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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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Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women

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Gynecologic oncology 2019年第2期153卷 343-355页

作者： Kate Lawrenson Fengju Song Dennis J Hazelett Siddhartha P Kar Jonathan Tyrer Catherine M Phelan Rosario I Corona Norma I Rodríguez-Malavé Ji-Hei Seo Emily Adler Simon G Coetzee Felipe Segato Marcos A S Fonseca Christopher I Amos Michael E Carney Georgia Chenevix-Trench Jiyeob Choi Jennifer A Doherty Weihua Jia Gang J Jin Byoung-Gie Kim Nhu D Le Juyeon Lee Lian Li Boon K Lim Noor A Adenan Mika Mizuno Boyoung Park Celeste L Pearce Kang Shan Yongyong Shi Xiao-Ou Shu Weiva Sieh Pamela J Thompson Lynne R Wilkens Qingyi Wei Yin L Woo Li Yan Beth Y Karlan Matthew L Freedman Houtan Noushmehr Ellen L Goode Andrew Berchuck Thomas A Sellers Soo-Hwang Teo Wei Zheng Keitaro Matsuo Sue Park Kexin Chen Paul D P Pharoah Simon A Gayther Marc T Goodman Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute Cedars-Sinai Medical Center 8700 Beverly Boulevard Suite 290W Los Angeles CA USA Center for Bioinformatics and Functional Genomics Cedars Sinai Genomics Core Cedars-Sinai Medical Center Los Angeles CA USA. Electronic address: kate.lawrenson@***. National Clinical Research Center for Cancer Tianjin Medical University Cancer Institute and Hospital Tianjin China Department of Epidemiology and Biostatistics Key Laboratory of Cancer Prevention and Therapy Tianjin China. Center for Bioinformatics and Functional Genomics Cedars Sinai Genomics Core Cedars-Sinai Medical Center Los Angeles CA USA. Department of Oncology Centre for Cancer Genetic Epidemiology University of Cambridge Strangeways Research Laboratory Cambridge UK. Department of Gynecologic Oncology Moffitt Cancer Center Tampa FL USA Department of Cancer Epidemiology Moffitt Cancer Center Tampa FL USA. Center for Bioinformatics and Functional Genomics Cedars Sinai Genomics Core Cedars-Sinai Medical Center Los Angeles CA USA. Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA. Department of Preventive Medicine University of Southern California Keck School of Medicine 1450 Biggy Street Los Angeles CA USA. Department of Genetics Ribeirão Preto Medical School University of São Paulo 14049-900 Brazil. Institute for Clinical and Translational Research Department of Medicine Baylor School of Medicine HoustonTX USA. Department of Obstetrics and Gynecology John A. Burns School of Medicine University of Hawaii Honolulu HI USA. Genetics and Computational Biology Department QIMR Berghofer Medical Research Institute 300 Herston Road Herston QLD 4006 Australia. Department of Preventive Medicine Seoul National University College of Medicine Seoul Republic of Korea Cancer Research Institute Seoul National University Seoul Republic of Korea Department of Biomedical Science Graduate School Seoul National Un

OBJECTIVE:Genome-wide association studies (GWASs) for epithelial ovarian cancer (EOC) have focused largely on populations of European ancestry. We aimed to identify common germline variants associated with EOC risk in Asian women. METHODS:Genotyping was performed as part of the OncoArray project. Samples with >60% Asian ancestry were included in the analysis. Genotyping was performed on 533,631 SNPs in 3238 Asian subjects diagnosed with invasive or borderline EOC and 4083 unaffected controls. After imputation, genotypes were available for 11,595,112 SNPs to identify associations. RESULTS:At chromosome 6p25.2, SNP rs7748275 was associated with risk of serous EOC (odds ratio [OR] = 1.34, P = 8.7 × 10) and high-grade serous EOC (HGSOC) (OR = 1.34, P = 4.3 × 10). SNP rs6902488 at 6p25.2 (r = 0.97 with rs7748275) lies in an active enhancer and is predicted to impact binding of STAT3, P300 and ELF1. We identified additional risk loci with low Bayesian false discovery probability (BFDP) scores, indicating they are likely to be true risk associations (BFDP <10%). At chromosome 20q11.22, rs74272064 was associated with HGSOC risk (OR = 1.27, P = 9.0 × 10). Overall EOC risk was associated with rs10260419 at chromosome 7p21.3 (OR = 1.33, P = 1.2 × 10) and rs74917072 at chromosome 2q37.3 (OR = 1.25, P = 4.7 × 10). At 2q37.3, expression quantitative trait locus analysis in 404 HGSOC tissues identified ESPNL as a putative candidate susceptibility gene (P = 1.2 × 10). CONCLUSION:While some risk loci were shared between East Asian and European populations, others were population-specific, indicating that the landscape of EOC risk in Asian women has both shared and unique features compared to women of European ancestry.

关键词： Asian ancestry Enhancer Epithelial ovarian cancer Gene regulation Genome-wide association study eQTL

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Estimates, trends, and drivers of the global burden of type 2 diabetes attributable to PM_2·5 air pollution, 1990–2019: an analysis of data from the Global Burden of Disease Study 2019

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The Lancet Planetary Health 2022年第7期6卷 e586-e600页

作者： Burkart, Katrin Causey, Kate Cohen, Aaron J Wozniak, Sarah S Salvi, Devashri Digvijay Abbafati, Cristiana Adekanmbi, Victor Adsuar, Jose C Ahmadi, Keivan Alahdab, Fares Al-Aly, Ziyad Alipour, Vahid Alvis-Guzman, Nelson Amegah, Adeladza Kofi Andrei, Catalina Liliana Andrei, Tudorel Ansari, Fereshteh Arabloo, Jalal Aremu, Olatunde Aripov, Timur Babaee, Ebrahim Banach, MacIej Barnett, Anthony Bärnighausen, Till Winfried Bedi, Neeraj Behzadifar, Masoud Béjot, Yannick Bennett, Derrick A Bensenor, Isabela M Bernstein, Robert S Bhattacharyya, Krittika Bijani, Ali Biondi, Antonio Bohlouli, Somayeh Breitner, Susanne Brenner, Hermann Butt, Zahid A Cámera, Luis Alberto Cantu-Brito, Carlos Carvalho, Felix Cerin, Ester Chattu, Vijay Kumar Chauhan, Bal Govind Choi, Jee-Young Jasmine Chu, Dinh-Toi Dai, Xiaochen Dandona, Lalit Dandona, Rakhi Daryani, Ahmad Davletov, Kairat De Courten, Barbora Demeke, Feleke Mekonnen Denova-Gutiérrez, Edgar Dharmaratne, Samath Dhamminda Dhimal, Meghnath Diaz, Daniel Djalalinia, Shirin Duncan, Bruce B El Sayed Zaki, Maysaa Eskandarieh, Sharareh Fareed, Mohammad Farzadfar, Farshad Fattahi, Nazir Fazlzadeh, Mehdi Fernandes, Eduarda Filip, Irina Fischer, Florian Foigt, Nataliya A Freitas, Marisa Ghashghaee, Ahmad Gill, Paramjit Singh Ginawi, Ibrahim Abdelmageed Gopalani, Sameer Vali Guo, Yuming Gupta, Rajat Das Habtewold, Tesfa Dejenie Hamadeh, Randah R Hamidi, Samer Hankey, Graeme J Hasanpoor, Edris Hassen, Hamid Yimam Hay, Simon I Heibati, Behzad Hole, Michael K Hossain, Naznin Househ, Mowafa Irvani, Seyed Sina Naghibi Jaafari, Jalil Jakovljevic, Mihajlo Jha, Ravi Prakash Jonas, Jost B Jozwiak, Jacek Jerzy Kasaeian, Amir Kaydi, Neda Khader, Yousef Saleh Khafaie, Morteza Abdullatif Khan, Ejaz Ahmad Khan, Junaid Khan, Md Nuruzzaman Khatab, Khaled Khater, Amir M Kim, Yun Jin Kimokoti, Ruth W Kisa, Adnan Kivimäki, Mika Knibbs, Luke D Kosen, Soewarta Koul, Parvaiz A Koyanagi, Ai Defo, Barthelemy Kuate Kugbey, Nuworza Lauriola, Paolo Lee, Paul H Leili, Mostafa Lewycka, Sonia Li, Shanshan Lim, Lee-Ling Li Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Division of Plastic and Reconstructive Surgery University of Washington Seattle WA United States Research Insights and Innovation Seattle WA United States Health Effects Institute Boston MA United States School of Public Health Boston University Boston MA United States Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Population Medicine Cardiff University Cardiff United Kingdom Sport Science Department University of Extremadura Badajoz Spain School of Public Health Imperial College London London United Kingdom Department of Primary Care and Public Health Imperial College London London United Kingdom Mayo Evidence-based Practice Center Mayo Clinic Foundation for Medical Education and Research Rochester MN United States John T. Milliken Department of Internal Medicine Washington University in St. Louis St. Louis MO United States Clinical Epidemiology Center US Department of Veterans Affairs (VA) St Louis MO United States Health Management and Economics Research Center Iran University of Medical Sciences Tehran Iran Department of Health Economics Iran University of Medical Sciences Tehran Iran Preventive Medicine and Public Health Research Center Iran University of Medical Sciences Tehran Iran Pars Advanced and Minimally Invasive Medical Manners Research Center Iran University of Medical Sciences Tehran Iran Department of Community and Family Medicine Iran University of Medical Sciences Tehran Iran Research Group in Hospital Management and Health Policies Universidad de la Costa (University of the Coast) Barranquilla Colombia Research Group in Health Economics University of Cartagena Cartagena Colombia Department of Biomedical Science University of Cape Coast Cape Coast Ghana Cardiology Department Ca

Background: Experimental and epidemiological studies indicate an association between exposure to particulate matter (PM) air pollution and increased risk of type 2 diabetes. In view of the high and increasing prevalence of diabetes, we aimed to quantify the burden of type 2 diabetes attributable to PM_2·5 originating from ambient and household air pollution. Methods: We systematically compiled all relevant cohort and case-control studies assessing the effect of exposure to household and ambient fine particulate matter (PM_2·5) air pollution on type 2 diabetes incidence and mortality. We derived an exposure–response curve from the extracted relative risk estimates using the MR-BRT (meta-regression—Bayesian, regularised, trimmed) tool. The estimated curve was linked to ambient and household PM_2·5 exposures from the Global Burden of Diseases, Injuries, and Risk Factors Study 2019, and estimates of the attributable burden (population attributable fractions and rates per 100 000 population of deaths and disability-adjusted life-years) for 204 countries from 1990 to 2019 were calculated. We also assessed the role of changes in exposure, population size, age, and type 2 diabetes incidence in the observed trend in PM_2·5-attributable type 2 diabetes burden. All estimates are presented with 95% uncertainty intervals. Findings: In 2019, approximately a fifth of the global burden of type 2 diabetes was attributable to PM_2·5 exposure, with an estimated 3·78 (95% uncertainty interval 2·68–4·83) deaths per 100 000 population and 167 (117–223) disability-adjusted life-years (DALYs) per 100 000 population. Approximately 13·4% (9·49–17·5) of deaths and 13·6% (9·73–17·9) of DALYs due to type 2 diabetes were contributed by ambient PM2·5, and 6·50% (4·22–9·53) of deaths and 5·92% (3·81–8·64) of DALYs by household air pollution. High burdens, in terms of numbers as well as rates, were estimated in Asia, sub-Saharan Africa, and South Am

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Publisher Correction: The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions

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Nature medicine 2019年第3期25卷 530页

作者： Hamid Bolouri Jason E Farrar Timothy Triche Rhonda E Ries Emilia L Lim Todd A Alonzo Yussanne Ma Richard Moore Andrew J Mungall Marco A Marra Jinghui Zhang Xiaotu Ma Yu Liu Yanling Liu Jaime M Guidry Auvil Tanja M Davidsen Patee Gesuwan Leandro C Hermida Bodour Salhia Stephen Capone Giridharan Ramsingh Christian Michel Zwaan Sanne Noort Stephen R Piccolo E Anders Kolb Alan S Gamis Malcolm A Smith Daniela S Gerhard Soheil Meshinchi Division of Human Biology Fred Hutchinson Cancer Research Center Seattle Washington USA. hbolouri@***. Winthrop P. Rockefeller Cancer Institute University of Arkansas for Medical Sciences and Arkansas Children's Research Institute Little Rock Arkansas USA. Jane Anne Nohl Division of Hematology University of Southern California Norris Comprehensive Cancer Center Los Angeles California USA. Van Andel Research Institute Grand Rapids Michigan USA. Clinical Research Division Fred Hutchinson Cancer Research Center Seattle Washington USA. Canada's Michael Smith Genome Sciences Centre British Columbia Cancer Agency Vancouver British Columbia Canada. Keck School of Medicine University of Southern California Los Angeles California USA. Children's Oncology Group Monrovia California USA. Division of Computational Biology St. Jude Children's Research Hospital Memphis Tennessee USA. Office of Cancer Genomics National Cancer Institute Bethesda Maryland USA. Department of Translational Genomics Keck School of Medicine University of Southern California Los Angeles California USA. Department of Pediatric Oncology Erasmus MC-Sophia Children's Hospital Rotterdam the Netherlands. Department of Biology Brigham Young University Provo Utah USA. Department of Biomedical Informatics University of Utah Salt Lake City Utah USA. Nemours Center for Cancer and Blood Disorders Alfred I. DuPont Hospital for Children Wilmington Delaware USA. Division of Hematology Oncology and Bone Marrow Transplantation Children's Mercy Hospitals and Clinics Kansas City Missouri USA. Cancer Therapy Evaluation Program National Cancer Institute Bethesda Maryland USA. Clinical Research Division Fred Hutchinson Cancer Research Center Seattle Washington USA. smeshinc@***.

In the version of this article originally published, the color key in Fig. 1a was wrong. In the Cytogenetics key, the box over t(8;21) originally was green. It should have been red, matching the color of the sections ...

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Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population

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Nature communications 2023年第1期14卷 3043页

作者： Jianxin Shi Kouya Shiraishi Jiyeon Choi Keitaro Matsuo Tzu-Yu Chen Juncheng Dai Rayjean J Hung Kexin Chen Xiao-Ou Shu Young Tae Kim Maria Teresa Landi Dongxin Lin Wei Zheng Zhihua Yin Baosen Zhou Bao Song Jiucun Wang Wei Jie Seow Lei Song I-Shou Chang Wei Hu Li-Hsin Chien Qiuyin Cai Yun-Chul Hong Hee Nam Kim Yi-Long Wu Maria Pik Wong Brian Douglas Richardson Karen M Funderburk Shilan Li Tongwu Zhang Charles Breeze Zhaoming Wang Batel Blechter Bryan A Bassig Jin Hee Kim Demetrius Albanes Jason Y Y Wong Min-Ho Shin Lap Ping Chung Yang Yang She-Juan An Hong Zheng Yasushi Yatabe Xu-Chao Zhang Young-Chul Kim Neil E Caporaso Jiang Chang James Chung Man Ho Michiaki Kubo Yataro Daigo Minsun Song Yukihide Momozawa Yoichiro Kamatani Masashi Kobayashi Kenichi Okubo Takayuki Honda Dean H Hosgood Hideo Kunitoh Harsh Patel Shun-Ichi Watanabe Yohei Miyagi Haruhiko Nakayama Shingo Matsumoto Hidehito Horinouchi Masahiro Tsuboi Ryuji Hamamoto Koichi Goto Yuichiro Ohe Atsushi Takahashi Akiteru Goto Yoshihiro Minamiya Megumi Hara Yuichiro Nishida Kenji Takeuchi Kenji Wakai Koichi Matsuda Yoshinori Murakami Kimihiro Shimizu Hiroyuki Suzuki Motonobu Saito Yoichi Ohtaki Kazumi Tanaka Tangchun Wu Fusheng Wei Hongji Dai Mitchell J Machiela Jian Su Yeul Hong Kim In-Jae Oh Victor Ho Fun Lee Gee-Chen Chang Ying-Huang Tsai Kuan-Yu Chen Ming-Shyan Huang Wu-Chou Su Yuh-Min Chen Adeline Seow Jae Yong Park Sun-Seog Kweon Kun-Chieh Chen Yu-Tang Gao Biyun Qian Chen Wu Daru Lu Jianjun Liu Ann G Schwartz Richard Houlston Margaret R Spitz Ivan P Gorlov Xifeng Wu Ping Yang Stephen Lam Adonina Tardon Chu Chen Stig E Bojesen Mattias Johansson Angela Risch Heike Bickeböller Bu-Tian Ji H-Erich Wichmann David C Christiani Gadi Rennert Susanne Arnold Paul Brennan James McKay John K Field Sanjay S Shete Loic Le Marchand Geoffrey Liu Angeline Andrew Lambertus A Kiemeney Shan Zienolddiny-Narui Kjell Grankvist Mikael Johansson Angela Cox Fiona Taylor Jian-Min Yuan Philip Lazarus Matthew B Schabath Melinda C Aldrich Hyo-Sung Jeon Shih Sheng Jiang Jae Sook Sung C Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA. jianxin.shi@nih.gov. Division of Genome Biology National Cancer Research Institute Tokyo Japan. Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA. Division of Cancer Epidemiology and Prevention Aichi Cancer Center Research Institute Nagoya Japan. Institute of Population Health Sciences National Health Research Institutes Zhunan Taiwan. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Jiangsu Key Lab of Cancer Biomarkers Prevention and Treatment Collaborative Innovation Center for Cancer Medicine Nanjing Medical University Nanjing China. Prosserman Centre for Population Health Research Lunenfeld-Tanenbaum Research Institute Sinai Health Toronto ON Canada. Department of Epidemiology and Biostatistics National Clinical Research Center for Cancer Key Laboratory of Molecular Cancer Epidemiology of Tianjin Tianjin Medical University Cancer Institute and Hospital Tianjin Medical University Tianjin China. Division of Epidemiology Department of Medicine Vanderbilt University Medical Center and Vanderbilt-Ingram Cancer Center Nashville TN USA. Cancer Research Institute Seoul National University College of Medicine Seoul Republic of Korea. Department of Etiology & Carcinogenesis and State Key Laboratory of Molecular Oncology Cancer Institute and Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China. Department of Epidemiology School of Public Health China Medical University Shenyang China. Department of Clinical Epidemiology and Center of Evidence Based Medicine The First Hospital of China Medical University Shenyang China. Department of Oncology Shandong Cancer Hospital and Institute Shandong Academy of Medical Sciences Jinan China. Ministry of Education Key Laboratory of Contemporary Anthropology School of Life Sciences Fudan University Shanghai China. S

Lung adenocarcinoma is the most common type of lung cancer. Known risk variants explain only a small fraction of lung adenocarcinoma heritability. Here, we conducted a two-stage genome-wide association study of lung adenocarcinoma of East Asian ancestry (21,658 cases and 150,676 controls; 54.5% never-smokers) and identified 12 novel susceptibility variants, bringing the total number to 28 at 25 independent loci. Transcriptome-wide association analyses together with colocalization studies using a Taiwanese lung expression quantitative trait loci dataset (n = 115) identified novel candidate genes, including FADS1 at 11q12 and ELF5 at 11p13. In a multi-ancestry meta-analysis of East Asian and European studies, four loci were identified at 2p11, 4q32, 16q23, and 18q12. At the same time, most of our findings in East Asian populations showed no evidence of association in European populations. In our studies drawn from East Asian populations, a polygenic risk score based on the 25 loci had a stronger association in never-smokers vs. individuals with a history of smoking (P = 0.0058). These findings provide new insights into the etiology of lung adenocarcinoma in individuals from East Asian populations, which could be important in developing translational applications.

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Mapping geographical inequalities in childhood diarrhoeal morbidity and mortality in low-income and middle-income countries, 2000-17: analysis for the Global Burden of Disease Study 2017 (vol 395, pg 1779, 2020)

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LANCET 2020年第10239期395卷 1762-1762页

作者： Reiner, R. C., Jr. Hay, S., I Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Global Health School of Medicine University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States College of Health and Medical Sciences Haramaya University Harar Ethiopia Department of Epidemiology and Biostatistics Haramaya University Harar Ethiopia Department of Medical Laboratory Sciences Haramaya University Harar Ethiopia School of Nursing and Midwifery Haramaya University Harar Ethiopia School of Pharmacy Haramaya University Harar Ethiopia School of Public Health Haramaya University Harar Ethiopia Haramaya University Harar Ethiopia Advanced Diagnostic and Interventional Radiology Research Center Tehran University of Medical Sciences Tehran Iran Cancer Biology Research Center Tehran University of Medical Sciences Tehran Iran Cancer Research Institute Tehran University of Medical Sciences Tehran Iran Department of Economics and Management Sciences for Health Tehran University of Medical Sciences Tehran Iran Department of Environmental Health Engineering Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Department of Health Management and Economics Tehran University of Medical Sciences Tehran Iran Department of Microbiology Tehran University of Medical Sciences Tehran Iran Department of Pharmacology Tehran University of Medical Sciences Tehran Iran Digestive Diseases Research Institute Tehran University of Medical Sciences Tehran Iran Endocrinology and Metabolism Research Center Tehran University of Medical Sciences Tehran Iran Hematology-Oncology and Stem Cell Transplantation Research Center Tehran University of Medical Sciences Tehran Iran Iran National Institute of Health Research Tehran University of Medical Sciences Tehran Iran Metabolomics and

Summary Background Across low-income and middle-income countries (LMICs), one in ten deaths in children younger than 5 years is attributable to diarrhoea. The substantial between-country variation in both diarrhoea incidence and mortality is attributable to interventions that protect children, prevent infection, and treat disease. Identifying subnational regions with the highest burden and mapping associated risk factors can aid in reducing preventable childhood *** We used Bayesian model-based geostatistics and a geolocated dataset comprising 15 072 746 children younger than 5 years from 466 surveys in 94 LMICs, in combination with findings of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017, to estimate posterior distributions of diarrhoea prevalence, incidence, and mortality from 2000 to 2017. From these data, we estimated the burden of diarrhoea at varying subnational levels (termed units) by spatially aggregating draws, and we investigated the drivers of subnational patterns by creating aggregated risk factor *** The greatest declines in diarrhoeal mortality were seen in south and southeast Asia and South America, where 54·0% (95% uncertainty interval [UI] 38·1-65·8), 17·4% (7·7-28·4), and 59·5% (34·2-86·9) of units, respectively, recorded decreases in deaths from diarrhoea greater than 10%. Although children in much of Africa remain at high risk of death due to diarrhoea, regions with the most deaths were outside Africa, with the highest mortality units located in Pakistan. Indonesia showed the greatest within-country geographical inequality; some regions had mortality rates nearly four times the average country rate. Reductions in mortality were correlated to improvements in water, sanitation, and hygiene (WASH) or reductions in child growth failure (CGF). Similarly, most high-risk areas had poor WASH, high CGF, or low oral rehydration therapy *** By co-analysing geospatial trends in d

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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (vol 52, pg 1314, 2020)

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NATURE GENETICS 2021年第5期53卷 762-762页

作者： Surendran, Praveen Feofanova, Elena V. Lahrouchi, Najim Ntalla, Ioanna Karthikeyan, Savita Cook, James Chen, Lingyan Mifsud, Borbala Yao, Chen Kraja, Aldi T. Cartwright, James H. Hellwege, Jacklyn N. Giri, Ayush Tragante, Vinicius Thorleifsson, Gudmar Liu, Dajiang J. Prins, Bram P. Stewart, Isobel D. Cabrera, Claudia P. Eales, James M. Akbarov, Artur Auer, Paul L. Bielak, Lawrence F. Bis, Joshua C. Braithwaite, Vickie S. Brody, Jennifer A. Daw, E. Warwick Warren, Helen R. Drenos, Fotios Nielsen, Sune Fallgaard Faul, Jessica D. Fauman, Eric B. Fava, Cristiano Ferreira, Teresa Foley, Christopher N. Franceschini, Nora Gao, He Giannakopoulou, Olga Giulianini, Franco Gudbjartsson, Daniel F. Guo, Xiuqing Harris, Sarah E. Havulinna, Aki S. Helgadottir, Anna Huffman, Jennifer E. Hwang, Shih-Jen Kanoni, Stavroula Kontto, Jukka Larson, Martin G. Li-Gao, Ruifang Lindstrom, Jaana Lotta, Luca A. Lu, Yingchang Luan, Jian'an Mahajan, Anubha Malerba, Giovanni Masca, Nicholas G. D. Mei, Hao Menni, Cristina Mook-Kanamori, Dennis O. Mosen-Ansorena, David Muller-Nurasyid, Martina Pare, Guillaume Paul, Dirk S. Perola, Markus Poveda, Alaitz Rauramaa, Rainer Richard, Melissa Richardson, Tom G. Sepulveda, Nuno Sim, Xueling Smith, Albert V. Smith, Jennifer A. Staley, James R. Stanakova, Alena Sulem, Patrick Theriault, Sebastien Thorsteinsdottir, Unnur Trompet, Stella Varga, Tibor V. Velez Edwards, Digna R. Veronesi, Giovanni Weiss, Stefan Willems, Sara M. Yao, Jie Young, Robin Yu, Bing Zhang, Weihua Zhao, Jing-Hua Zhao, Wei Zhao, Wei Evangelou, Evangelos Aeschbacher, Stefanie Asllanaj, Eralda Blankenberg, Stefan Bonnycastle, Lori L. Bork-Jensen, Jette Brandslund, Ivan Braund, Peter S. Burgess, Stephen Cho, Kelly Christensen, Cramer Connell, John de Mutsert, Renee Dominiczak, Anna F. Dorr, Marcus Eiriksdottir, Gudny Farmaki, Aliki-Eleni Gaziano, J. Michael Grarup, Niels Grove, Megan L. Hallmans, Goran Hansen, Torben Have, Christian T. Heiss, Gerardo Jorgensen, Marit E. Jousilahti, Pekka Kajantie, Eero Kamat, Mihir Karajamaki, AnneMari Kar British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK British Heart Foundation Centre of Research Excellence University of Cambridge Cambridge UK Health Data Research UK Cambridge Wellcome Genome Campus and University of Cambridge Cambridge UK Rutherford Fund Fellow Department of Public Health and Primary Care University of Cambridge Cambridge UK MRC Biostatistics Unit University of Cambridge Cambridge UK National Institute for Health Research Cambridge Biomedical Research Centre University of Cambridge and Cambridge University Hospitals Cambridge UK MRC Integrative Epidemiology Unit (IEU) Population Health Sciences Bristol Medical School University of Bristol Bristol UK Robertson Centre for Biostatistics University of Glasgow Glasgow UK MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK Department of Immunology and Inflammation Imperial College London London UK Centre for Non-communicable Disease Research (CNCR) Dhaka Bangladesh National Institute for Health Research (NIHR) Blood and Transplant Research Unit (BTRU) in Donor Health and Genomics at the University of Cambridge Cambridge UK Department of Human Genetics Wellcome Sanger Institute Wellcome Genome Campus Hinxton Cambridge UK Department of Biostatistics and Epidemiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Center for Non-Communicable Diseases Karachi Pakistan Department of Genetics Novo Nordisk Research Centre Oxford Oxford UK Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health University of Texas Health Science Center at Houston Houston TX USA Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Cardiovascular Research Center Center for Genomic Medicine

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A second update on mapping the human genetic architecture of COVID-19

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Nature 2023年第7977期621卷 E7-E26页

作者： Masahiro Kanai Christine Stevens Benjamin M. Neale Mark Daly Andrea Ganna Amy Trankiem Mary K. Balaconis Samuli Ripatti Lindo Nkambul Mark J. Daly Sam Bryant Matthew Solomonson Shea J. Andrews Mattia Cordioli Juha Karjalainen Juha Mehtonen Matti Pirinen Andrea Corbetta Bradley Jermy Kati Donner Katja Kivinen Aarno Palotie Mari Kaunisto Kumar Veerapen Konrad J. Karczewski Alicia R. Martin Elizabeth G. Atkinson Kristin Tsuo Nikolas Baya Rahul Gupta Raymond K. Walters Duncan S. Palmer Gopal Sarma Nathan Cheng Wenhan Lu Claire Churchhouse Jacqueline I. Goldstein Daniel King Wei Zhou Cotton Seed Hilary Finucane F. Kyle Satterstrom Gita A. Pathak Akiko Iwasaki Karolina Chwialkowska Karolina Chwiałkowska Brooke N. Wolford Hajar Fauzan Ahmad Shea Andrews Kathrin Aprile von Hohenstaufen Puoti Palwende R. Boua Guillaume Butler-Laporte Celia M. T. Greenwood Bartha M. Knoppers Mark Lathrop Carmen L. Cadilla Francesca Colombo Nicole Dueker Chloe Kirk Atanu Kumar Dutta Yasser M. El-Sherbiny Jehan J. El-Jawhari Doaa Shahin Ahmed Elzeiny Tamer A. Mansour Madonna M. Eltoukhy Attia A. S. Mohamed Sahar Esmaeeli Annika Faucon Israel Fernández Cadenas Israel Fernandez-Cadenas Laia Llucià-Carol Natalia Cullell Elena Muiño Jara Cárcel-Márquez Margherita Francescatto Laurent Francioli Lindokuhle Nkambule Jatin Arora Soumya Raychaudhuri Caroline Cusick Lude Franke Macarena Fuentes Macarena Fuentes-Guajardo David Gómez Cabrero Emi N. Harry Philip Jansen József L. Szentpéteri Réka Várnai Elżbieta Kaja Athanasios Kousathanas Dorote Pasko Mark J. Caulfield Alex Stuckey Christopher A. Odhams Susan Walker Daniel Rhodes Richard H. Scott Loukas Moutsianas Afshan Siddiq Peter Goddard Sally Donovan Tala Zainy Fiona Maleady-Crowe Linda Todd Shahla Salehi Greg Elgar Georgia Chan Prabhu Arumugam Christine Patch Augusto Rendon Tom A. Fowler Jose E. Krieger Sanjay K. Patel Audrey Lemaçon Sophie Limou Pietro Lió Eirini Marouli Charles Hinds Minttu M. Marttila Carolina Medina-Gómez Isabelle Migeotte Soumyajit Mondal Andrés Moreno-Estrada Leire Moya Tomok Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Institute for Molecular Medicine Finland University of Helsinki Helsinki Finland Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Public Health Faculty of Medicine University of Helsinki Helsinki Finland Analytic & Translational Genetics Unit Massachusetts General Hospital Boston MA USA Stanley Center for Psychiatric Research & Program in Medical and Population Genetics Cambridge UK Institute for Molecular Medicine Finland (FIMM) Univerisity of Helsinki Helsinki Finland University of California San Francisco San Francisco CA USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Department of Psychiatry School of Medicine Yale University New Haven CT USA Veteran Affairs Connecticut Healthcare System West Haven CT USA Yale University New Haven CT USA Centre for Bioinformatics and Data Analysis Medical University of Bialystok Bialystok Poland Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA Faculty of Industrial Sciences and Technology Universiti Malaysia Pahang Pahang Malaysia Icahn School of Medicine at Mount Sinai New York NY USA Genolier Innovation Network and Hub Swiss Medical Network Genolier Healthcare Campus Genolier Switzerland Immediate Independent Multidisciplinary Med & Biotech Research Association Milan Italy Clinical Research Unit of Nanor

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Tuberculosis infection and lung adenocarcinoma: Mendelian randomization and pathway analysis of genome-wide association study data from never-smoking Asian women

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Genomics 2020年第2期112卷 1223-1232页

作者： Jason Y Y Wong Han Zhang Chao A Hsiung Kouya Shiraishi Kai Yu Keitaro Matsuo Maria Pik Wong Yun-Chul Hong Jiucun Wang Wei Jie Seow Zhaoming Wang Minsun Song Hee Nam Kim I-Shou Chang Nilanjan Chatterjee Wei Hu Chen Wu Tetsuya Mitsudomi Wei Zheng Jin Hee Kim Adeline Seow Neil E Caporaso Min-Ho Shin Lap Ping Chung She-Juan An Ping Wang Yang Yang Hong Zheng Yasushi Yatabe Xu-Chao Zhang Young Tae Kim Qiuyin Cai Zhihua Yin Young-Chul Kim Bryan A Bassig Jiang Chang James Chung Man Ho Bu-Tian Ji Yataro Daigo Hidemi Ito Yukihide Momozawa Kyota Ashikawa Yoichiro Kamatani Takayuki Honda H Dean Hosgood Hiromi Sakamoto Hideo Kunitoh Koji Tsuta Shun-Ichi Watanabe Michiaki Kubo Yohei Miyagi Haruhiko Nakayama Shingo Matsumoto Masahiro Tsuboi Koichi Goto Jianxin Shi Lei Song Xing Hua Atsushi Takahashi Akiteru Goto Yoshihiro Minamiya Kimihiro Shimizu Kazumi Tanaka Fusheng Wei Fumihiko Matsuda Jian Su Yeul Hong Kim In-Jae Oh Fengju Song Wu-Chou Su Yu-Min Chen Gee-Chen Chang Kuan-Yu Chen Ming-Shyan Huang Li-Hsin Chien Yong-Bing Xiang Jae Yong Park Sun-Seog Kweon Chien-Jen Chen Kyoung-Mu Lee Batel Blechter Haixin Li Yu-Tang Gao Biyun Qian Daru Lu Jianjun Liu Hyo-Sung Jeon Chin-Fu Hsiao Jae Sook Sung Ying-Huang Tsai Yoo Jin Jung Huan Guo Zhibin Hu Wen-Chang Wang Charles C Chung Laurie Burdett Meredith Yeager Amy Hutchinson Sonja I Berndt Wei Wu Herbert Pang Yuqing Li Jin Eun Choi Kyong Hwa Park Sook Whan Sung Li Liu C H Kang Meng Zhu Chung-Hsing Chen Tsung-Ying Yang Jun Xu Peng Guan Wen Tan Chih-Liang Wang Michael Hsin Ko-Yung Sit James Ho Ying Chen Yi Young Choi Jen-Yu Hung Jun Suk Kim Ho Il Yoon Chien-Chung Lin In Kyu Park Ping Xu Yuzhuo Wang Qincheng He Reury-Perng Perng Chih-Yi Chen Roel Vermeulen Junjie Wu Wei-Yen Lim Kun-Chieh Chen Yao-Jen Li Jihua Li Hongyan Chen Chong-Jen Yu Li Jin Tzu-Yu Chen Shih-Sheng Jiang Jie Liu Taiki Yamaji Belynda Hicks Kathleen Wyatt Shengchao A Li Juncheng Dai Hongxia Ma Guangfu Jin Bao Song Zhehai Wang Sensen Cheng Xuelian Li Yangwu Ren Ping Cui Motoki Iwasaki Taichi Shimazu Shoichiro Tsugane Junjie Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA. Electronic address: jason.wong@nih.gov. Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA. Institute of Population Health Sciences National Health Research Institutes Zhunan Taiwan. Division of Genome Biology National Cancer Center Research Institute Tokyo Japan. Division of Cancer Epidemiology and Prevention Aichi Cancer Center Research Institute Nagoya Japan Department of Cancer Epidemiology Nagoya University Graduate School of Medicine Nagoya Japan. Department of Pathology Queen Mary Hospital The University of Hong Kong Hong Kong. Department of Preventive Medicine Seoul National University College of Medicine Seoul Republic of Korea. Ministry of Education Key Laboratory of Contemporary Anthropology School of Life Sciences Fudan University Shanghai China State Key Laboratory of Genetic Engineering School of Life Sciences Fudan University Shanghai China. Saw Swee Hock School of Public Health National University of Singapore Singapore. Cancer Genomics Research Laboratory Leidos Biomedical Research Inc Gaithersburg MD USA Department of Computational Biology St. Jude Children's Research Hospital Memphis TN USA. Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA Department of Statistics Sookmyung Women's University Seoul Republic of Korea. Department of Preventive Medicine Chonnam National University Medical School Gwangju Republic of Korea. National Institute of Cancer Research National Health Research Institutes Zhunan Taiwan. Bloomberg School of Public Health Johns Hopkins University Baltimore MD USA. Department of Etiology & Carcinogenesis and State Key Laboratory of Molecular Oncology Cancer Institute and Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China. Division of Thoracic Surgery Kinki University School of Medicine Sayama Japan. Division of

We investigated whether genetic susceptibility to tuberculosis (TB) influences lung adenocarcinoma development among never-smokers using TB genome-wide association study (GWAS) results within the Female Lung Cancer Consortium in Asia. Pathway analysis with the adaptive rank truncated product method was used to assess the association between a TB-related gene-set and lung adenocarcinoma using GWAS data from 5512 lung adenocarcinoma cases and 6277 controls. The gene-set consisted of 31 genes containing known/suggestive associations with genetic variants from previous TB-GWAS. Subsequently, we followed-up with Mendelian Randomization to evaluate the association between TB and lung adenocarcinoma using three genome-wide significant variants from previous TB-GWAS in East Asians. The TB-related gene-set was associated with lung adenocarcinoma (p = 0.016). Additionally, the Mendelian Randomization showed an association between TB and lung adenocarcinoma (OR = 1.31, 95% CI: 1.03, 1.66, p = 0.027). Our findings support TB as a causal risk factor for lung cancer development among never-smoking Asian women.

关键词： Lung adenocarcinoma Lung cancer Mendelian randomization Pathway analysis Tuberculosis

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Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study (vol 2, pg 144, 2021)

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LANCET GLOBAL HEALTH 2021年第4期9卷 E408-E408页

作者： Steinmetz, Jaimie D. Vision and Eye Research Institute Anglia Ruskin University Cambridge United Kingdom Biomedical Informatics Seoul National University Hospital Seoul South Korea Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Institute of Health Services Research Yonsei University Seoul South Korea Department of Ophthalmology University of Washington Seattle WA United States Department of Mathematics Imperial College London London United Kingdom WHO Collaborating Centre for Public Health Education and Training Imperial College London London United Kingdom Department of Primary Care and Public Health Imperial College London London United Kingdom School of Population and Global Health University of Melbourne Carlton VIC Australia School of Optometry and Vision Science UNSW Sydney NSW Australia Brien Holden Vision Institute Sydney Australia Department of Ophthalmology University of Adelaide Adelaide SA Australia Department of Parasitology and Mycology Jahrom University of Medical Sciences Jahrom Iran Department of Clinical Sciences University of Sharjah Sharjah United Arab Emirates Ophthalmic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Ophthalmology Shahid Beheshti University of Medical Sciences Tehran Iran Research Institute for Endocrine Sciences Shahid Beheshti University of Medical Sciences Tehran Iran Ophthalmic Epidemiology Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Health Services Management Department Qazvin University of Medical Sciences Qazvin Iran Department of Systems Populations and Leadership University of Michigan Ann Arbor MI United States Department of Medicine Sofia Ismail Memorial Medical Centre Bogura Bangladesh The Fred Hollows Foundation Sydney NSW Australia Berhan Public Health & Eye Care Consultancy Addis A

Hospital El Salvador: a novel paradigm of intensive care in response to COVID-19 in central America. Lancet Glob Health 2021;9: e241?42?In this Comment, the conflict of interest statement should have included the following: ?By virtue of their roles within a public hospital or the Ministry of Health, MB, LC, WH, and XS are government employees. The findings and conclusions in the Comment are only those of the authors.? This correction has been made as of Feb 26, 2021.

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