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- Maik Pietzner
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Eleanor Wheeler
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Julia Carrasco-Zanini
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Adrian Cortes
- GlaxoSmithKline, Stevenage SG1 2NY, UK.
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- Mine Koprulu
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Maria A. Wörheide
- Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
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- Erin Oerton
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- James Cook
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Isobel D. Stewart
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Nicola D. Kerrison
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Jian’an Luan
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Johannes Raffler
- Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
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- Matthias Arnold
- Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
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- Wiebke Arlt
- Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, UK.
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- Stephen O’Rahilly
- MRC Metabolic Diseases Unit, Wellcome Trust–Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
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- Gabi Kastenmüller
- Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
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- Eric R. Gamazon
- Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37203, USA.
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- Aroon D. Hingorani
- UCL British Heart Foundation Research Accelerator, Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK.
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- Robert A. Scott
- GlaxoSmithKline, Stevenage SG1 2NY, UK.
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- Nicholas J. Wareham
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
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- Claudia Langenberg
- MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
説明
<jats:title>Detangling gene-disease connections</jats:title> <jats:p> Many diseases are at least partially due to genetic causes that are not always understood or targetable with specific treatments. To provide insight into the biology of various human diseases as well as potential leads for therapeutic development, Pietzner <jats:italic>et al</jats:italic> . undertook detailed, genome-wide proteogenomic mapping. The authors analyzed thousands of connections between potential disease-associated mutations, specific proteins, and medical conditions, thereby providing a detailed map for use by future researchers. They also supplied some examples in which they applied their approach to medical contexts as varied as connective tissue disorders, gallstones, and COVID-19 infections, sometimes even identifying single genes that play roles in multiple clinical scenarios. —YN </jats:p>
収録刊行物
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- Science
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Science 374 (6569), eabj1541-, 2021-11-12
American Association for the Advancement of Science (AAAS)