo Daniele Campa Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Wendy K Chung Kathleen B M Claes Christine L Clarke J Margriet Collée Don M Conroy Kamila Czene Mary B Daly Peter Devilee Orland Diez Yuan Chun Ding Susan M Domchek Thilo Dörk Isabel Dos-Santos-Silva Alison M Dunning Miriam Dwek Diana M Eccles A Heather Eliassen Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Henrik Flyger Florentia Fostira Eitan Friedman Lin Fritschi Debra Frost Manuela Gago-Dominguez Susan M Gapstur Judy Garber Vanesa Garcia-Barberan Montserrat García-Closas José A García-Sáenz Mia M Gaudet Simon A Gayther Andrea Gehrig Vassilios Georgoulias Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Steven N Hart Wei He Frans B L Hogervorst Antoinette Hollestelle John L Hopper Darling J Horcasitas Peter J Hulick David J Hunter Evgeny N Imyanitov Agnes Jager Anna Jakubowska Paul A James Uffe Birk Jensen Esther M John Michael E Jones Rudolf Kaaks Pooja Middha Kapoor Beth Y Karlan Renske Keeman Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Veli-Matti Kosma Peter Kraft Allison W Kurian Yael Laitman Diether Lambrechts Loic Le Marchand Jenny Lester Fabienne Lesueur Tricia Lindstrom Adria Lopez-Fernández Jennifer T Loud Craig Luccarini Arto Mannermaa Siranou Genetic Epidemiology of Cancer team Inserm U900 Paris France. Institut Curie Paris Paris France. Mines ParisTech Fontainebleau Paris France. Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK. PSL University Paris Paris France. Paris Sud University Orsay France. Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute Brisbane QLD Australia. Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK. Family Cancer Clinic The Netherlands Cancer Institute Antoni van Leeuwenhoek hospital Amsterdam The Netherlands. Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOV - IRCCS Padua Italy. Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA. Department of Clinical Genetics Helsinki University Hospital University of Helsinki Helsinki Finland. Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto ON Canada. Department of Molecular Genetics University of Toronto Toronto ON Canada. Department of Epidemiology Genetic Epidemiology Research Institute University of California Irvine Irvine CA USA. Division of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ) Heidelberg Germany. Department of Gynaecology and Obstetrics University Hospital of Schleswig-Holstein Campus Kiel Christian-Albrechts University Kiel Kiel Germany. Institute of Clinical Molecular Biology University Hospital of Schleswig-Holstein Campus Kiel Christian-Albrechts University Kiel Kiel Germany. Department of Public Health Sciences and Cancer Research Institute Queen's University Kingston ON Canada. Department of Breast Medical Oncology University of Texas MD Anderson Cancer Center Houston TX USA. Department of Cancer Epidemiology Clinical Sciences

A Correction to this paper has been published: https://***/10.1038/s41467-021-23162-4.

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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

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NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

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NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine Ne

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Optimism predicts sustained vigorous physical activity in postmenopausal women

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Preventive Medicine Reports 2017年 8卷 286-293页

作者： Progovac, Ana M. Donohue, Julie M. Matthews, Karen A. Chang, Chung-Chou H. Habermann, Elizabeth B. Kuller, Lewis H. Saquib, Juliann LaMonte, Michael J. Salmoirago-Blotcher, Elena Zaslavsky, Oleg Tindle, Hilary A. Health Equity Research Lab Department of Psychiatry Cambridge Health Alliance Cambridge MA United States Department of Psychiatry Harvard Medical School Boston MA United States Department of Health Policy & Management University of Pittsburgh Graduate School of Public Health Pittsburgh PA United States Department of Psychiatry University of Pittsburgh School of Medicine Pittsburgh PA United States Department of Biostatistics University of Pittsburgh Pittsburgh PA United States Department of Medicine University of Pittsburgh School of Medicine Pittsburgh PA United States Mayo Clinic Robert D and Patricia E Kern Center for the Science of Health Care Delivery Surgical Outcomes Program Rochester MN United States Department of Epidemiology University of Pittsburgh Graduate School of Public Health Pittsburgh PA United States Department of Family and Community Medicine College of Medicine Qassim University Saudi Arabia Department of Epidemiology and Environmental Health School of Public Health and Health Professions University at Buffalo Buffalo NY United States Department of Medicine Warren Alpert School of Medicine Brown University Providence RI United States Department of Epidemiology Brown University School of Public Health Providence RI United States Centers for Behavioral and Preventive Medicine The Miriam Hospital Providence RI United States Department of Biobehavioral Nursing and Health Informatics University of Washington School of Nursing Seattle WA United States Department of Medicine Vanderbilt University Medical Center Nashville TN United States

Optimism and cynical hostility are associated with health behaviors and health outcomes, including morbidity and mortality. This analysis assesses their association with longitudinal vigorous physical activity (PA) in postmenopausal women of the Women's Health Initiative (WHI). Subjects include 73,485 women nationwide without history of cancer or cardiovascular disease (CVD), and no missing baseline optimism, cynical hostility, or PA data. The Life Orientation Test-Revised Scale measured optimism. A Cook Medley questionnaire subscale measured cynical hostility. Scale scores were divided into quartiles. Vigorous PA three times or more per week was assessed via self-report at study baseline (1994–1998) and through follow-up year 6. Descriptive analysis mapped lifetime trajectories of vigorous PA (recalled at ages 18, 25, 50;prospectively assessed at baseline, and 3 and 6 years later). Hierarchical generalized linear mixed models examined the prospective association between optimism, cynical hostility, and vigorous PA over 6 years. Models adjusted for baseline sociodemographic variables, psychosocial characteristics, and health conditions and behaviors. Vigorous PA rates were highest for most optimistic women, but fell for all women by approximately 60% between age 50 and study baseline. In adjusted models from baseline through year 6, most vs. least optimistic women were 15% more likely to exercise vigorously (p < 0.001). Cynical hostility was not associated with lower odds of longitudinal vigorous PA after adjustment. Results did not differ by race/ethnicity or socioeconomic status. Higher optimism is associated with maintaining vigorous PA over time in post-menopausal women, and may protect women's health over the lifespan. © 2017 The Authors

关键词： Aging Cynical hostility Optimism Physical activity women's health

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Racial/ethnic differences in the epidemiology of ovarian cancer: a pooled analysis of 12 case-control studies (vol 47, pg 460, 2018)

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INTERNATIONAL JOURNAL OF epidemiology 2018年第3期47卷 1011-1011页

作者： Peres, Lauren C. Risch, Harvey Terry, Kathryn L. Webb, Penelope M. Goodman, Marc T. Wu, Anna H. Alberg, Anthony J. Bandera, Elisa V. Barnholtz-Sloan, Jill Bondy, Melissa L. Cote, Michele L. Funkhouser, Ellen Moorman, Patricia G. Peters, Edward S. Schwartz, Ann G. Terry, Paul D. Manichaikul, Ani Abbott, Sarah E. Camacho, Fabian Jordan, Susan J. Nagle, Christina M. Rossing, Mary Anne Doherty, Jennifer A. Modugno, Francesmary Moysich, Kirsten Ness, Roberta Berchuck, Andrew Cook, Linda Le, Nhu Brooks-Wilson, Angela Sieh, Weiva Whittemore, Alice McGuire, Valerie Rothstein, Joseph Anton-Culver, Hoda Ziogas, Argyrios Pearce, Celeste L. Tseng, Chiuchen Pike, Malcom Schildkraut, Joellen M. Department of Public Health Sciences University of Virginia Charlottesville VA USA Corresponding author. University of Virginia Department of Public Health Sciences P.O. Box 800765 Charlottesville VA 22908 USA. E-mail: lcp3t@virginia.edu Department of Chronic Disease Epidemiology Yale School of Public Health New Haven CT USA Obstetrics and Gynecology Epidemiology Center Brigham and Women’s Hospital Boston MA USAHarvard T. H. Chan School of Public Health Boston MA USA Population Health Department QIMR Berghofer Medical Research Institute Brisbane QLD Australia Samuel Oschin Comprehensive Cancer InstituteCommunity and Population Health Research Institute Cedars-Sinai Medical Center Los Angeles CA USA Department of Preventive Medicine University of Southern California Norris Comprehensive Cancer Center Los Angeles CA USA Hollings Cancer Center Medical University of South Carolina Charleston SC USA Cancer Prevention and Control Program Rutgers Cancer Institute of New Jersey New Brunswick NJ USA Case Comprehensive Cancer Center Case Western Reserve University School of Medicine Cleveland OH USA Cancer Prevention and Population Sciences Program Baylor College of Medicine Houston TX USA Karmanos Cancer Institute Population Studies and Disparities Research Program Wayne State University School of Medicine Detroit MI USA Division of Preventive Medicine University of Alabama at Birmingham Birmingham AL USA Department of Community and Family Medicine Duke University Medical Center Durham NC USA Department of Epidemiology Louisiana State University Health Sciences Center School of Public Health New Orleans LA USA Karmanos Cancer Institute Population Studies and Disparities Research Program Wayne State University School of Medicine Detroit MI USA Graduate School of Medicine University of Tennessee Medical Center Knoxville TN USA Department of Public Health Sciences University of Virginia Charlottesville VA USACenter for Public Health Genomics Univers

BackgroundOvarian cancer incidence differs substantially by race/ethnicity, but the reasons for this are not well understood. Data were pooled from the African American Cancer epidemiology Study (AACES) and 11 case-control studies in the Ovarian Cancer Association Consortium (OCAC) to examine racial/ethnic differences in epidemiological characteristics with suspected involvement in epithelial ovarian cancer (EOC) *** used multivariable logistic regression to estimate associations for 17 reproductive, hormonal and lifestyle characteristics and EOC risk by race/ethnicity among 10 924 women with invasive EOC (8918 Non-Hispanic Whites, 433 Hispanics, 911 Blacks, 662 Asian/Pacific Islanders) and 16 150 controls (13 619 Non-Hispanic Whites, 533 Hispanics, 1233 Blacks, 765 Asian/Pacific Islanders). Likelihood ratio tests were used to evaluate heterogeneity in the risk factor associations by race/*** observed statistically significant racial/ethnic heterogeneity for hysterectomy and EOC risk (P = 0.008), where the largest odds ratio (OR) was observed in Black women [OR = 1.64, 95% confidence interval (CI) = 1.34-2.02] compared with other racial/ethnic groups. Although not statistically significant, the associations for parity, first-degree family history of ovarian or breast cancer, and endometriosis varied by race/ethnicity. Asian/Pacific Islanders had the greatest magnitude of association for parity (≥3 births: OR = 0.38, 95% CI = 0.28-0.54), and Black women had the largest ORs for family history (OR = 1.77, 95% CI = 1.42-2.21) and endometriosis (OR = 2.42, 95% CI = 1.65-3.55).ConclusionsAlthough racial/ethnic heterogeneity was observed for hysterectomy, our findings support the validity of EOC risk factors across all racial/ethnic groups, and further suggest that any racial/ethnic population with a higher prevalence of a modifiable risk factor should be targeted to disseminate information about prevention.

关键词： african american asian birth blacks breast cancer cancer epidemiology causality endometriosis epidemiology epithelial ovarian cancer ethnic differences ethnic group heterogeneity hispanics or latinos hysterectomy life style likelihood ratio ovarian cancer pacific islanders parity prevention reproductive physiological process whites

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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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Correction: Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients

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Translational psychiatry 2022年第1期12卷 278页

作者： Klaus Oliver Schubert Anbupalam Thalamuthu Azmeraw T Amare Joseph Frank Fabian Streit Mazda Adl Nirmala Akula Kazufumi Akiyama Raffaella Ardau Bárbara Arias Jean-Michel Aubry Lena Backlund Abesh Kumar Bhattacharjee Frank Bellivier Antonio Benabarre Susanne Bengesser Joanna M Biernacka Armin Birner Cynthia Marie-Claire Micah Cearns Pablo Cervantes Hsi-Chung Chen Caterina Chillotti Sven Cichon Scott R Clark Cristiana Cruceanu Piotr M Czerski Nina Dalkner Alexandre Dayer Franziska Degenhardt Maria Del Zompo J Raymond DePaulo Bruno Étain Peter Falkai Andreas J Forstner Louise Frisen Mark A Frye Janice M Fullerton Sébastien Gard Julie S Garnham Fernando S Goes Maria Grigoroiu-Serbanescu Paul Grof Ryota Hashimoto Joanna Hauser Urs Heilbronner Stefan Herms Per Hoffmann Liping Hou Yi-Hsiang Hsu Stephane Jamain Esther Jiménez Jean-Pierre Kahn Layla Kassem Po-Hsiu Kuo Tadafumi Kato John Kelsoe Sarah Kittel-Schneider Ewa Ferensztajn-Rochowiak Barbara König Ichiro Kusumi Gonzalo Laje Mikael Landén Catharina Lavebratt Marion Leboyer Susan G Leckband Mario Maj Mirko Manchia Lina Martinsson Michael J McCarthy Susan McElroy Francesc Colom Marina Mitjans Francis M Mondimore Palmiero Monteleone Caroline M Nievergelt Markus M Nöthen Tomas Novák Claire O'Donovan Norio Ozaki Urban Ösby Sergi Papiol Andrea Pfennig Claudia Pisanu James B Potash Andreas Reif Eva Reininghaus Guy A Rouleau Janusz K Rybakowski Martin Schalling Peter R Schofield Barbara W Schweizer Giovanni Severino Tatyana Shekhtman Paul D Shilling Katzutaka Shimoda Christian Simhandl Claire M Slaney Alessio Squassina Thomas Stamm Pavla Stopkova Fasil Tekola-Ayele Alfonso Tortorella Gustavo Turecki Julia Veeh Eduard Vieta Stephanie H Witt Gloria Roberts Peter P Zandi Martin Alda Michael Bauer Francis J McMahon Philip B Mitchell Thomas G Schulze Marcella Rietschel Bernhard T Baune Discipline of Psychiatry School of Medicine University of Adelaide Adelaide SA Australia. Northern Adelaide Local Health Network Mental Health Services Adelaide SA Australia. Centre for Healthy Brain Ageing (CHeBA) School of Psychiatry University of New South Wales Sydney NSW Australia. Department of Genetic Epidemiology in Psychiatry Central Institute of Mental Health Medical Faculty Mannheim University of Heidelberg Mannheim Germany. Department of Psychiatry and Psychotherapy Charité-Universitätsmedizin Berlin Campus Charité Mitte Berlin Germany. Intramural Research Program National Institute of Mental Health National Institutes of Health US Department of Health & Human Services Bethesda MD USA. Department of Biological Psychiatry and Neuroscience Dokkyo Medical University School of Medicine Mibu Tochigi Japan. Unit of Clinical Pharmacology Hospital University Agency of Cagliari Cagliari Italy. Unitat de Zoologia i Antropologia Biològica (Dpt. Biologia Evolutiva Ecologia i Ciències Ambientals) Facultat de Biologia and Institut de Biomedicina (IBUB) University of Barcelona CIBERSAM Barcelona Spain. Department of Psychiatry Mood Disorders Unit HUG-Geneva University Hospitals Geneva Switzerland. Department of Molecular Medicine and Surgery Karolinska Institute Stockholm Sweden and Center for Molecular Medicine Karolinska University Hospital Stockholm Sweden. Department of Psychiatry University of California San Diego San Diego CA USA. INSERM UMR-S 1144 Université Paris Diderot Département de Psychiatrie et de Médecine Addictologique AP-HP Groupe Hospitalier Saint-Louis-Lariboisière-F.Widal Paris France. Bipolar Disorder Program Institute of Neuroscience Hospital Clinic University of Barcelona IDIBAPS CIBERSAM Barcelona Catalonia Spain. Department of Psychiatry and Psychotherapeutic Medicine Research Unit for bipolar affective disorder Medical University of Graz Graz Austria. Department of Psychiatry and Psychology Mayo Clinic Rochester M

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