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Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23 (vol 42, pg 2000, 2021)

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EUROPEAN HEART JOURNAL 2021年第20期42卷 2011-2011页

作者： Garnier, S. Sorbonne Université INSERM UMR-S1166 Research Unit on Cardiovascular Disorders Metabolism and Nutrition Team Genomics & Pathophysiology of Cardiovascular Diseases Paris 75013 France ICAN Institute for Cardiometabolism and Nutrition Paris 75013 France Department of Cardiology Division Heart & Lungs University Medical Center Utrecht Utrecht University Utrecht the Netherlands Regenerative Medicine Center University Medical Center Utrecht Utrecht the Netherlands Interfaculty Institute for Genetics and Functional Genomics Department of Functional Genomics University Medicine Greifswald Greifswald Germany DZHK (German Centre for Cardiovascular Research) partner site Greifswald Greifswald Germany Laboratory of Clinical Chemistry and Haematology University Medical Center Heidelberglaan 100 Utrecht the Netherlands Laboratory of Experimental Cardiology University Medical Center Utrecht Heidelberglaan 100 Utrecht the Netherlands Institute of Gender in Medicine and Center for Cardiovascular Research Charite University Hospital Berlin Germany DZHK (German Center for Cardiovascular Research) Berlin Germany Department of Internal Medicine Division of Cardiology Medical University of Vienna Austria Department of Internal Medicine Medical University of Regensburg Germany Penn Cardiovascular Institute and Department of Medicine Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Cardiology Department APHP Pitié-Salpêtrière Hospital Paris France IRCCS Fondazione Policlinico San Matteo Pavia Italy National Heart and Lung Institute Imperial College London London UK National Heart Centre Singapore Singapore Duke-NUS Singapore Center for Applied Genomics Children’s Hospital of Philadelphia Philadelphia PA USA Department of Genetic Epidemiology University of Regensburg Regensburg Germany Royal Brompton Hospital London UK Medical Research Council Clinical Sciences Centre Faculty of Medicine Imperial College London South Kensington Campus London

Aims Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart *** and results We conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10−8 and 1.4 × 10−3 in the discovery and replication steps, respectively), while confirming two previously identified DCM loci on chromosomes 10 and 1, BAG3 and HSPB7. A genetic risk score constructed from the number of risk alleles at these four DCM loci revealed a 3-fold increased risk of DCM for individuals with 8 risk alleles compared to individuals with 5 risk alleles (median of the referral population). In silico annotation and functional 4C-sequencing analyses on iPSC-derived cardiomyocytes identify SLC6A6 as the most likely DCM gene at the 3p25.1 locus. This gene encodes a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals. At the 22q11.23 locus, in silico and data mining annotations, and to a lesser extent functional analysis, strongly suggest SMARCB1 as the candidate culprit *** This study provides a better understanding of the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure.

关键词： Dilated cardiomyopathy Heart failure GWAS Imputation 4C-sequencing Genetic risk score

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High-depth african genomes inform human migration and health (vol 586, pg 741, 2020)

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NATURE 2021年第7856期592卷 E26-E26页

作者： Choudhury, Ananyo Aron, Shaun Botigue, Laura R. Sengupta, Dhriti Botha, Gerrit Bensellak, Taoufik Wells, Gordon Kumuthini, Judit Shriner, Daniel Fakim, Yasmina J. Ghoorah, Anisah W. Dareng, Eileen Odia, Trust Falola, Oluwadamilare Adebiyi, Ezekiel Hazelhurst, Scott Mazandu, Gaston Nyangiri, Oscar A. Mbiyavanga, Mamana Benkahla, Alia Kassim, Samar K. Mulder, Nicola Adebamowo, Sally N. Chimusa, Emile R. Muzny, Donna Metcalf, Ginger Gibbs, Richard A. Matovu, Enock Bucheton, Bruno Hertz-Fowler, Christiane Koffi, Mathurin Macleod, Annette Mumba-Ngoyi, Dieudonne Noyes, Harry Nyangiri, Oscar A. Simo, Gustave Simuunza, Martin Rotimi, Charles Ramsay, Michele Choudhury, Ananyo Choudhury, Ananyo Aron, Shaun Botigue, Laura Sengupta, Dhriti Botha, Gerrit Bensellak, Taoufik Wells, Gordon Kumuthini, Judit Shriner, Daniel Fakim, Yasmina J. Ghoorah, Anisah W. Dareng, Eileen Odia, Trust Falola, Oluwadamilare Adebiyi, Ezekiel Hazelhurst, Scott Mazandu, Gaston Nyangiri, Oscar A. Mbiyavanga, Mamana Benkahla, Alia Kassim, Samar K. Mulder, Nicola Adebamowo, Sally N. Chimusa, Emile R. Rotimi, Charles Ramsay, Michele Adeyemo, Adebowale A. Lombard, Zane Hanchard, Neil A. Adebamowo, Clement Agongo, Godfred Boua, Romuald P. Oduro, Abraham Sorgho, Hermann Landoure, Guida Cisse, Lassana Diarra, Salimata Samassekou, Oumar Anabwani, Gabriel Matshaba, Mogomotsi Joloba, Moses Kekitiinwa, Adeodata Mardon, Graeme Mpoloka, Sununguko W. Kyobe, Samuel Mlotshwa, Busisiwe Mwesigwa, Savannah Retshabile, Gaone Williams, Lesedi Wonkam, Ambroise Moussa, Ahmed Adu, Dwomoa Ojo, Akinlolu Burke, David Salako, Babatunde O. Matovu, Enock Bucheton, Bruno Hertz-Fowler, Christiane Koffi, Mathurin Macleod, Annette Mumba-Ngoyi, Dieudonne Noyes, Harry Nyangiri, Oscar A. Simo, Gustave Simuunza, Martin Awadalla, Philip Bruat, Vanessa Gbeha, Elias Adeyemo, Adebowale A. Lombard, Zane Hanchard, Neil A. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa School of Electrical and Information Engineering University of the Witwatersrand Johannesburg South Africa Division of Human Genetics National Health Laboratory Service and School of Pathology Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa Navrongo Health Research Centre Navrongo Ghana Clinical Research Unit of Nanoro Institut de Recherche en Sciences de la Sante Bobo-Dioulasso Burkina Faso Center for Research in Agricultural Genomics (CRAG) Plant and Animal Genomics Program CSIC-IRTA-UAB-UB Barcelona Spain Computational Biology Division and H3ABioNet Department of Integrative Biomedical Sciences IDM University of Cape Town Cape Town South Africa System and Data Engineering Team Abdelmalek Essaadi University ENSA Tangier Morocco Centre for Proteomic and Genomic Research (CPGR) Cape Town South Africa South African National Bioinformatics Institute University of the Western Cape Bellville South Africa Africa Health Research Institute Durban South Africa Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA Department of Agriculture and Food Science Faculty of Agriculture University of Mauritius Reduit Mauritius Department of Digital Technologies Faculty of Information Communication & Digital Technologies University of Mauritius Reduit Mauritius Department of Public Health and Primary Care University of Cambridge Cambridge UK Institute of Human Virology Nigeria Abuja Nigeria Department of Epidemiology and Public Health University of Maryland School of Medicine University of Maryland Baltimore Baltimore MD USA University of Maryland Greenebaum Comprehensive Cancer Center University of Maryland School of Medicine University of Maryland Baltimore Baltimore MD USA Institute of Human Virology and Greeneba

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A global overview of marine heatwaves in a changing climate (vol 5, 701, 2024)

COMMUNICATIONS EARTH & ENVIRONMENT

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COMMUNICATIONS EARTH & ENVIRONMENT 2024年第1期5卷 701页

作者： Capotondi, Antonietta Rodrigues, Regina R. Sen Gupta, Alex Benthuysen, Jessica A. Deser, Clara Froelicher, Thomas L. Lovenduski, Nicole S. Amaya, Dillon J. Le Grix, Natacha Xu, Tongtong Hermes, Juliet Holbrook, Neil J. Martinez-Villalobos, Cristian Masina, Simona Roxy, Mathew Koll Schaeffer, Amandine Schlegel, Robert W. Smith, Kathryn E. Wang, Chunzai University of Colorado Boulder Cooperative Institute for Research in Environmental Sciences Boulder USA (GRID:grid.266190.a) (ISNI:***) NOAA/Physical Sciences Laboratory Boulder USA (GRID:grid.511342.0) Federal University of Santa Catarina Florianópolis Brazil (GRID:grid.411237.2) (ISNI:0000 0001 2188 7235) University of New South Wales Climate Change Research Centre and Centre for Marine Science and Innovation Sydney Australia (GRID:grid.1005.4) (ISNI:0000 0004 4902 0432) University of New South Wales Australian Research Council Centre of Excellence for Climate Extremes Sydney Australia (GRID:grid.1005.4) (ISNI:0000 0004 4902 0432) Australian Institute of Marine Science Crawley Australia (GRID:grid.1046.3) (ISNI:0000 0001 0328 1619) National Center for Atmospheric Research Climate and Global Dynamics Laboratory Boulder USA (GRID:grid.57828.30) (ISNI:0000 0004 0637 9680) University of Bern Climate and Environmental Physics Physics Institute Bern Switzerland (GRID:grid.5734.5) (ISNI:0000 0001 0726 5157) University of Bern Oeschger Centre for Climate Change Research Bern Switzerland (GRID:grid.5734.5) (ISNI:0000 0001 0726 5157) University of Colorado Boulder Department of Atmospheric and Oceanic Sciences and Institute of Arctic and Alpine Research Boulder USA (GRID:grid.266190.a) (ISNI:***) NOAA/Physical Sciences Laboratory Boulder USA (GRID:grid.511342.0) South African Environmental Observation Network Cape Town South Africa (GRID:grid.507758.8) (ISNI:0000 0004 0499 441X) University of Tasmania Institute for Marine and Antarctic Studies Hobart Australia (GRID:grid.1009.8) (ISNI:0000 0004 1936 826X) University of Tasmania ARC Centre of Excellence for Climate Extremes Hobart Australia (GRID:grid.1009.8) (ISNI:0000 0004 1936 826X) Universidad Adolfo Ibáñez Faculty of Engineering and Science Santiago Chile (GRID:grid.440617.0) (ISNI:0000 0001 2162 5606) ANID Technology Center No. DO210001 Data Observatory Foundation Santiago Chile (GRID:grid.440617.0) CMCC Foundation—Euro-M

Marine heatwaves have profoundly impacted marine ecosystems over large areas of the world oceans, calling for improved understanding of their dynamics and predictability. Here, we critically review the recent substantial advances in this active area of research, including the exploration of the three-dimensional structure and evolution of these extremes, their drivers, their connection with other extremes in the ocean and over land, future projections, and assessment of their predictability and current prediction skill. To make progress on predicting and projecting marine heatwaves and their impacts, a more complete mechanistic understanding of these extremes over the full ocean depth and at the relevant spatial and temporal scales is needed, together with models that can realistically capture the leading mechanisms at those scales. Sustained observing systems, as well as measuring platforms that can be rapidly deployed, are essential to achieve comprehensive event characterizations while also chronicling the evolving nature of these extremes and their impacts in our changing *** understanding of marine heatwave predictability and impacts requires analysis of these extremes at full ocean depth, using models and observations capturing their key drivers at the relevant scales, according to a broad literature review.

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

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Scientific data 2017年第1期4卷 170179页

作者： Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmu Department of Molecular Biology Massachusetts General Hospital Boston Massachusetts USA. Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts USA. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor Michigan USA. Wellcome Trust Centre for Human Genetics Nuffield Department of Medicine University of Oxford Oxford UK. Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology Cambridge Massachusetts USA. Department of Statistics University of Oxford Oxford UK. Genetics of Complex Traits University of Exeter Medical School University of Exeter Exeter UK. MRC Epidemiology Unit Institute of Metabolic Science University of Cambridge Cambridge UK. Department of Twin Research and Genetic Epidemiology King's College London London UK. Oxford Centre for Diabetes Endocrinology and Metabolism Radcliffe Department of Medicine University of Oxford Oxford UK. Department of Human Genetics Wellcome Trust Sanger Institute Hinxton Cambridgeshire UK. School of Computer Science McGill University Montreal Quebec Canada. McGill University and Génome Québec Innovation Centre Montreal Quebec Canada. Human Genetics Center The University of Texas Graduate School of Biomedical Sciences at Houston The University of Texas Health Science Center at Houston Houston Texas USA. Department of Biostatistics Boston University School of Public Health Boston Massachusetts USA. National Heart Lung and Blood Institute's Framingham Heart Study Framingham Massachusetts USA. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA. Department of Biostatistics Harvard School of Public Health Boston Massachusetts USA. Chronic Disease Epidemiology Swiss Tropical and Public Health Institute University of Basel Basel Switzerland. Institute of Genetic Epidemiology Helmholtz Zentrum München German R

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

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Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

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The Lancet 2020年第10258期396卷 1204-1222页

作者： Abbafati, Cristiana Abbas, Kaja M. Abbasi, Mohammad Abbasifard, Mitra Abbasi-Kangevari, Mohsen Abbastabar, Hedayat Abd-Allah, Foad Abdelalim, Ahmed Abdollahi, Mohammad Abdollahpour, Ibrahim Abedi, Aidin Abedi, Parisa Abegaz, Kedir Hussein Abolhassani, Hassan Abosetugn, Akine Eshete Aboyans, Victor Abrams, Elissa M. Abreu, Lucas Guimarães Abrigo, Michael R.M. Abu Haimed, Abdulaziz Khalid Abualhasan, Ahmed Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Abushouk, Abdelrahman I. Acebedo, Alyssa Ackerman, Ilana N. Adabi, Maryam Adair, Tim Adamu, Abdu A. Adebayo, Oladimeji M. Adedeji, Isaac Akinkunmi Adekanmbi, Victor Adelson, Jaimie D. Adeoye, Abiodun Moshood Adetokunboh, Olatunji O. Adham, Davoud Advani, Shailesh M. Afarideh, Mohsen Afshari, Mahdi Afshin, Ashkan Agardh, Emilie E. Agarwal, Gina Agasthi, Pradyumna Agesa, Kareha M. Aghaali, Mohammad Aghamir, Seyed Mohammad Kazem Agrawal, Anurag Ahmad, Tauseef Ahmadi, Alireza Ahmadi, Keivan Ahmadi, Mehdi Ahmadieh, Hamid Ahmadpour, Ehsan Ahmed, Muktar Beshir Aji, Budi Akalu, Temesgen Yihunie Akinyemi, Rufus Olusola Akinyemiju, Tomi Akombi, Blessing Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Khurshid Alam, Noore Alam, Samiah Alam, Tahiya Alanezi, Fahad Mashhour Alanzi, Turki M. Albertson, Samuel B. Alcalde-Rabanal, Jacqueline Elizabeth Alema, Niguse Meles Alemu, Biresaw Wassihun Alemu, Yihun Mulugeta Alhabib, Khalid F. Alhassan, Robert Kaba Ali, Muhammad Ali, Saqib Alicandro, Gianfranco Alijanzadeh, Mehran Alinia, Cyrus Alipour, Vahid Alizade, Hesam Aljunid, Syed Mohamed Alla, François Allebeck, Peter Almadi, Majid Abdulrahman Hamad Almasi, Ali Almasi-Hashiani, Amir Almasri, Nihad A. Al-Mekhlafi, Hesham M. Almulhim, Abdulaziz M. Alonso, Jordi Al-Raddadi, Rajaa M. Altirkawi, Khalid A. Alumran, Arwa Khalid Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Amare, Bekalu Amini, Saeed Amini-Rarani, Mostafa Aminorroaya, Arya Amiri, Fatemeh Amit, Arianna Maever L. Amugsi, Dickson A. Amul, Gianna Gayle Herrera Anbesu, Etsay Woldu Ancuceanu, Robert Anderl Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Infectious Disease Epidemiology London School of Hygiene and Tropical Medicine London United Kingdom Social Determinants of Health Research Center Tehran Iran Department of Neurology Cairo University Cairo Egypt School of Pharmacy Tehran Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran Iran Neuroscience Research Center Isfahan University of Medical Sciences Isfahan Iran Biostatistics Department Near East University Nicosia Cyprus Biostatistics and Health Informatics Madda Walabu University Bale Robe Ethiopia Research Center for Immunodeficiencies Tehran Iran Karolinska University Hospital Huddinge Sweden Department of Cardiology Dupuytren University Hospital Limoges France University of Limoges Limoges France Department of Pediatric Dentistry Federal University of Minas Gerais Belo Horizonte Brazil Department of Research Philippine Institute for Development Studies Quezon City Philippines Department of Healthcare Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Harvard Medical School Boston MA United States Department of Medicine Ain Shams University Cairo Egypt Hamadan University of Medical Sciences Hamadan Iran School of Medicine Cardiff University Cardiff United Kingdom School of Laboratory Medicine and Science University College Hospital Ibadan Ibadan Nigeria Institute of Cardiovascular Diseases University of Ibadan Ibadan Nigeria Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Cape Town South Africa Department of Global Health Stellenbosch University Cape Town South Africa School of Health Ardabil University of Medical Science Ardabil Iran Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC DC United States Department of Health Metrics Sciences School of Medicine Seattle WA

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw value

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Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

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Nature genetics 2019年第7期51卷 1192-1193页

作者： Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany. Centre for Brain Research Indian Institute of Science Bangalore India. INSERM U1219 Bordeaux Population Health Research Center University of Bordeaux Bordeaux France. Stroke Research Group Division of Clinical Neurosciences University of Cambridge Cambridge UK. Department of Neurology Institute for Neurodegenerative Disease Bordeaux University Hospital Bordeaux France. Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Osaka Japan. Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan. Department of Neurology Massachusetts General Hospital (MGH) Harvard Medical School Boston MA USA. Laboratory of Experimental Cardiology Department of Cardiology Division of Heart and Lungs University Medical Center Utrecht University of Utrecht Utrecht the Netherlands. deCODE genetics/AMGEN Inc. Reykjavik Iceland. Center for Genomic Medicine MGH Boston MA USA. J. Philip Kistler Stroke Research Center Department of Neurology MGH Boston MA USA. Program in Medical and Population Genetics Broad Institute Cambridge MA USA. Population Health Research Institute McMaster University Hamilton Ontario Canada. Department of Epidemiology Erasmus University Medical Center Rotterdam the Netherlands. Department of Radiology and Nuclear Medicine Erasmus University Medical Center Rotterdam the Netherlands. Department of Medicine and Clinical Science Graduate School of Medical Sciences Kyushu University Fukuoka Japan. Department of Clinical Sciences Lund University Malmö Sweden. INSERM Institut Pasteur de Lille LabEx DISTALZ-UMR1167 Risk Factors and Molecular Determinants of Aging-Related Diseases Université Lille Lille France. Centre Hospitalier Université Lille Epidemiology and Public Health D

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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Correction: ColistinDose, a Mobile App for Determining Intravenous Dosage Regimens of Colistimethate in Critically Ill Adult Patients: Clinician-centered Design and Development Study

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JMIR mHealth and uHealth 2020年第12期8卷 e26593页

作者： Xueliang Hua Chen Li Jason M Pogue Varun S Sharma Ilias Karaiskos Keith S Kaye Brian T Tsuji Phillip J Bergen Yan Zhu Jiangning Song Jian Li Independent Researcher Santa Clara CA United States. Department of Biochemistry and Molecular Biology Monash University Melbourne Australia. Infection and Immunity Program Biomedicine Discovery Institute Monash University Melbourne Australia. Institute of Molecular Systems Biology Department of Biology ETH Zurich Zurich Switzerland. Department of Clinical Pharmacy University of Michigan College of Pharmacy Ann Arbor MI United States. 1st Internal Medicine and Infectious Diseases Department Hygeia Hospital Marousi Greece. Department of Internal Medicine University of Michigan Medical School Ann Arbor MI United States. Laboratory for Antimicrobial Dynamics NYS Center of Excellence in Bioinformatics & Life Sciences Buffalo NY United States. School of Pharmacy and Pharmaceutical Sciences University at Buffalo Buffalo NY United States. Department of Microbiology Monash University Melbourne Australia. Monash Centre for Data Science Faculty of Information Technology Monash University Melbourne Australia.

[This corrects the article DOI: 10.2196/20525.].

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Publisher Correction: A global overview of marine heatwaves in a changing climate

Communications Earth & Environment

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Communications Earth & Environment 2024年第1期5卷 1页

作者： Antonietta Capotondi Tongtong Xu Dillon J. Amaya Regina R. Rodrigues Alex Sen Gupta Jessica A. Benthuysen Clara Deser Thomas L. Frölicher Natacha Le Grix Nicole S. Lovenduski Juliet Hermes Neil J. Holbrook Cristian Martinez-Villalobos Simona Masina Mathew Koll Roxy Amandine Schaeffer Robert W. Schlegel Kathryn E. Smith Chunzai Wang Cooperative Institute for Research in Environmental Sciences University of Colorado Boulder Boulder CO USA NOAA/Physical Sciences Laboratory Boulder CO USA Federal University of Santa Catarina Florianópolis Brazil Climate ChangeResearch Centre and CentreforMarine Science and Innovation University of New South Wales Sydney NSW Australia Australian Research Council Centre of Excellence for Climate Extremes University of New South Wales Sydney NSW Australia Australian Institute of Marine Science Crawley WA Australia Climate and Global Dynamics Laboratory National Center for Atmospheric Research Boulder CO USA Climate and Environmental Physics Physics Institute University of Bern Bern Switzerland Oeschger Centre for Climate Change Research University of Bern Bern Switzerland Department of Atmospheric and Oceanic Sciences and Institute of Arctic and Alpine Research University of Colorado Boulder Boulder CO USA South African Environmental Observation Network Cape Town South Africa Institute for Marine and Antarctic Studies University of Tasmania Hobart TAS Australia ARC Centre of Excellence for Climate Extremes University of Tasmania Hobart TAS Australia Faculty of Engineering and Science Universidad Adolfo Ibáñez Santiago Chile Data Observatory Foundation ANID Technology Center No. DO210001 Santiago Chile CMCC Foundation—Euro-Mediterranean Center on Climate Change Bologna Italy Centre for Climate Change Research Indian Institute of Tropical Meteorology Ministry of Earth Sciences Pune India School of Mathematics and Statistics UNSW Sydney NSW Australia Center for Marine Science and Innovation UNSW Sydney NSW Australia Laboratoire d’Océanographie de Villefranche Sorbonne University CNRS Villefranche-sur-mer France Marine Biological Association of the United Kingdom Plymouth UK State Key Laboratory of Tropical Oceanography South China Sea Institute of Oceanology Chinese Academy of Sciences Guangzhou China Global Ocean and Climate Research Center

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Kilonova Luminosity Function Constraints based on Zwicky Transient Facility Searches for 13 Neutron Star Mergers

arXiv

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arXiv 2020年

作者： Kasliwal, Mansi M. Anand, Shreya Ahumada, Tomás Stein, Robert Carracedo, Ana Sagués Andreoni, Igor Coughlin, Michael W. Singer, Leo P. Kool, Erik C. De, Kishalay Kumar, Harsh AlMualla, Mouza Yao, Yuhan Bulla, Mattia Dobie, Dougal Reusch, Simeon Perley, Daniel A. Cenko, S. Bradley Bhalerao, Varun Kaplan, David L. Sollerman, Jesper Goobar, Ariel Copperwheat, Christopher M. Bellm, Eric C. Anupama, G.C. Corsi, Alessandra Nissanke, Samaya Agudo, Iván Bagdasaryan, Ashot Barway, Sudhanshu Belicki, Justin Bloom, Joshua S. Bolin, Bryce Buckley, David A.H. Burdge, Kevin B. Burruss, Rick Caballero-García, Maria D. Cannella, Chris Castro-Tirado, Alberto J. Cook, David O. Cooke, Jeff Cunningham, Virginia Dahiwale, Aishwarya Deshmukh, Kunal Dichiara, Simone Duev, Dmitry A. Dutta, Anirban Feeney, Michael Franckowiak, Anna Frederick, Sara Fremling, Christoffer Gal-Yam, Avishay Gatkine, Pradip Ghosh, Shaon Goldstein, Daniel A. Golkhou, V. Zach Graham, Matthew J. Graham, Melissa L. Hankins, Matthew J. Helou, George Hu, Youdong Ip, Wing-Huen Jaodand, Amruta Karambelkar, Viraj Kong, Albert K.H. Kowalski, Marek Khandagale, Maitreya Kulkarni, S.R. Kumar, Brajesh Laher, Russ R. Li, K.L. Mahabal, Ashish Masci, Frank J. Miller, Adam A. Mogotsi, Moses Mohite, Siddharth Mooley, Kunal Mroz, Przemek Newman, Jeffrey A. Ngeow, Chow-Choong Oates, Samantha R. Patil, Atharva Sunil Pandey, Shashi B. Pavana, M. Pian, Elena Riddle, Reed Sánchez-Ramírez, Rubén Sharma, Yashvi Singh, Avinash Smith, Roger Soumagnac, Maayane T. Taggart, Kirsty Tan, Hanjie Tzanidakis, Anastasios Troja, Eleonora Valeev, Azamat F. Walters, Richard Waratkar, Gaurav Webb, Sara Yu, Po-Chieh Zhang, Bin-Bin Zhou, Rongpu Zolkower, Jeffry Division of Physics Mathematics and Astronomy California Institute of Technology PasadenaCA91125 United States Department of Astronomy University of Maryland College ParkMD20742 United States Deutsches Elektronen Synchrotron DESY Platanenallee 6 Zeuthen15738 Germany Institut für Physik Humboldt-Universität zu Berlin BerlinD-12489 Germany Oskar Klein Centre Department of Physics Stockholm University AlbaNova StockholmSE-106 91 Sweden School of Physics and Astronomy University of Minnesota MinneapolisMN55455 United States Astrophysics Science Division NASA Goddard Space Flight Center MC 661 GreenbeltMD20771 United States Joint Space-Science Institute University of Maryland College ParkMD20742 United States Oskar Klein Centre Department of Astronomy Stockholm University AlbaNova StockholmSE-106 91 Sweden Indian Institute of Technology Bombay Powai Mumbai400076 India American University of Sharjah Physics Department PO Box 26666 Sharjah United Arab Emirates Nordita KTH Royal Institute of Technology Stockholm University Roslagstullsbacken 23 StockholmSE-106 91 Sweden Sydney Institute for Astronomy School of Physics University of Sydney NSW2006 Australia CSIRO Astronomy and Space Science P.O. Box 76 EppingNSW1710 Australia Swinburne University of Technology HawthornVIC3122 Australia Astrophysics Research Institute Liverpool John Moores University IC2 Liverpool Science Park 146 Brownlow Hill LiverpoolL3 5RF United Kingdom Center for Gravitation Cosmology and Astrophysics Department of Physics University of Wisconsin–Milwaukee P.O. Box 413 MilwaukeeWI53201 United States DIRAC Institute Department of Astronomy University of Washington 3910 15th Avenue NE SeattleWA98195 United States Indian Institute of Astrophysics II Block Koramangala Bengaluru560034 India Department of Physics and Astronomy Texas Tech University Box 1051 LubbockTX79409-1051 United States Center of Excellence in Gravitation and Astroparticle Phys

We present a systematic search for optical counterparts to 13 gravitational wave (GW) triggers involving at least one neutron star during LIGO/Virgo’s third observing run (O3). We searched binary neutron star (BNS) and neutron star black hole (NSBH) merger localizations with the Zwicky Transient Facility (ZTF) and undertook follow-up with the Global Relay of Observatories Watching Transients Happen (GROWTH) collaboration. The GW triggers had a median localization area of 4480 deg2, median distance of 267 Mpc and false alarm rates ranging from 1.5 yr−1 to 10−25 yr−1. The ZTF coverage had a median enclosed probability of 39%, median depth of 20.8 mag, and median time lag between merger and the start of observations of 1.5 hr. The O3 follow-up by the GROWTH team comprised 340 UltraViolet/Optical/InfraRed (UVOIR) photometric points, 64 OIR spectra, and 3 radio images. We find no promising kilonova (radioactivity-powered counterpart) and we show how to convert the upper limits to constrain the underlying kilonova luminosity function. Initially, we assume that all GW triggers are bonafide astrophysical events regardless of false alarm rate and that kilonovae accompanying BNS and NSBH mergers are drawn from a common population, and later, we relax these assumptions. Assuming that all kilonovae are at least as luminous as the discovery magnitude of GW170817 (−16.1 mag), we calculate that our joint probability of detecting zero kilonovae is only 4.2%. If we assume that all kilonovae are brighter than −16.6 mag (extrapolated peak magnitude of GW170817) and fade at a rate of 1 mag day−1 (similar to GW170817), the joint probability of zero detections is 7%. If we separate the NSBH and BNS populations, the joint probability of zero detections, assuming all kilonovae are brighter than −16.6 mag, is 9.7% for NSBH and 7.9% for BNS mergers. Moreover, no more than −1), at the 90% confidence level. If we further take into account the online terrestrial probability for each GW trigger,

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