Mapping the proteo-genomic convergence of human diseases

Author:

Pietzner Maik12ORCID,Wheeler Eleanor1ORCID,Carrasco-Zanini Julia1ORCID,Cortes Adrian3ORCID,Koprulu Mine1ORCID,Wörheide Maria A.4ORCID,Oerton Erin1ORCID,Cook James1ORCID,Stewart Isobel D.1,Kerrison Nicola D.1,Luan Jian’an1ORCID,Raffler Johannes45ORCID,Arnold Matthias46ORCID,Arlt Wiebke7ORCID,O’Rahilly Stephen8ORCID,Kastenmüller Gabi49ORCID,Gamazon Eric R.1011ORCID,Hingorani Aroon D.121314ORCID,Scott Robert A.3,Wareham Nicholas J.113ORCID,Langenberg Claudia1213ORCID

Affiliation:

1. MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.

2. Computational Medicine, Berlin Institute of Health at Charité–Universitätsmedizin Berlin, 10117 Berlin, Germany.

3. GlaxoSmithKline, Stevenage SG1 2NY, UK.

4. Institute of Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

5. Institut für Digitale Medizin, Universitätsklinikum Augsburg, 86156 Augsburg, Germany.

6. Department of Psychiatry and Behavioral Sciences, Duke University, Durham, NC 27710, USA.

7. Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, UK.

8. MRC Metabolic Diseases Unit, Wellcome Trust–Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.

9. German Centre for Diabetes Research (DZD), 85764 Neuherberg, Germany.

10. Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37203, USA.

11. Clare Hall, University of Cambridge, Cambridge CB3 9AL, UK.

12. UCL British Heart Foundation Research Accelerator, Institute of Cardiovascular Science, University College London, London WC1E 6BT, UK.

13. Health Data Research UK, Gibbs Building, London NW1 2BE, UK.

14. Institute of Health Informatics, University College London, London NW1 2DA, UK.

Abstract

Detangling gene-disease connections 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 et al . 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

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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