Mapping the proteo-genomic convergence of human diseases

DOI Web Site 1 Citations
  • Maik Pietzner
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Eleanor Wheeler
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Julia Carrasco-Zanini
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Adrian Cortes
    GlaxoSmithKline, Stevenage SG1 2NY, UK.
  • Mine Koprulu
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Maria A. Wörheide
    Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Erin Oerton
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • James Cook
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Isobel D. Stewart
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Nicola D. Kerrison
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Jian’an Luan
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Johannes Raffler
    Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Matthias Arnold
    Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Wiebke Arlt
    Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, UK.
  • Stephen O’Rahilly
    MRC Metabolic Diseases Unit, Wellcome Trust–Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Gabi Kastenmüller
    Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Eric R. Gamazon
    Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37203, USA.
  • Aroon D. Hingorani
    UCL British Heart Foundation Research Accelerator, Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK.
  • Robert A. Scott
    GlaxoSmithKline, Stevenage SG1 2NY, UK.
  • Nicholas J. Wareham
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.
  • Claudia Langenberg
    MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.

Description

<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>

Journal

  • Science

    Science 374 (6569), eabj1541-, 2021-11-12

    American Association for the Advancement of Science (AAAS)

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