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J-GLOBAL ID：202002256712476912   整理番号：20A2460618

ゲノムワイドMeta分析はALSL5-ZDHHC6遺伝子座を発見し,ALSに関連し,疾患遺伝学への体重減少に関連する【JST・京大機械翻訳】

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

著者 (52件)： Iacoangeli Alfredo (Department of Biostatistics and Health Informatics, King’s College London, London, UK) ,  Iacoangeli Alfredo (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Iacoangeli Alfredo (National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King’s College London, London, UK) ,  Lin Tian (Institute for Molecular Bioscience, The University of Queensland, Brisbane, Brisbane QLD 4072, Australia) ,  Al Khleifat Ahmad (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Jones Ashley R. (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Opie-Martin Sarah (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Coleman Jonathan R.I. (National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King’s College London, London, UK) ,  Coleman Jonathan R.I. (Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK) ,  Shatunov Aleksey (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Sproviero William (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Williams Kelly L. (Centre for Motor Neuron Disease Research, Macquarie University, Sidney NSW 2109, Australia) ,  Garton Fleur (Institute for Molecular Bioscience, The University of Queensland, Brisbane, Brisbane QLD 4072, Australia) ,  Restuadi Restuadi (Institute for Molecular Bioscience, The University of Queensland, Brisbane, Brisbane QLD 4072, Australia) ,  Henders Anjali K. (Institute for Molecular Bioscience, The University of Queensland, Brisbane, Brisbane QLD 4072, Australia) ,  Mather Karen A. (Centre for Healthy Brain Ageing, School of Psychiatry, UNSW Medicine, University of New South Wales, Sydney NSW, Australia) ,  Mather Karen A. (Neuroscience Research Australia, Randwick NSW, Australia) ,  Needham Merilee (Fiona Stanley Hospital, 11 Robin Warren Drive, Murdoch Perth WA 6150, Australia) ,  Needham Merilee (Notre Dame University, 32 Mouat Street, Fremantle WA 6160, Australia) ,  Needham Merilee (Murdoch University, 90 South Street, Murdoch WA 6150, Australia) ,  Mathers Susan (Calvary Health Care Bethlehem, Parkdale VIC 3195, Australia) ,  Nicholson Garth A. (ANZAC Research Institute, Concord Repatriation General Hospital, Sydney NSW 2139, Australia) ,  Rowe Dominic B. (Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK) ,  Henderson Robert (Centre for Clinical Research, The University of Queensland, Brisbane QLD, Australia) ,  Henderson Robert (Queensland Brain Institute, The University of Queensland, Brisbane QLD, Australia) ,  McCombe Pamela A. (Centre for Clinical Research, The University of Queensland, Brisbane QLD, Australia) ,  McCombe Pamela A. (Department of Neurology, Royal Brisbane and Women’s Hospital, Brisbane QLD, Australia) ,  Pamphlett Roger (Brain and Mind Centre, The University of Sydney, Sydney NSW, Australia) ,  Blair Ian P. (Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK) ,  Schultz David (Flinders Medical Centre, Bedford Park SA 5042, Australia) ,  Sachdev Perminder S. (Centre for Healthy Brain Ageing, School of Psychiatry, UNSW Medicine, University of New South Wales, Sydney NSW, Australia) ,  Sachdev Perminder S. (Neuropsychiatric Institute, Prince of Wales Hospital, Sydney NSW Australia) ,  Newhouse Stephen J. (Department of Biostatistics and Health Informatics, King’s College London, London, UK) ,  Newhouse Stephen J. (National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King’s College London, London, UK) ,  Newhouse Stephen J. (Institute of Health Informatics, University College London, London, UK) ,  Proitsi Petroula (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Fogh Isabella (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Fogh Isabella (Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy) ,  Ngo Shyuan T. (Centre for Clinical Research, The University of Queensland, Brisbane QLD, Australia) ,  Ngo Shyuan T. (Queensland Brain Institute, The University of Queensland, Brisbane QLD, Australia) ,  Ngo Shyuan T. (Department of Neurology, Royal Brisbane and Women’s Hospital, Brisbane QLD, Australia) ,  Ngo Shyuan T. (Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane QLD, Australia) ,  Dobson Richard J.B. (Department of Biostatistics and Health Informatics, King’s College London, London, UK) ,  Dobson Richard J.B. (National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King’s College London, London, UK) ,  Dobson Richard J.B. (Institute of Health Informatics, University College London, London, UK) ,  Wray Naomi R. (Institute for Molecular Bioscience, The University of Queensland, Brisbane, Brisbane QLD 4072, Australia) ,  Wray Naomi R. (Queensland Brain Institute, The University of Queensland, Brisbane QLD, Australia) ,  Steyn Frederik J. (Centre for Clinical Research, The University of Queensland, Brisbane QLD, Australia) ,  Steyn Frederik J. (Department of Neurology, Royal Brisbane and Women’s Hospital, Brisbane QLD, Australia) ,  Steyn Frederik J. (School of Biomedical Sciences, The University of Queensland, Brisbane QLD, Australia) ,  Al-Chalabi Ammar (Maurice Wohl Clinical Neuroscience Institute, King’s College London, Department of Basic and Clinical Neuroscience, London, UK) ,  Al-Chalabi Ammar (King’s College Hospital, Bessemer Road, London SE5 9RS, UK)
資料名： Cell Reports  (Cell Reports)
巻： 33  号： 4  ページ： Null  発行年： 2020年 
JST資料番号： W3124A  ISSN： 2211-1247  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 著者らは,ヨーロッパおよび中国人集団(84,694個体)の筋萎縮性側索硬化症(ALS)ゲノムワイド関連研究(GWAS)データをメタ分析した。著者らは,独立したオーストラリアコホート(1502個体;p=0.037)における複製によって,ALS(p=8.3×10-9)とACSL5-ZDHHC6とにわたるrs58854276間の付加的有意な関連を見出した。さらに,B4GALNT1,G2E3-SCFD1,およびTRIP11-ATXN3を遺伝子ベースの分析を使用して同定した。ACSL5は,他のALS関連遺伝子,GPX3と同様に,急速な体重減少と関連していた。体重減少はALS患者で高頻度であり,より短い生存と関連する。ACSL5とGPX3一塩基多型(SNP)の効果を,77人の患者と77人の対照の縦体組成と体重データを用いて検討した。患者の無脂肪量では,有意ではないが,予想方向(rs5885476:-2.1±1.3kg/A対立遺伝子,p=0.053;rs3828599:-1.0±1.3kg/A対立遺伝子,p=0.22)の影響を観察した。対照では効果は見られなかった。著者らの知見は,ALSにおける脂質代謝への関心の増加を支持し,患者の体重減少に対する疾患遺伝学をリンクする。Copyright 2020 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 ,  脂質代謝 ,  ヨーロッパ ,  対立遺伝子 ,  筋萎縮性側索硬化症 ,  メタ分析 ,  一塩基多型 ,  ゲノムワイド関連解析
準シソーラス用語： ゲノミクス ,  身体成分 ,  中国人 ,  脂肪量 ,  発現量的形質遺伝子座 , 【Automatic Indexing@JST】

著者キーワード (10件)： 筋萎縮性側索硬化症 ,  運動ニューロン疾患 ,  交差民族メタ分析 ,  体重減少 ,  ゲノムワイド関連研究 ,  遺伝学 ,  ゲノミクス ,  eQTL ,  無脂肪質量 ,  縦断的研究

分類 (1件)： 遺伝的変異  (EC01030Y)

タイトルに関連する用語 (8件)： ゲノム ,  分析 ,  遺伝子座 ,  発見 ,  ALS ,  疾患 ,  遺伝 ,  体重減少