文献

J-GLOBAL ID：202202213577882906   整理番号：22A0825278

遺伝率:全ゲノム塩基配列決定データから,複雑形質の遺伝率に対する希少なバリアントの寄与を評価する

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

著者 (120件)： WAINSCHTEIN Pierrick (Inst. for Molecular Bioscience, Univ. Queensland, Brisbane, Queensland, AUS) ,  ZHENG Zhili (Inst. for Molecular Bioscience, Univ. Queensland, Brisbane, Queensland, AUS) ,  YENGO Loic (Inst. for Molecular Bioscience, Univ. Queensland, Brisbane, Queensland, AUS) ,  YANG Jian (Inst. for Molecular Bioscience, Univ. Queensland, Brisbane, Queensland, AUS) ,  VISSCHER Peter M. (Inst. for Molecular Bioscience, Univ. Queensland, Brisbane, Queensland, AUS) ,  JAIN Deepti (Dep. of Biostatistics, Univ. Washington, Seattle, WA, USA) ,  MCKNIGHT Barbara (Dep. of Biostatistics, Univ. Washington, Seattle, WA, USA) ,  LAURIE Cecelia A. (Dep. of Biostatistics, Univ. Washington, Seattle, WA, USA) ,  LAURIE Cathy C. (Dep. of Biostatistics, Univ. Washington, Seattle, WA, USA) ,  WEIR Bruce S. (Dep. of Biostatistics, Univ. Washington, Seattle, WA, USA) ,  CUPPLES L. Adrienne (Dep. of Biostatistics, Boston Univ. School of Public Health, Boston, MA, USA) ,  LIU Ching-Ti (Dep. of Biostatistics, Boston Univ. School of Public Health, Boston, MA, USA) ,  CUPPLES L. Adrienne (Framingham Heart Study, Framingham, MA, USA) ,  VASAN Ramachandran S. (Framingham Heart Study, Framingham, MA, USA) ,  SHADYAB Aladdin H. (Herbert Wertheim School of Public Health and Human Longevity Sci., Univ. California San Diego, La Jolla, CA, USA) ,  SHOEMAKER Benjamin M. (Dep. of Medicine, Vanderbilt Univ. Medical Center, Nashville, TN, USA) ,  MITCHELL Braxton D. (Dep. of Medicine, Univ. Maryland School of Medicine, Baltimore, MD, USA) ,  O’CONNELL Jeffrey R. (Dep. of Medicine, Univ. Maryland School of Medicine, Baltimore, MD, USA) ,  MITCHELL Braxton D. (Geriatrics Res. and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD, USA) ,  PSATY Bruce M. (Cardiovascular Health Res. Unit, Dep. of Medicine, Univ. Washington, Seattle, WA, USA) ,  KOOPERBERG Charles (Div. of Public Health Sci., Fred Hutchinson Cancer Res. Center, Seattle, WA, USA) ,  SEIDMAN Jonathan (Harvard Medical School, Boston, MA, USA) ,  ALBERT Christine M. (Harvard Medical School, Boston, MA, USA) ,  ELLINOR Patrick T. (Harvard Medical School, Boston, MA, USA) ,  ALBERT Christine M. (Div. of Cardiovascular, Brigham and Women’s Hospital, Boston, MA, USA) ,  ALBERT Christine M. (Div. of Preventive Medicine, Brigham and Women’s Hospital, Boston, MA, USA) ,  CHASMAN Daniel I. (Div. of Preventive Medicine, Brigham and Women’s Hospital, Boston, MA, USA) ,  RODEN Dan (Departments of Medicine, Pharmacology and Bioinformatics, Vanderbilt Univ. Medical Center, Nashville, TN, USA) ,  DARBAR Dawood (Dep. of Medicine, Univ. Illinois-Chicago, Chicago, IL, USA) ,  LLOYD-JONES Donald M. (Dep. of Preventive Medicine, Northwestern Univ., Chicago, IL, USA) ,  ARNETT Donna K. (Dean’s Office, Coll. of Public Health, Univ. Kentucky, Lexington, KY, USA) ,  REGAN Elizabeth A. (Dep. of Medicine, National Jewish Health, Denver, CO, USA) ,  BOERWINKLE Eric (Health Sci. Center, Univ. Texas, Houston, TX, USA) ,  ROTTER Jerome I. (Inst. for Translational Genomics and Population Sci., Dep. of Pediatrics, Lundquist Inst. at Harbor-UCLA Medical Center, Torrance, CA, USA) ,  GUO Xiuqing (Inst. for Translational Genomics and Population Sci., Dep. of Pediatrics, Lundquist Inst. at Harbor-UCLA Medical Center, Torrance, CA, USA) ,  CHEN Y.-D Ida (Inst. for Translational Genomics and Population Sci., Dep. of Pediatrics, Lundquist Inst. at Harbor-UCLA Medical Center, Torrance, CA, USA) ,  YANEK Lisa R. (Div. of General Internal Medicine, Dep. of Medicine, Johns Hopkins Univ. School of Medicine, Baltimore, MD, USA) ,  DE ANDRADE Mariza (Dep. of Health Sci. Res., Mayo Clinic, Rochester, MN, USA) ,  ALLISON Matthew A. (Dep. of Family Medicine, Univ. California San Diego, La Jolla, CA, USA) ,  MCDONALD Merry-Lynn N. (Div. of Pulmonary, Allergy and Critical Care Medicine, Univ. Alabama at Birmingham, Birmingham, AL, USA) ,  CHUNG Mina K. (Dep. of Molecular Cardiology, Cleveland Clinic, Cleveland, OH, USA) ,  FORNAGE Myriam (Brown Foundation Inst. of Molecular Medicine, Univ. Texas Health Sci. Center at Houston, Houston, TX, USA) ,  CHAMI Nathalie (Charles Bronfman Inst. for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA) ,  LOOS Ruth J. F. (Charles Bronfman Inst. for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA) ,  CHAMI Nathalie (Mindich Inst. for Child Health and Dev., Icahn School of Medicine at Mount Sinai, New York, NY, USA) ,  LOOS Ruth J. F. (Mindich Inst. for Child Health and Dev., Icahn School of Medicine at Mount Sinai, New York, NY, USA) ,  SMITH Nicholas L. (Cardiovascular Health Res. Unit and Dep. of Epidemiology, Univ. Washington, Seattle, WA, USA) ,  SMITH Nicholas L. (Kaiser Permanente Washington Health Res. Inst., Seattle, WA, USA) ,  HECKBERT Susan R. (Kaiser Permanente Washington Health Res. Inst., Seattle, WA, USA) ,  SMITH Nicholas L. (Seattle Epidemiologic Res. and Information Center, Dep. of Veterans Affairs Office of Res. and Dev., Seattle, WA, USA) ,  HECKBERT Susan R. (Seattle Epidemiologic Res. and Information Center, Dep. of Veterans Affairs Office of Res. and Dev., Seattle, WA, USA) ,  ELLINOR Patrick T. (Cardiac Arrhythmia Serv., Massachusetts General Hospital, Boston, MA, USA) ,  LUBITZ Steven A. (Cardiac Arrhythmia Serv., Massachusetts General Hospital, Boston, MA, USA) ,  VASAN Ramachandran S. (Sections of Preventive Medicine and Cardiovascular Medicine, Dep. of Medicine, Boston Univ. School of Medicine, Boston, MA, USA) ,  VASAN Ramachandran S. (Dep. of Epidemiology, Boston Univ. School of Public Health, Boston, MA, USA) ,  MATHIAS Rasika A. (GeneSTAR Res. Program, Divisions of Allergy and Clinical Immunology and General Internal Medicine, Dep. of Medicine, Johns Hopkins Univ. School of Medicine, Baltimore, MD, USA) ,  RICH Stephen S. (Center for Public Health Genomics, Univ. Virginia, Charlottesville, VA, USA) ,  LUBITZ Steven A. (Cardiovascular Disease Initiative, Broad Inst. of Harvard and MIT, Cambridge, MA, USA) ,  REDLINE Susan (Div. of Sleep and Circadian Disorders, Brigham and Women’s Hospital, Boston, MA, USA) ,  REDLINE Susan (Div. of Sleep Medicine, Harvard Medical School, Boston, MA, USA) ,  REDLINE Susan (Div. of Pulmonary, Critical Care, and Sleep Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA) ,  HERNANDEZ Ryan D. (Dep. of Bioengineering and Therapeutic Sci., Univ. California San Francisco, San Francisco, CA, USA) ,  HERNANDEZ Ryan D. (Dep. of Human Genetics, McGill Univ., Montreal, Quebec, CAN) ,  MCGARVEY Stephen T. (International Health Inst., Dep. of Epidemiology, Brown Univ. School of Public Health, Providence, RI, USA) ,  GODDARD Michael E. (Centre for AgriBioscience, Dep. of Economic Dev., Jobs, Transport and Resources, Bundoora, Victoria, AUS) ,  GODDARD Michael E. (Fac. of Veterinary and Agricultural Sci., Univ. Melbourne, Parkville, Victoria, AUS) ,  NORTH Kari E. (Dep. of Epidemiology and Carolina Center of Genome Sci., Univ. North Carolina, Chapel Hill, NC, USA) ,  LANGE Leslie A. (Dep. of Medicine, Univ. Colorado, Aurora, CO, USA) ,  YANG Jian (School of Life Sci., Westlake Univ., Hangzhou Zhejiang, CHN) ,  VISSCHER Peter M. (Queensland Brain Inst., Univ. Queensland, Brisbane, Queensland, AUS) ,  ASLIBEKYAN Stella (Univ. Alabama, Birmingham, AL, USA) ,  HIDALGO Bertha (Univ. Alabama, Birmingham, AL, USA) ,  IRVIN Marguerite Ryan (Univ. Alabama, Birmingham, AL, USA) ,  BECKER Diane (Medicine, Johns Hopkins Univ., Baltimore, MD, USA) ,  BI Wenjian (Dep. of Biostatistics, Univ. Michigan, Ann Arbor, MI, USA) ,  LEE Seunggeun (Dep. of Biostatistics, Univ. Michigan, Ann Arbor, MI, USA) ,  BRODY Jennifer (Univ. Washington, Seattle, WA, USA) ,  ANDERSON Peter (Univ. Washington, Seattle, WA, USA) ,  BROOME Jai (Univ. Washington, Seattle, WA, USA) ,  DAVIS Colleen (Univ. Washington, Seattle, WA, USA) ,  EMERY Leslie (Univ. Washington, Seattle, WA, USA) ,  FRAZAR Chris (Univ. Washington, Seattle, WA, USA) ,  FULLERTON Stephanie M. (Univ. Washington, Seattle, WA, USA) ,  GOGARTEN Stephanie (Univ. Washington, Seattle, WA, USA) ,  JOHNSON Craig (Univ. Washington, Seattle, WA, USA) ,  KHAN Alyna (Univ. Washington, Seattle, WA, USA) ,  LEVINE David (Univ. Washington, Seattle, WA, USA) ,  RICE Ken (Univ. Washington, Seattle, WA, USA) ,  SMITH Josh (Univ. Washington, Seattle, WA, USA) ,  SOTOODEHNIA Nona (Univ. Washington, Seattle, WA, USA) ,  STILP Adrienne M. (Univ. Washington, Seattle, WA, USA) ,  SZPIRO Adam (Univ. Washington, Seattle, WA, USA) ,  THORNTON Timothy A. (Univ. Washington, Seattle, WA, USA) ,  TIRSCHWELL David (Univ. Washington, Seattle, WA, USA) ,  WANG Fei Fei (Univ. Washington, Seattle, WA, USA) ,  WONG Quenna (Univ. Washington, Seattle, WA, USA) ,  CARLSON Jenna C. (Dep. of Human Genetics, Univ. Pittsburgh, Pittsburgh, PA, USA) ,  RUSSELL Emily M. (Dep. of Human Genetics, Univ. Pittsburgh, Pittsburgh, PA, USA) ,  CORREA Adolfo (Population Health Sci., Univ. Mississippi, Jackson, MS, USA) ,  DU Margaret Mengmeng (Public Health Sci. Div., Fred Hutchinson Cancer Res. Center, Seattle, WA, USA) ,  FERNANDEZ-RHODES Lindsay (Dep. of Biobehavioral Health, Pennsylvania State Univ., Univ. Park, PA, USA) ,  FERRIER Kendra R. (Dep. of Medicine, Univ. Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA) ,  GRAW Sharon (Dep. of Medicine, Univ. Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA) ,  MESTRONI Luisa (Dep. of Medicine, Univ. Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA) ,  TAYLOR Matthew (Dep. of Medicine, Univ. Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA) ,  GRAFF Misa (Dep. of Epidemiology, Univ. North Carolina at Chapel Hill, Chapel Hill, NC, USA) ,  HIGHLAND Heather M. (Dep. of Epidemiology, Univ. North Carolina at Chapel Hill, Chapel Hill, NC, USA) ,  YASER Mohammad (Dep. of Epidemiology, Univ. North Carolina at Chapel Hill, Chapel Hill, NC, USA) ,  YONEYAMA Sachiko (Dep. of Epidemiology, Univ. North Carolina at Chapel Hill, Chapel Hill, NC, USA) ,  GUO Xiuqing (Lundquist Inst., Torrance, CA, USA) ,  LI Xiaohui (Lundquist Inst., Torrance, CA, USA) ,  LIN Henry (Lundquist Inst., Torrance, CA, USA) ,  HE Jiang ,  HEARD-COSTA Nancy L. ,  HIRSCHHORN Joel N. ,  HOWARD-CLAUDIO Candace M. ,  ISASI Carmen R. ,  QI Qibin ,  WANG Tao ,  JACKSON Rebecca
資料名： Nature Genetics  (Nature Genetics)
巻： 54  号： 3  ページ： 263-273  発行年： 2022年03月 
JST資料番号： W0430A  ISSN： 1061-4036  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： 血縁関係のない人についてのゲノムワイド関連解析データの分析から,ヒトの形質や疾患に関しては,遺伝率の約3分の1から3分の2がありふれたSNPによって捉えられることが示されている。しかし,残りの遺伝率が捉えられていないのは,ありふれたSNPでは原因バリアントが不完全にしか表されないからなのか,特に原因バリアントが希少だからなのか,あるいは家系図データからの推定における偏りのために遺伝率が過大に評価されてしまうのかは,解明されていない。本論文では,血縁関係のないヨーロッパ系の2万5465人の全ゲノム塩基配列決定データから,身長とボディーマス指数(BMI)の遺伝率を推定した。推定された遺伝率は,身長で0.68(標準誤差0.10),BMIで0.30(標準誤差0.10)であった。隣接するバリアントと低い連鎖不平衡(LD)にあるマイナー対立遺伝子頻度の低いバリアントによって遺伝率がよく説明され,また,これがタンパク質を変化させるバリアントの場合は特に大きく遺伝率が説明された。これは負の選択と一致する。我々の結果は,まれなバリアント,特に低い連鎖不平衡にある領域のバリアントが,複雑形質や複雑疾患のいまだ失われている遺伝率の主な源であることを示唆している。Copyright Nature Japan KK 2022

シソーラス用語： タンパク質 ,  *突然変異体 ,  *ヌクレオチド配列 ,  ヒト ,  *ゲノム ,  マイナ ,  ヨーロッパ ,  遺伝的連鎖 ,  人間 ,  指数 ,  遺伝子頻度 ,  *遺伝率 ,  身長 ,  ゲノムワイド関連解析
準シソーラス用語： 血縁 ,  連鎖不平衡 , 【Automatic Indexing@JST】

分類 (1件)： 遺伝的変異  (EC01030Y)

タイトルに関連する用語 (7件)： 遺伝率 ,  ゲノム ,  塩基配列 ,  形質 ,  遺伝 ,  バリアント ,  評価