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J-GLOBAL ID：201702243514762926   整理番号：17A0363140

ヒト血液細胞形質変異の対立遺伝子景観と一般的な複雑な疾患との関連【Powered by NICT】

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

著者 (120件)： Astle William J. (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Astle William J. (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Astle William J. (Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Forvie Site, Robinson Way, Cambridge CB2 0SR, UK) ,  Astle William J. (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Elding Heather (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Elding Heather (The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Jiang Tao (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Allen Dave (Blood Research Group, NHS Blood and Transplant, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9BQ, UK) ,  Ruklisa Dace (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Ruklisa Dace (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Ruklisa Dace (Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Forvie Site, Robinson Way, Cambridge CB2 0SR, UK) ,  Mann Alice L. (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Mead Daniel (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Bouman Heleen (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Riveros-Mckay Fernando (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Kostadima Myrto A. (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Kostadima Myrto A. (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Kostadima Myrto A. (European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK) ,  Lambourne John J. (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Lambourne John J. (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Sivapalaratnam Suthesh (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Sivapalaratnam Suthesh (Department of Haematology, Barts Health NHS Trust, The Royal London Hospital, Whitechapel Road, London, London E1 1BB, UK) ,  Downes Kate (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Downes Kate (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Kundu Kousik (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Kundu Kousik (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Bomba Lorenzo (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Berentsen Kim (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Bradley John R. (Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0QQ, UK) ,  Bradley John R. (National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge University Hospitals, Cambridge CB2 0QQ, UK) ,  Daugherty Louise C. (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Daugherty Louise C. (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Daugherty Louise C. (NIHR BioResource-Rare Diseases, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Delaneau Olivier (Departement de Genetique et Developpement (GEDEV), University of Geneva, 1211 Geneve 4, Switzerland) ,  Freson Kathleen (Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium) ,  Garner Stephen F. (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Garner Stephen F. (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Grassi Luigi (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Grassi Luigi (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Guerrero Jose (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Guerrero Jose (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Haimel Matthias (Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0QQ, UK) ,  Haimel Matthias (NIHR BioResource-Rare Diseases, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Janssen-Megens Eva M. (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Kaan Anita (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Kamat Mihir (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Kim Bowon (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Mandoli Amit (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Marchini Jonathan (Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK) ,  Marchini Jonathan (Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK) ,  Martens Joost H.A. (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Meacham Stuart (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Meacham Stuart (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Meacham Stuart (NIHR BioResource-Rare Diseases, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Megy Karyn (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Megy Karyn (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Megy Karyn (NIHR BioResource-Rare Diseases, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  O’Connell Jared (Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK) ,  O’Connell Jared (Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK) ,  Petersen Romina (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Petersen Romina (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Sharifi Nilofar (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Sheard Simon M. (UK Biobank Ltd., 1-4 Spectrum Way, Adswood, Stockport SK3 0SA, UK) ,  Staley James R. (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Tuna Salih (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Tuna Salih (NIHR BioResource-Rare Diseases, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  van der Ent Martijn (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Walter Klaudia (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Wang Shuang-Yin (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Wheeler Eleanor (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Wilder Steven P. (European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK) ,  Iotchkova Valentina (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Iotchkova Valentina (European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK) ,  Moore Carmel (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Sambrook Jennifer (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Sambrook Jennifer (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Sambrook Jennifer (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Stunnenberg Hendrik G. (Department of Molecular Biology, Radboud University, Faculty of Science, Nijmegen 6525GA, the Netherlands) ,  Di Angelantonio Emanuele (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Di Angelantonio Emanuele (The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Di Angelantonio Emanuele (British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 0QQ, UK) ,  Kaptoge Stephen (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Kaptoge Stephen (The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Kuijpers Taco W. (Emma Children’s Hospital, Academic Medical Center (AMC), University of Amsterdam, Location H7-230, Meibergdreef 9, Amsterdam 1105AZ, the Netherlands) ,  Kuijpers Taco W. (Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Plesmanlaan 125, Amsterdam, 1066CX, the Netherlands) ,  Carrillo-de-Santa-Pau Enrique (Structural Biology and BioComputing Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernandez Almagro, 3, 28029 Madrid, Spain) ,  Juan David (Structural Biology and BioComputing Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernandez Almagro, 3, 28029 Madrid, Spain) ,  Rico Daniel (Structural Biology and BioComputing Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernandez Almagro, 3, 28029 Madrid, Spain) ,  Rico Daniel (Institute of Cellular Medicine, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK) ,  Valencia Alfonso (Structural Biology and BioComputing Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernandez Almagro, 3, 28029 Madrid, Spain) ,  Chen Lu (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Chen Lu (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Ge Bing (Human Genetics, McGill University, 740 Dr. Penfield, Montreal, QC H3A 0G1, Canada) ,  Vasquez Louella (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Kwan Tony (Human Genetics, McGill University, 740 Dr. Penfield, Montreal, QC H3A 0G1, Canada) ,  Garrido-Martin Diego (Bioinformatics and Genomics, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Carrer del Dr. Aiguader, 88, Barcelona 8003, Spain) ,  Garrido-Martin Diego (Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF), Placa de la Merce, 10- 12, Barcelona 8002, Spain) ,  Watt Stephen (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Yang Ying (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Guigo Roderic (Bioinformatics and Genomics, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Carrer del Dr. Aiguader, 88, Barcelona 8003, Spain) ,  Guigo Roderic (Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF), Placa de la Merce, 10- 12, Barcelona 8002, Spain) ,  Guigo Roderic (Computational Genomics, Institut Hospital del Mar d’Investigacions Mediques (IMIM), Carrer del Dr. Aiguader, 88, Barcelona 8003, Spain) ,  Beck Stephan (UCL Cancer Institute, University College London, 72 Huntley Street, London WC1E 6BT, UK) ,  Paul Dirk S. (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Paul Dirk S. (UCL Cancer Institute, University College London, 72 Huntley Street, London WC1E 6BT, UK) ,  Pastinen Tomi (Human Genetics, McGill University, 740 Dr. Penfield, Montreal, QC H3A 0G1, Canada) ,  Bujold David (Human Genetics, McGill University, 740 Dr. Penfield, Montreal, QC H3A 0G1, Canada) ,  Bourque Guillaume (Human Genetics, McGill University, 740 Dr. Penfield, Montreal, QC H3A 0G1, Canada) ,  Frontini Mattia (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Frontini Mattia (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Frontini Mattia (British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 0QQ, UK) ,  Danesh John (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Danesh John (Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK) ,  Danesh John (The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge CB1 8RN, UK) ,  Danesh John (National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge University Hospitals, Cambridge CB2 0QQ, UK) ,  Danesh John (British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 0QQ, UK) ,  Roberts David J. (Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, UK) ,  Roberts David J. (Department of Haematology, Churchill Hospital, Headington, Oxford OX3 7LE, UK) ,  Ouwehand Willem H. (Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK) ,  Ouwehand Willem H. (National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK)
資料名： Cell (Cambridge, Mass.)  (Cell (Cambridge, Mass.))
巻： 167  号： 5  ページ： 1415-1429.e19  発行年： 2016年 
JST資料番号： A0707B  ISSN： 0092-8674  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： 多くの共通変異は血液学的形質と関連しているが,原因遺伝子と経路の同定は困難なことが証明されている。英国バイオバンクと区間研究におけるゲノムワイド関連解析を行い,173,480ヨーロッパ系参加者における36赤血球,白血球,および血小板特性との関係で二千九百五十万遺伝的変異体を試験した。この努力は血液細胞表現型への強い影響のある百の低周波数(<5%)及び微量発現(<1%)変異体が得られた。著者らのデータは,複雑な形質の対立遺伝子構成の一般的性質,異なるゲノム調節領域にわたる多遺伝子性信号によって説明各血液形質の遺伝的成分の割合を明らかにした。最後に,メンデル無作為化を通して,著者らは血液細胞指数が関係する複雑な病理と共有遺伝的経路の証拠,自己免疫疾患,統合失調症,および冠状動脈性心臓病を含むを提供し,血液細胞指数,および心血管疾患の間の以前に報告された個体群の関連を示唆する証拠は,非因果的である可能性がある。Copyright 2017 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【Powered by NICT】

シソーラス用語： 血小板 ,  統合失調症 ,  表現型 ,  英国 ,  遺伝学 ,  *遺伝 ,  赤血球 ,  *対立遺伝子 ,  *ヒト ,  病理 ,  ゲノム ,  ゲノムワイド関連解析 ,  *変異
準シソーラス用語： 原因遺伝子 ,  *血液細胞 , 【Automatic Indexing@JST】

著者キーワード (9件)： 血液 ,  遺伝学 ,  血液学 ,  エピジェネティクス ,  造血 ,  メンデルランダム化 ,  複合体病 ,  自己免疫疾患 ,  循環器疾患

分類 (2件)： 生物学的機能  (EB03040U) ,  細胞生理一般  (EF02010S)

タイトルに関連する用語 (7件)： ヒト ,  血液細胞 ,  形質 ,  変異 ,  対立遺伝子 ,  景観 ,  疾患