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J-GLOBAL ID：201802265876173470   整理番号：18A0255795

巨細胞性動脈炎に関連したプラスミノーゲンおよびP4HA2におけるゲノムワイド関連研究リスク対立遺伝子を同定する【Powered by NICT】

A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

著者 (54件)： Carmona F. David (Instituto de Parasitologia y Biomedicina “Lopez-Neyra,” CSIC, PTS Granada, Granada 18016, Spain) ,  Carmona F. David (Departamento de Genetica e Instituto de Biotecnologia, Universidad de Granada, Granada 18016, Spain) ,  Vaglio Augusto (Unit of Nephrology, University Hospital of Parma, Parma 43126, Italy) ,  Mackie Sarah L. (School of Medicine, University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK) ,  Hernandez-Rodriguez Jose (Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clinic University of Barcelona, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona 08036, Spain) ,  Monach Paul A. (Section of Rheumatology, Boston University, Boston, MA 02118, USA) ,  Castaneda Santos (Department of Rheumatology, Hospital de la Princesa, IIS-IP, Madrid 28006, Spain) ,  Solans Roser (Autoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d’Hebron, Autonomous University of Barcelona, Barcelona 08035, Spain) ,  Morado Inmaculada C. (Department of Rheumatology, Hospital Clinico San Carlos, Madrid 28040, Spain) ,  Narvaez Javier (Department of Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L’Hospitalet de Llobregat, Barcelona 08907, Spain) ,  Ramentol-Sintas Marc (Autoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d’Hebron, Autonomous University of Barcelona, Barcelona 08035, Spain) ,  Pease Colin T. (School of Medicine, University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK) ,  Dasgupta Bhaskar (Department of Rheumatology, Southend University Hospital NHS Foundation Trust, Westcliff-on-Sea SS0 0RY, UK) ,  Watts Richard (Department of Rheumatology, Ipswich Hospital NHS Trust, Ipswich IP4 5PD, UK) ,  Khalidi Nader (Division of Rheumatology, McMaster University, Hamilton, ON L8N 1Y2, Canada) ,  Langford Carol A. (Division of Rheumatology, Cleveland Clinic, Cleveland, OH 44195, USA) ,  Ytterberg Steven (Division of Rheumatology, Mayo Clinic, Rochester, MN 55905, USA) ,  Boiardi Luigi (Rheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia 42123, Italy) ,  Beretta Lorenzo (Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan 20122, Italy) ,  Govoni Marcello (Department of Rheumatology, Azienda Ospedaliero Universitaria S. Anna, University of Ferrara, Ferrara 44121, Italy) ,  Emmi Giacomo (Department of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy) ,  Bonatti Francesco (Department of Clinical and Experimental Medicine, Medical Genetics Unit, University of Parma, Parma 43124, Italy) ,  Cimmino Marco A. (Research Laboratory and Academic Division of Clinical Rheumatology, Department of Internal Medicine, University of Genova, Genova 16132, Italy) ,  Witte Torsten (Hannover Medical School, Hannover 30625, Germany) ,  Neumann Thomas (Klinik fuer Innere Medizin III, University-Hospital Jena, Jena 07743, Germany) ,  Holle Julia (Vasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt 24576, Germany) ,  Schonau Verena (Department of Rheumatology and Immunology, Universitaetsklinikum Erlangen, Erlangen 91054, Germany) ,  Sailler Laurent (Service de Medecine Interne, Hopital de Purpan, CHU de Toulouse, UMR 1027, INSERM, Universite de Toulouse, Toulouse 31059, France) ,  Papo Thomas (Service de Medecine Interne, Hopital Bichat, Universite Paris-Diderot, Paris 75018, France) ,  Haroche Julien (Department of Internal Medicine & French Reference Center for Rare Auto-immune & Systemic Diseases, Assistance Publique-Hopitaux de Paris (AP-HP), Pitie-Salpetriere Hospital, Paris 75013, France) ,  Mahr Alfred (Department of Internal Medicine, Hospital Saint-Louis ECSTRA Team, Epidemiology and Biostatistics, Sorbonne Paris Cite Research Center UMR 1153, Inserm, University Paris Diderot, Paris 75010, France) ,  Mouthon Luc (Department of Internal Medicine, Cochin Hospital, National Referral Center for Rare Autoimmune and Systemic Diseases, AP-HP, Universite Paris Descartes, Paris 75014, France) ,  Molberg Oyvind (Department of Rheumatology, Oslo University Hospital, Oslo 0424, Norway) ,  Diamantopoulos Andreas P. (Department of Rheumatology, Hospital of Southern Norway Trust, Kristiansand 4604, Norway) ,  Voskuyl Alexandre (Amsterdam Rheumatology and Immunology Center, VU University Medical Center, Amsterdam 1007 MB, the Netherlands) ,  Brouwer Elisabeth (Department of Rheumatology and Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen 9713 GZ, Netherlands) ,  Daikeler Thomas (Rheumatology Department of Internal Medicine, University Hospital, Basel 4056, Switzerland) ,  Berger Christoph T. (Translational Immunology and Medical Outpatient Clinic, Departments of Biomedicine and Internal Medicine, University Hospital, Basel 4056, Switzerland) ,  Molloy Eamonn S. (Department of Rheumatology, Centre for Arthritis and Rheumatic Diseases, St Vincent’s University Hospital, Dublin Academic Medical Centre, Dublin 4, Ireland) ,  O’Neill Lorraine (Department of Rheumatology, Centre for Arthritis and Rheumatic Diseases, St Vincent’s University Hospital, Dublin Academic Medical Centre, Dublin 4, Ireland) ,  Blockmans Daniel (Department of General Internal Medicine, University Hospital Gasthuisberg, Leuven 3000, Belgium) ,  Lie Benedicte A. (Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo 0450, Norway) ,  Mclaren Paul (Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland) ,  Vyse Timothy J. (Divisions of Genetics and Molecular Medicine and Immunology, Infection and Inflammatory Disease, King’s College London, London SE1 9RT, UK) ,  Wijmenga Cisca (Department of Genetics, University Medical Center Groningen, Groningen 9713 AV, the Netherlands) ,  Allanore Yannick (Paris Descartes University, Rheumatology A department, Sorbonne Paris Cite, Cochin Hospital, Paris 75014, France) ,  Koeleman Bobby P.C. (Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands) ,  Barrett Jennifer H. (School of Medicine, University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK) ,  Cid Maria C. (Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clinic University of Barcelona, Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona 08036, Spain) ,  Salvarani Carlo (Rheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia 42123, Italy) ,  Merkel Peter A. (Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA) ,  Morgan Ann W. (School of Medicine, University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK) ,  Gonzalez-Gay Miguel A. (Department of Rheumatology, Hospital Universitario Marques de Valdecilla, IDIVAL, University of Cantabria, Santander 39008, Spain) ,  Martin Javier (Instituto de Parasitologia y Biomedicina “Lopez-Neyra,” CSIC, PTS Granada, Granada 18016, Spain)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 100  号： 1  ページ： 64-74  発行年： 2017年 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 巨細胞性動脈炎(GCA)は,西欧諸国の50歳以上の高齢者における血管炎の最も一般的な型である。GCAに対する感受性に影響する遺伝的背景に光を当てるために,良い入力の研究コホートにおけるゲノムワイド関連スクリーニングを行った。補完後,1,844,133種の遺伝的変異体はヨーロッパ人先祖の十の独立した集団から2,134例者と9,125人で解析した。著者らのデータは,最も強い関連領域(独立信号:rs9268905,P=1.94×10~ 54,CT60A/G OR=1.79;とrs9275592,P=1.14×10~ 40,OR=2.08)としてのHLAクラスIIを確認した。加えて,PLGおよびP4HA2は意義のゲノムワイドレベル(rs4252134,P=1.23×10~ 10,OR=1.28;とrs128738,P=4.60×10~ 9,OR=1.32)でGCAリスク遺伝子として同定された。興味深いことに,関連ピークはGCAの病態生理に関与する細胞タイプと組織に関連した異なる調節要素と重複することを観察した。PLGおよびP4HA2は血管リモデリングと血管新生に関与し,このタイプの血管炎の根底にある病原性機構に対するこれらの過程の高い関連性を示唆した。Copyright 2018 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【Powered by NICT】

シソーラス用語： 調節遺伝子 ,  *プラスミノーゲン ,  スクリーニング ,  老人 ,  血管炎 ,  感受性 ,  *対立遺伝子 ,  母集団 ,  病原性 ,  血管新生 ,  血管リモデリング ,  病態生理
準シソーラス用語： ヨーロッパ人 ,  遺伝的背景 ,  *巨細胞動脈炎 , 【Automatic Indexing@JST】

分類 (2件)： 循環系の診断  (GJ02000V) ,  循環系の臨床医学一般  (GJ01030V)

タイトルに関連する用語 (7件)： 巨細胞性動脈炎 ,  プラスミノーゲン ,  ゲノム ,  研究 ,  リスク ,  対立遺伝子 ,  同定