文献

J-GLOBAL ID：202202288121965895   整理番号：22A0427996

35遺伝子における希少コーディング変異体は循環脂質レベルと関連する 170,000エキソームの多祖先分析【JST・京大機械翻訳】

Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes

著者 (120件)： Hindy George (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA) ,  Hindy George (Department of Clinical Sciences, Lund University, Malmo, Sweden) ,  Hindy George (Department of Population Medicine, Qatar University College of Medicine, QU Health, Doha, Qatar) ,  Dornbos Peter (Programs in Metabolism and Medical & Population Genetics, Broad Institute, Cambridge, MA 02142, USA) ,  Dornbos Peter (Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA) ,  Dornbos Peter (Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA) ,  Chaffin Mark D. (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA) ,  Chaffin Mark D. (Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA) ,  Chaffin Mark D. (Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA) ,  Liu Dajiang J. (Department of Public Health Sciences, Penn State College of Medicine, Hershey, PA 17033, USA) ,  Wang Minxian (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA) ,  Wang Minxian (Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA) ,  Wang Minxian (Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA) ,  Selvaraj Margaret Sunitha (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA) ,  Selvaraj Margaret Sunitha (Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA) ,  Zhang David (Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ,  Zhang David (Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ,  Park Joseph (Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ,  Park Joseph (Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ,  Aguilar-Salinas Carlos A. (Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico) ,  Antonacci-Fulton Lucinda (Department of Genetics, Washington University in St. Louis, St. Louis, MO 63110, USA) ,  Antonacci-Fulton Lucinda (The McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA) ,  Ardissino Diego (ASTC: Associazione per lo Studio Della Trombosi in Cardiologia, Pavia, Italy) ,  Ardissino Diego (Azienda Ospedaliero-Universitaria di Parma, Parma, Italy) ,  Ardissino Diego (Universit, degli Studi di Parma, Parma, Italy) ,  Arnett Donna K. (Dean’s Office, College of Public Health, University of Kentucky, Lexington, KY 40536, USA) ,  Aslibekyan Stella (Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL 35233, USA) ,  Atzmon Gil (Departments of Medicine and Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA) ,  Atzmon Gil (University of Haifa, Faculty of Natural Science, Haifa, Israel) ,  Ballantyne Christie M. (Houston Methodist Debakey Heart and Vascular Center, Houston, TX 77030, USA) ,  Ballantyne Christie M. (Section of Cardiovascular Research, Baylor College of Medicine, Houston, TX 77030, USA) ,  Barajas-Olmos Francisco (Instituto Nacional de Medicina Genomica, Mexico City, Mexico) ,  Barzilai Nir (Departments of Medicine and Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA) ,  Becker Lewis C. (Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA) ,  Bielak Lawrence F. (Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 49109, USA) ,  Bis Joshua C. (Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA) ,  Blangero John (Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA) ,  Boerwinkle Eric (Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA) ,  Boerwinkle Eric (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Bonnycastle Lori L. (Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA) ,  Bottinger Erwin (Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA) ,  Bottinger Erwin (Digital Health Center, Hasso Plattner Institute, University of Potsdam, Potsdam, Germany) ,  Bowden Donald W. (Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA) ,  Bown Matthew J. (Department of Cardiovascular Sciences, University of Leicester, Leicester, UK) ,  Bown Matthew J. (NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, UK) ,  Brody Jennifer A. (Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA) ,  Broome Jai G. (Department of Biostatistics, University of Washington, Seattle, WA 98195, USA) ,  Burtt Noeel P. (Programs in Metabolism and Medical & Population Genetics, Broad Institute, Cambridge, MA 02142, USA) ,  Cade Brian E. (Department of Medicine, Brigham and Women’s Hospital, Boston, MA 02115, USA) ,  Cade Brian E. (Division of Sleep Medicine, Harvard Medical School, Boston, MA 02115, USA) ,  Centeno-Cruz Federico (Instituto Nacional de Medicina Genomica, Mexico City, Mexico) ,  Chan Edmund (Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore) ,  Chang Yi-Cheng (Institute of Biomedical Sciences, Academia Sinica, Taiwan) ,  Chen Yii-Der I. (The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA) ,  Cheng Ching-Yu (Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore) ,  Cheng Ching-Yu (Ophthalmology & Visual Sciences Academic Clinical Program (Eye ACP), Duke-NUS Medical School, Singapore) ,  Cheng Ching-Yu (Singapore Eye Research Institute, Singapore National Eye Centre, Singapore) ,  Choi Won Jung (Psomagen, Inc. (formerly Macrogen USA), 1330 Piccard Drive Ste 103, Rockville, MD 20850, USA) ,  Chowdhury Rajiv (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK) ,  Chowdhury Rajiv (Centre for Non-Communicable Disease Research, Bangladesh) ,  Contreras-Cubas Cecilia (Instituto Nacional de Medicina Genomica, Mexico City, Mexico) ,  Cordova Emilio J. (Instituto Nacional de Medicina Genomica, Mexico City, Mexico) ,  Correa Adolfo (Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA) ,  Cupples L. Adrienne (Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA) ,  Cupples L. Adrienne (NHLBI Framingham Heart Study, Framingham, MA 01702, USA) ,  Curran Joanne E. (Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA) ,  Danesh John (MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK) ,  Danesh John (The National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, Cambridge, UK) ,  de Vries Paul S. (Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA) ,  DeFronzo Ralph A. (Department of Medicine, University of Texas Health Science Center, San Antonio, TX 78229, USA) ,  Doddapaneni Harsha (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Duggirala Ravindranath (Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA) ,  Dutcher Susan K. (Department of Genetics, Washington University in St. Louis, St. Louis, MO 63110, USA) ,  Dutcher Susan K. (The McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA) ,  Ellinor Patrick T. (Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA) ,  Ellinor Patrick T. (Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA) ,  Emery Leslie S. (Department of Biostatistics, University of Washington, Seattle, WA 98195, USA) ,  Florez Jose C. (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA) ,  Florez Jose C. (Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA) ,  Florez Jose C. (Diabetes Research Center (Diabetes Unit), Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA) ,  Florez Jose C. (Department of Medicine, Harvard Medical School, Boston, MA 02115, USA) ,  Fornage Myriam (Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX 770030, USA) ,  Freedman Barry I. (Department of Internal Medicine, Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA) ,  Fuster Valentin (Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA) ,  Fuster Valentin (Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain) ,  Garay-Sevilla Ma. Eugenia ,  Garcia-Ortiz Humberto (Instituto Nacional de Medicina Genomica, Mexico City, Mexico) ,  Germer Soren ,  Gibbs Richard A. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Gibbs Richard A. ,  Gieger Christian ,  Gieger Christian ,  Gieger Christian ,  Glaser Benjamin ,  Gonzalez Clicerio ,  Gonzalez-Villalpando Maria Elena ,  Graff Mariaelisa ,  Graham Sarah E. ,  Grarup Niels ,  Groop Leif C. ,  Groop Leif C. ,  Guo Xiuqing (The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA) ,  Gupta Namrata (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA) ,  Han Sohee ,  Hanis Craig L. ,  Hansen Torben ,  Hansen Torben ,  He Jiang ,  He Jiang ,  Heard-Costa Nancy L. (NHLBI Framingham Heart Study, Framingham, MA 01702, USA) ,  Heard-Costa Nancy L. ,  Hung Yi-Jen ,  Hwang Mi Yeong ,  Irvin Marguerite R. ,  Islas-Andrade Sergio ,  Jarvik Gail P. ,  Kang Hyun Min ,  Kardia Sharon L.R. (Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 49109, USA) ,  Kelly Tanika ,  Kenny Eimear E. (Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 109  号： 1  ページ： 81-96  発行年： 2022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： 複雑な形質に対する大規模な遺伝子配列決定研究は,治療上の意味を持つ原因遺伝子を同定する可能性を有する。希少(マイナーアレル頻度<1%)の血液脂質レベルの遺伝子ベースの関連試験を実施し,複数の祖先からの>170,000個体からの配列データ,すなわち,97,493のヨーロッパ,30,025の南アジア,16,507のアフリカ,16,440のヒスパニック/ラチノ,10,420の東アジア,および1,182のSamoanのシーケンスデータを用いて損傷コーディング変異を予測した。循環脂質レベルに関連する35の遺伝子を同定した。これらの遺伝子のいくつかは,集団に基づく試料からの稀なコード変異を用いるとき,脂質レベルとは関連していない。希少コード変異体の凝集に基づく配列に基づくゲノムワイド関連研究(GWAS)遺伝子座における32の遺伝子を優先した。3つの(EVI5,SH2B3,およびPLIN1)は,脂質レベルとまれなコーディング変異体の事前の会合がなかった。大部分の関連遺伝子は,複数の祖先間の関連の証拠を示した。最後に,低密度リポ蛋白質コレステロール薬物標的遺伝子およびGWAS指数単一ヌクレオチド多型(SNP)に最も近い遺伝子に対する遺伝子に基づく会合の濃縮を観察した。著者らの結果は,遺伝子に基づく関連が薬物標的開発に有益であり,配列に基づくGWAS指標SNPに最も近い遺伝子が血中脂質レベルに対する機能的遺伝子であるという証拠を提供する。Copyright 2022 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： *遺伝子 ,  *脂質 ,  東アジア ,  アフリカ ,  ヨーロッパ ,  遺伝子頻度 ,  南アジア ,  一塩基多型 ,  ゲノムワイド関連解析 ,  LDLコレステロール ,  ステロール ,  脂環式アルコール
準シソーラス用語： 血中脂質 ,  遺伝子配列 ,  原因遺伝子 ,  *エクソーム , 【Automatic Indexing@JST】

著者キーワード (5件)： エクソーム配列決定 ,  関連 ,  脂質 ,  コレステロール ,  遺伝子に基づく関連

分類 (1件)： 遺伝的変異  (EC01030Y)

物質索引 (1件)： コレステロール

タイトルに関連する用語 (7件)： 遺伝子 ,  コーディング ,  変異体 ,  循環 ,  脂質 ,  エキソーム ,  分析