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Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population

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science Advances 2025年第23期11卷

作者： Ting-Yuan Liu Hsing-Fang Lu Yu-Chia Chen Chi-Chou Liao Ying-Ju Lin Jai-Sing Yang Wen-Ling Liao Wei-De Lin Shih-Yin Chen Yu-Chuen Huang Wei-Yong Lin Yu-Huei Liu Kai-Cheng Hsu Shih-Sheng Chang Hong-Da Chen Yu-Pao Chou Jan-Gowth Chang Chung-Hsing Wang Chwen-Tzuei Chang Chung-Ming Huang Kai-Jieh Yeo Tzu-Yuan Wang Chin-Chung Yeh Jiunn-Horng Chen Chi-Ping Huang Hsueh-Chou Lai Rong-Hsing Chen Hui-Ju Lin Po-Yuan Wu Jiu-Yao Wang Chin-Chi Kuo Der-Yang Cho Chang-Hai Tsai Fuu-Jen Tsai Million-person precision medicine initiative Department of Medical Research China Medical University Hospital Taichung 40402 Taiwan. Master Program for Digital Health Innovation China Medical University Taichung 406040 Taiwan. Department of Medical Research China Medical University Hospital Taichung 40402 Taiwan. Genetic Center Department of Medical Research China Medical University Hospital Taichung 40402 Taiwan. School of Post Baccalaureate Chinese Medicine China Medical University Taichung 404333 Taiwan. Graduate Institute of Integrated Medicine College of Chinese Medicine China Medical University Taichung 406040 Taiwan. Center for Personalized Medicine Department of Medical Research China Medical University Hospital Taichung 406040 Taiwan. School of Chinese Medicine China Medical University Taichung 406040 Taiwan. Drug Development Center China Medical University Taichung 406040 Taiwan. Artificial Intelligence Center China Medical University Hospital Taichung 40402 Taiwan. Department of Neurology China Medical University Hospital Taichung 40402 Taiwan. Department of Medicine China Medical University Taichung 406040 Taiwan. Department of Laboratory Medicine China Medical University Hospital Taichung 40402 Taiwan. Department of Bioinformatics and Medical Engineering Asia University Taichung 41300 Taiwan. Department of Medical Laboratory Science and Biotechnology China Medical University Taichung Taiwan. Division of Genetics and Metabolism Children's Hospital of China Medical University Taichung 404447 Taiwan. Intelligent Diabetes Metabolism and Exercise Center Department of Internal Medicine China Medical University Hospital Taichung 40402 Taiwan. Division of Immunology and Rheumatology Department of Internal Medicine China Medical University Hospital Taichung 40402 Taiwan. Division of Endocrine and Metabolism China Medical University Hospital Taichung 40402 Taiwan. Department of Urology China Medical University Hospital Taichung 40402 Taiwan. Cen

We addressed the underrepresentation of non-European populations in genome-wide association studies (GWASs) by building HiGenome, a large-scale genetic resource for the Taiwanese Han population. Using a custom genotyping array, we integrated deidentified electronic medical records (2003 to 2021) with genomic data to enable GWASs, phenome-wide association studies, and polygenic risk score (PRS) analysis. Among 413,000 participants, 323,397 passed ancestry and quality control filtering. GWASs covered 1085 traits, focusing on diseases prevalent in Taiwan such as type 2 diabetes, chronic kidney disease, gout, and alcoholic liver damage. PRSs were calculated for 238 traits, with the strongest associations observed in musculoskeletal disorders. Incorporating PRS into clinical practice supports early risk prediction and personalized prevention. To further expand translational value, we also conducted pharmacogenomic analysis and human leukocyte antigen typing. HiGenome offers a large-scale genetic and clinical dataset from the Taiwanese Han population, supporting population-specific analyses and precision medicine development in East Asia. The hospital-based design enables continuous follow-up and longitudinal data expansion.

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Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

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Nature genetics 2023年第6期55卷 1080页

作者： Bernardo Rodriguez-Martin Eva G Alvarez Adrian Baez-Ortega Jorge Zamora Fran Supek Jonas Demeulemeester Martin Santamarina Young Seok Ju Javier Temes Daniel Garcia-Souto Harald Detering Yilong Li Jorge Rodriguez-Castro Ana Dueso-Barroso Alicia L Bruzos Stefan C Dentro Miguel G Blanco Gianmarco Contino Daniel Ardeljan Marta Tojo Nicola D Roberts Sonia Zumalave Paul A Edwards Joachim Weischenfeldt Montserrat Puiggròs Zechen Chong Ken Chen Eunjung Alice Lee Jeremiah A Wala Keiran M Raine Adam Butler Sebastian M Waszak Fabio C P Navarro Steven E Schumacher Jean Monlong Francesco Maura Niccolo Bolli Guillaume Bourque Mark Gerstein Peter J Park David C Wedge Rameen Beroukhim David Torrents Jan O Korbel Iñigo Martincorena Rebecca C Fitzgerald Peter Van Loo Haig H Kazazian Kathleen H Burns Peter J Campbell Jose M C Tubio Department of Zoology Genetics and Physical Anthropology Universidade de Santiago de Compostela Santiago de Compostela Spain. 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. Transmissible Cancer Group Department of Veterinary Medicine University of Cambridge Cambridge UK. The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain. Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK. Genome Data Science Institute for Research in Biomedicine (IRB Barcelona) The Barcelona Institute of Science and Technology (BIST) Barcelona Spain. Institucio Catalana de Recerca i Estudis Avançats (ICREA) Barcelona Spain. The Francis Crick Institute London UK. Department of Human Genetics University of Leuven Leuven Belgium. Genomes and Disease Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Graduate School of Medical Science and Engineering Korea Advanced Institute of Science and Technology Daejeon South Korea. Cancer Ageing and Somatic Mutation Programme Wellcome Sanger Institute Cambridge UK. Department of Biochemistry Genetics and Immunology University of Vigo Vigo Spain. Galicia Sur Health Research Institute Vigo Spain. Faculty of Science and Technology University of Vic-Central University of Catalonia (UVic-UCC) Vic Spain. Barcelona Supercomputing Center (BSC) Barcelona Spain. Experimental Cancer Genetics Wellcome Sanger Institute Cambridge UK. Oxford Big Data Institute University of Oxford Oxford UK. DNA Repair and Genome Integrity Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Department of Biochemistry and Molecular Biology Universidade de Santiago de Compostela Santiago de Compostela Spain. Medical R

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Africa-specific human genetic variation near CHD1L associates with HIV-1 load (vol 620, pg 1025, 2023)

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NATURE 2023年第7979期621卷 E42-E42页

作者： McLaren, Paul J. Porreca, Immacolata Iaconis, Gennaro Mok, Hoi Ping Mukhopadhyay, Subhankar Karakoc, Emre Cristinelli, Sara Pomilla, Cristina Bartha, Istvan Thorball, Christian W. Tough, Riley H. Angelino, Paolo Kiar, Cher S. Carstensen, Tommy Fatumo, Segun Porter, Tarryn Jarvis, Isobel Skarnes, William C. Bassett, Andrew DeGorter, Marianne K. Moorthy, Mohana Prasad Sathya Tuff, Jeffrey F. Kim, Eun-Young Walter, Miriam Simons, Lacy M. Bashirova, Arman Buchbinder, Susan Carrington, Mary Cossarizza, Andrea De Luca, Andrea Goedert, James J. Goldstein, David B. Haas, David W. Herbeck, Joshua T. Johnson, Eric O. Kaleebu, Pontiano Kilembe, William Kirk, Gregory D. Kootstra, Neeltje A. Kral, Alex H. Lambotte, Olivier Luo, Ma Mallal, Simon Martinez-Picado, Javier Meyer, Laurence Miro, Jose M. Moodley, Pravi Motala, Ayesha A. Mullins, James I. Nam, Kireem Obel, Niels Pirie, Fraser Plummer, Francis A. Poli, Guido Price, Matthew A. Rauch, Andri Theodorou, Ioannis Trkola, Alexandra Walker, Bruce D. Winkler, Cheryl A. Zagury, Jean-Francois Montgomery, Stephen B. Ciuffi, Angela Hultquist, Judd F. Wolinsky, Steven M. Dougan, Gordon Lever, Andrew M. L. Gurdasani, Deepti Groom, Harriet Sandhu, Manjinder S. Fellay, Jacques Sexually Transmitted and Blood-Borne Infections Division at JC Wilt Infectious Diseases Research Centre National Microbiology Laboratory Branch Public Health Agency of Canada Winnipeg Manitoba Canada Department of Medical Microbiology and Infectious Diseases University of Manitoba Winnipeg Manitoba Canada Vaccine and Therapeutics Laboratory Medical and Scientific Affairs National Microbiology Laboratory Branch Public Health Agency of Canada Winnipeg Manitoba Canada Wellcome Trust Sanger Institute Hinxton UK Department of Medicine University of Cambridge Cambridge UK Department of Medicine National University of Singapore Singapore Singapore Peter Gorer Department of Immunobiology School of Immunology and Microbial Sciences King’s College London London UK Institute of Microbiology Lausanne University Hospital and University of Lausanne Lausanne Switzerland Global Health Institute School of Life Sciences École Polytechnique Fédérale de Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland Precision Medicine Unit Biomedical Data Science Center Lausanne University Hospital (CHUV) and University of Lausanne Lausanne Switzerland The African Computational Genomics (TACG) Research Group MRC/UVRI and LSHTM Uganda Research Unit Entebbe Uganda Department of Non-Communicable Disease Epidemiology Faculty of Epidemiology and Population Health London School of Hygiene and Tropical Medicine London UK The Jackson Laboratory for Genomic Medicine Farmington CT USA Department of Pathology Stanford University School of Medicine Stanford CA USA Department of Genetics Stanford University School of Medicine Stanford CA USA Division of Infectious Diseases Feinberg School of Medicine Northwestern University Chicago IL USA Basic Science Program Frederick National Laboratory for Cancer Research National Cancer Institute Frederick MD USA Laboratory of Integrative Cancer Immunology Center for Cancer Research National Cancer Institute Bethesda

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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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Modeling the causal regulatory network by integrating chromatin accessibility and transcriptome data

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National science Review 2016年第2期3卷 240-251页

作者： Yong Wang Rui Jiang Wing Hung Wong Department of Statistics Department of Biomedical Data ScienceBio-X ProgramStanford University Academy of Mathematics and Systems Science National Center for Mathematics and Interdisciplinary SciencesChinese Academy of Sciences MOE Key Laboratory of Bioinformatics Bioinformatics Division and Center for Synthetic and Systems BiologyTNLISTDepartment of AutomationTsinghua University

Cell packs a lot of genetic and regulatory information through a structure known as chromatin,*** is wrapped around histone proteins and is tightly packed in a remarkable *** express a gene in a specific coding region,the chromatin would open up and DNA loop may be formed by interacting enhancers and ***,the mediator and cohesion complexes,sequence-specific transcription factors,and RNA polymerase Ⅱ are recruited and work together to elaborately regulate the expression *** is in pressing need to understand how the information,about when,where,and to what degree genes should be expressed,is embedded into chromatin structure and gene regulatory *** to large consortia such as Encyclopedia of DNA Elements(ENCODE) and Roadmap Epigenomic projects,extensive data on chromatin accessibility and transcript abundance are available across many tissues and cell *** rich data offer an exciting opportunity to model the causal regulatory ***,we will review the current experimental approaches,foundational data,computational problems,interpretive frameworks,and integrative models that will enable the accurate interpretation of regulatory ***,we will discuss the efforts to organize,analyze,model,and integrate the DNA accessibility data,transcriptional data,and functional genomic regions *** believe that these efforts will eventually help us understand the information flow within the cell and will influence research directions across many fields.

关键词： gene regulatory network open chromatin DNA accessibility transcription factor colocalization statistical model data integration

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Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk

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European journal of human genetics : EJHG 2022年第5期30卷 630-631页

作者： Eileen O Dareng Jonathan P Tyrer Daniel R Barnes Michelle R Jones Xin Yang Katja K H Aben Muriel A Adank Simona Agata Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Gerasimos Aravantinos Banu K Arun Annelie Augustinsson Judith Balmaña Elisa V Bandera Rosa B Barkardottir Daniel Barrowdale Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Line Bjorge Amanda Black Natalia V Bogdanova Bernardo Bonanni Ake Borg James D Brenton Agnieszka Budzilowska Ralf Butzow Saundra S Buys Hui Cai Maria A Caligo Ian Campbell Rikki Cannioto Hayley Cassingham Jenny Chang-Claude Stephen J Chanock Kexin Chen Yoke-Eng Chiew Wendy K Chung Kathleen B M Claes Sarah Colonna Linda S Cook Fergus J Couch Mary B Daly Fanny Dao Eleanor Davies Miguel de la Hoya Robin de Putter Joe Dennis Allison DePersia Peter Devilee Orland Diez Yuan Chun Ding Jennifer A Doherty Susan M Domchek Thilo Dörk Andreas du Bois Matthias Dürst Diana M Eccles Heather A Eliassen Christoph Engel Gareth D Evans Peter A Fasching James M Flanagan Renée T Fortner Eva Machackova Eitan Friedman Patricia A Ganz Judy Garber Francesca Gensini Graham G Giles Gord Glendon Andrew K Godwin Marc T Goodman Mark H Greene Jacek Gronwald Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Holly R Harris Mikael Hartman Florian Heitz Michelle A T Hildebrandt Estrid Høgdall Claus K Høgdall John L Hopper Ruea-Yea Huang Chad Huff Peter J Hulick David G Huntsman Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul A James Ramunas Janavicius Allan Jensen Oskar Th Johannsson Esther M John Michael E Jones Daehee Kang Beth Y Karlan Anthony Karnezis Linda E Kelemen Elza Khusnutdinova Lambertus A Kiemeney Byoung-Gie Kim Susanne K Kjaer Ian Komenaka Jolanta Kupryjanczyk Allison W Kurian Ava Kwong Diether Lambrechts Melissa C Larson Conxi Lazaro Nhu D Le Goska Leslie Jenny Lester Fabienne Lesueur Douglas A Levine Lian Li Jingmei Li Jennifer T Loud Karen H Lu Jan Lubiński Phuong L Mai Siranoush Manoukian Jeffrey R Marks Ra University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK. University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK. Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA. Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands. Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands. The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands. Veneto Institute of Oncology IOV-IRCCS Immunology and Molecular Oncology Unit Padua Italy. Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada. University of Toronto Department of Molecular Genetics Toronto ON Canada. University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA. N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus. 'Agii Anargiri' Cancer Hospital Athens Greece. University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA. Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden. Vall d'Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain. University Hospital of Vall d'Hebron Department of Medical Oncology Barcelona Spain. Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA. Landspitali University Hospital Department of Pathology Reykjavik Iceland. University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland. University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany. Vanderbilt University School of Medicine Division of Epide

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Clinical response to azacitidine in MDS is associated with distinct DNA methylation changes in HSPCs

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Nature Communications 2025年第1期16卷 1-20页

作者： Thoms, Julie A. I. Yan, Feng Hampton, Henry R. Davidson, Sarah Joshi, Swapna Saw, Jesslyn Sarowar, Chowdhury H. Lim, Xin Ying Nunez, Andrea C. Kakadia, Purvi M. Bhuyan, Golam Sarower Zou, Xiaoheng Nguyen, Mary Ghodousi, Elaheh S. Koch, Forrest C. Vafaee, Fatemeh Thompson, I. Richard Karimi, Mohammad M. Pickford, Russell Raftery, Mark J. Hough, Sally Buckland, Griselda Bailey, Michelle Ghodke, Yuvaraj Absar, Noorul Vaughan, Lachlin Pasalic, Leonardo Fong, Chun Y. Kenealy, Melita Hiwase, Devendra K. Stoddart, Rohanna I. Mohammed, Soma Lee, Linda Passam, Freda H. Larsen, Stephen R. Spring, Kevin J. Skarratt, Kristen K. Rebeiro, Patricia Presgrave, Peter Stevenson, William S. Ling, Silvia Tiley, Campbell Fuller, Stephen J. Roncolato, Fernando Enjeti, Anoop K. Hoenemann, Dirk Lemech, Charlotte Jolly, Christopher J. Bohlander, Stefan K. Curtis, David J. Wong, Jason W. H. Unnikrishnan, Ashwin Hertzberg, Mark Olivier, Jake Polizzotto, Mark N. Pimanda, John E. School of Biomedical Sciences University of New South Wales Sydney NSW Australia Bioinformatics Division Walter and Eliza Hall Institute of Medical Research Parkville VIC Australia ANU Clinical Hub for Interventional Research (CHOIR) John Curtin School of Medical Research Canberra ACT Australia Kirby Institute University of New South Wales Sydney NSW Australia School of Clinical Medicine University of New South Wales Sydney NSW Australia Australian Centre for Blood Diseases Monash University Melbourne VIC Australia Leukaemia & Blood Cancer Research Unit Department of Molecular Medicine and Pathology Faculty of Medical and Health Sciences The University of Auckland Auckland New Zealand School of Biotechnology and Biomolecular Sciences University of New South Wales Sydney NSW Australia UNSW Data Science Hub University of New South Wales Sydney NSW Australia Comprehensive Cancer Centre School of Cancer and Pharmaceutical Sciences King’s College London London United Kingdom Bioanalytical Mass Spectrometry Facility University of New South Wales Sydney NSW Australia Westmead Hospital Sydney NSW Australia ICPMR Department of Haematology Westmead Hospital Sydney NSW Australia Department of Haematology Austin Health Melbourne VIC Australia Cabrini Hospital Melbourne VIC Australia Department of Haematology Royal Adelaide Hospital Adelaide SA Australia University of New South Wales Sydney NSW Australia Royal North Shore Hospital Sydney NSW Australia Haematology Research Group Heart Research Institute Sydney NSW Australia Institute of Haematology Royal Prince Alfred Hospital Sydney NSW Australia Medical Oncology Group Liverpool Clinical School School of Medicine Western Sydney University and Ingham Institute for Applied Medical Research Liverpool NSW Australia South-West Sydney Clinical Campuses UNSW Medicine & Health Sydney NSW Australia Sydney Medical School Nepean Clinical School Faculty of Medicine and Health University of Sydney

Hypomethylating agents are frontline therapies for myelodysplastic neoplasms (MDS), yet clinical responses remain unpredictable. We conducted a phase 2 trial comparing injectable and oral azacitidine (AZA) administered over one or three weeks per four-week cycle, with the primary objective of investigating whether response is linked to in vivo drug incorporation or DNA hypomethylation. Our findings show that injection results in higher drug incorporation, but lower DNA demethylation per cycle, while global DNA methylation levels in mononuclear cells are comparable between responders and non-responders. However, hematopoietic stem and progenitor cells (HSPCs) from responders exhibit distinct baseline and early treatment-induced CpG methylation changes at regulatory regions linked to tissue patterning, cell migration, and myeloid differentiation. By cycle six—when clinical responses typically emerge—further differential hypomethylation in responder HSPCs suggests marrow adaptation as a driver of improved hematopoiesis. These findings indicate that intrinsic baseline and early drug-induced epigenetic differences in HSPCs may underlie the variable clinical response to AZA in MDS. © The Author(s) 2025.

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Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight

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Nature genetics 2023年第7期55卷 1250页

作者： Pol Solé-Navais Christopher Flatley Valgerdur Steinthorsdottir Marc Vaudel Julius Juodakis Jing Chen Triin Laisk Abigail L LaBella David Westergaard Jonas Bacelis Ben Brumpton Line Skotte Maria C Borges Øyvind Helgeland Anubha Mahajan Matthias Wielscher Frederick Lin Catherine Briggs Carol A Wang Gunn-Helen Moen Robin N Beaumont Jonathan P Bradfield Abin Abraham Gudmar Thorleifsson Maiken E Gabrielsen Sisse R Ostrowski Dominika Modzelewska Ellen A Nohr Elina Hypponen Amit Srivastava Octavious Talbot Catherine Allard Scott M Williams Ramkumar Menon Beverley M Shields Gardar Sveinbjornsson Huan Xu Mads Melbye William Lowe Luigi Bouchard Emily Oken Ole B Pedersen Daniel F Gudbjartsson Christian Erikstrup Erik Sørensen Rolv T Lie Kari Teramo Mikko Hallman Thorhildur Juliusdottir Hakon Hakonarson Henrik Ullum Andrew T Hattersley Line Sletner Mario Merialdi Sheryl L Rifas-Shiman Thora Steingrimsdottir Denise Scholtens Christine Power Jane West Mette Nyegaard John A Capra Anne H Skogholt Per Magnus Ole A Andreassen Unnur Thorsteinsdottir Struan F A Grant Elisabeth Qvigstad Craig E Pennell Marie-France Hivert Geoffrey M Hayes Marjo-Riitta Jarvelin Mark I McCarthy Deborah A Lawlor Henriette S Nielsen Reedik Mägi Antonis Rokas Kristian Hveem Kari Stefansson Bjarke Feenstra Pål Njolstad Louis J Muglia Rachel M Freathy Stefan Johansson Ge Zhang Bo Jacobsson Department of Obstetrics and Gynaecology Sahlgrenska Academy Institute of Clinical Science University of Gothenburg Gothenburg Sweden. pol.sole.navais@gu.se. Department of Obstetrics and Gynaecology Sahlgrenska Academy Institute of Clinical Science University of Gothenburg Gothenburg Sweden. deCODE genetics/Amgen Reykjavik Iceland. Center for Diabetes Research Department of Clinical Science University of Bergen Bergen Norway. Division of Biomedical Informatics Cincinnati Children's Hospital Medical Center Cincinnati OH USA. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA. Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia. Department of Biological Sciences Vanderbilt University Nashville TN USA. Novo Nordisk Foundation Center for Protein Research University of Copenhagen Copenhagen Denmark. Department of Obstetrics and Gynaecology Copenhagen University Hospital Hvidovre Hvidovre Denmark. Methods and Analysis Statistics Denmark Copenhagen Denmark. K.G. Jebsen Center for Genetic Epidemiology Department of Public Health and Nursing Norwegian University of Science and Technology Trondheim Norway. Department of Epidemiology Research Statens Serum Institut Copenhagen Denmark. MRC Integrative Epidemiology Unit University of Bristol Bristol UK. Population Health Sciences Bristol Medical School University of Bristol Bristol UK. Department of Genetics and Bioinformatics Health Data and Digitalization Norwegian Institute of Public Health Oslo Norway. Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK. Genentech South San Francisco CA USA. Department of Epidemiology and Biostatistics MRC-PHE Centre for Environment and Health School of Public Health Imperial College London London UK. Department of Dermatology Medical University of Vienna Vienna Austria. Northwestern University Feinberg School of Medicine Chicago IL USA. Department of Population Medicine Harvard M

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Stroke genetics informs drug discovery and risk prediction across ancestries (vol 611, pg 115, 2022)

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NATURE 2022年第7938期612卷 E7-E7页

作者： Mishra, Aniket Malik, Rainer Hachiya, Tsuyoshi Jurgenson, Tuuli Namba, Shinichi Posner, Daniel C. Kamanu, Frederick K. Koido, Masaru Le Grand, Quentin Shi, Mingyang He, Yunye Georgakis, Marios K. Caro, Ilana Krebs, Kristi Liaw, Yi-Ching Vaura, Felix C. Lin, Kuang Winsvold, Bendik Slagsvold Srinivasasainagendra, Vinodh Parodi, Livia Bae, Hee-Joon Chauhan, Ganesh Chong, Michael R. Tomppo, Liisa Akinyemi, Rufus Roshchupkin, Gennady V. Habib, Naomi Jee, Yon Ho Thomassen, Jesper Qvist Abedi, Vida Carcel-Marquez, Jara Nygaard, Marianne Leonard, Hampton L. Yang, Chaojie Yonova-Doing, Ekaterina Knol, Maria J. Lewis, Adam J. Judy, Renae L. Ago, Tetsuro Amouyel, Philippe Armstrong, Nicole D. Bakker, Mark K. Bartz, Traci M. Bennett, David A. Bis, Joshua C. Bordes, Constance Borte, Sigrid Cain, Anael Ridker, Paul M. Cho, Kelly Chen, Zhengming Cruchaga, Carlos Cole, John W. de Jager, Phil L. de Cid, Rafael Endres, Matthias Ferreira, Leslie E. Geerlings, Mirjam I. Gasca, Natalie C. Gudnason, Vilmundur Hata, Jun He, Jing Heath, Alicia K. Ho, Yuk-Lam Havulinna, Aki S. Hopewell, Jemma C. Hyacinth, I. Hyacinth Inouye, Michael Jacob, Mina A. Jeon, Christina E. Jern, Christina Kamouchi, Masahiro Keene, Keith L. Kitazono, Takanari Kittner, Steven J. Konuma, Takahiro Kumar, Amit Lacaze, Paul Launer, Lenore J. Lee, Keon-Joo Lepik, Kaido Li, Jiang Li, Liming Manichaikul, Ani Markus, Hugh S. Marston, Nicholas A. Meitinger, Thomas Mitchell, Braxton D. Montellano, Felipe A. Morisaki, Takayuki Mosley, Thomas H. Nalls, Mike A. Nordestgaard, Borge G. O'Donnell, Martin J. Okada, Yukinori Onland-Moret, N. Charlotte Ovbiagele, Bruce Peters, Annette Psaty, Bruce M. Rich, Stephen S. Rosand, Jonathan Sabatine, Marc S. Sacco, Ralph L. Saleheen, Danish Sandset, Else Charlotte Salomaa, Veikko Sargurupremraj, Muralidharan Sasaki, Makoto Satizabal, Claudia L. Schmidt, Carsten O. Shimizu, Atsushi Smith, Nicholas L. Sloane, Kelly L. Sutoh, Yoichi Sun, Yan V. Tanno, Kozo Tiedt, Steffen Tatlisumak, Turgut Torres-Aguila, Nuria P. Tiwari, Hemant K. Tregouet, Bordeaux Population Health Research Center University of Bordeaux Inserm UMR 1219 Bordeaux France Department of Public Health Bordeaux University Hospital Bordeaux France Department of Neurology Memory Clinic Bordeaux University Hospital Bordeaux France Department of Neurology Institute for Neurodegenerative Diseases CHU de Bordeaux Bordeaux France Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of Harvard and the Massachusetts Institute of Technology Cambridge MA USA Munich Cluster for Systems Neurology Munich Germany German Center for Neurodegenerative Diseases (DZNE) Munich Germany Iwate Tohoku Medical Megabank Organization Iwate Medical University Iwate Japan Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Institute of Mathematics and Statistics University of Tartu Tartu Estonia Department of Computational Biology University of Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland University Center for Primary Care and Public Health Lausanne Switzerland Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan Department of Genome Informatics Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory for Systems Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan Integrated Frontier Research for Medical Science Division Institute for Open and Transdisciplinary Research Initiatives Osaka University Suita Japan Center for Infectious Disease Education and Research (CiDER) Osaka University Suita Japan Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA TIMI S

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Genome-wide association study of long COVID

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Nature genetics 2025年 2025 May 21页

作者： Vilma Lammi Tomoko Nakanishi Samuel E Jones Shea J Andrews Juha Karjalainen Beatriz Cortés Heath E O'Brien Ana Ochoa-Guzman Brian E Fulton-Howard Martin Broberg Hele H Haapaniemi Masahiro Kanai Matti Pirinen Axel Schmidt Ruth E Mitchell Abdou Mousas Massimo Mangino Alicia Huerta-Chagoya Nasa Sinnott-Armstrong Elizabeth T Cirulli Marc Vaudel Alex S F Kwong Amit K Maiti Minttu M Marttila Daniel C Posner Alexis A Rodriguez Chiara Batini Francesca Minnai Anna R Dearman C A Robert Warmerdam Celia B Sequeros Thomas W Winkler Daniel M Jordan Raimonds Rešcenko Lorenzo Miano Jacqueline M Lane Ryan K Chung Beatriz Guillen-Guio Olivia C Leavy Laura Carvajal-Silva Kevin Aguilar-Valdés Erika Frangione Lindsay Guare Ekaterina Vergasova Eirini Marouli Pasquale Striano Ummu Afeera Zainulabid Ashutosh Kumar Hajar Fauzan Ahmad Ryuya Edahiro Shuhei Azekawa Shiuh-Wen Luoh Christian Erikstrup Ole B V Pedersen Jordan Lerner-Ellis Alicia Colombo Joseph J Grzymski Makoto Ishii Yukinori Okada Noam D Beckmann Meena Kumari Ralf Wagner Iris M Heid Catherine John Patrick J Short Per Magnus Laura Ansone Luca V C Valenti Sulggi A Lee Louise V Wain Ricardo A Verdugo Karina Banasik Frank Geller Lude H Franke Alexander Rakitko Emma L Duncan Alessandra Renieri Konstantinos K Tsilidis Rafael de Cid Ahmadreza Niavarani Erik Abner Teresa Tusié-Luna Shefali S Verma George Davey Smith Nicholas J Timpson Ravi K Madduri Kelly Cho Mark J Daly Andrea Ganna Eva C Schulte J Brent Richards Kerstin U Ludwig Michael Marks-Hultström Hugo Zeberg Hanna M Ollila Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland. Department of Human Genetics McGill University Montreal Quebec Canada. Centre for Clinical Epidemiology Department of Medicine Lady Davis Institute Jewish General Hospital McGill University Montreal Quebec Canada. Kyoto-McGill International Collaborative Program in Genomic Medicine Graduate School of Medicine Kyoto University Kyoto Japan. Department of Genome Informatics Graduate School of Medicine the University of Tokyo Tokyo Japan. Research Fellow Japan Society for the Promotion of Science Tokyo Japan. Department of Psychiatry and Behavioral Sciences University of California San Francisco San Francisco CA USA. Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA USA. Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA. Genomes for Life-GCAT Lab CORE Program Germans Trias i Pujol Research Institute (IGTP) Badalona Spain. Grup de REcerca en Impacte de les Malalties Cròniques i les seves Trajectòries (GRIMTra) Barcelona Spain. Sano Genetics Limited London UK. Unidad de Biología Molecular y Medicina Genómica Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico. Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York City NY USA. Broad Institute Cambridge MA USA. Analytical and Translational Genetics Unit Massachusetts General Hospital Harvard Medical School Boston MA USA. Department of Mathematics and Statistics University of Helsinki Helsinki Finland. Department of Public Health University of Helsinki Helsinki Finland. Institute of Human Genetics University of Bonn School of Medicine and University Hospital Bonn Bonn Germany. MRC Integrative Epidemiology Unit University of Bristol Bristol

Infections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result in long coronavirus disease (COVID), typically manifesting as fatigue, pulmonary symptoms and cognitive dysfunction. The biological mechanisms behind long COVID remain unclear. We performed a genome-wide association study for long COVID including up to 6,450 long COVID cases and 1,093,995 population controls from 24 studies across 16 countries. We discovered an association of FOXP4 with long COVID, independent of its previously identified association with severe COVID-19. The signal was replicated in 9,500 long COVID cases and 798,835 population controls. Given the transcription factor FOXP4's role in lung physiology and pathology, our findings highlight the importance of lung function in the pathophysiology of long COVID.

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