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A molecular quantitative trait locus map for osteoarthritis

Author

Listed:
  • Julia Steinberg

    (Helmholtz Zentrum München – German Research Center for Environmental Health
    Cancer Council NSW
    Wellcome Sanger Institute
    The University of Sydney)

  • Lorraine Southam

    (Helmholtz Zentrum München – German Research Center for Environmental Health
    Wellcome Sanger Institute)

  • Theodoros I. Roumeliotis

    (Wellcome Sanger Institute
    The Institute of Cancer Research)

  • Matthew J. Clark

    (University of Sheffield)

  • Raveen L. Jayasuriya

    (University of Sheffield)

  • Diane Swift

    (University of Sheffield)

  • Karan M. Shah

    (University of Sheffield)

  • Natalie C. Butterfield

    (Imperial College London)

  • Roger A. Brooks

    (University of Cambridge)

  • Andrew W. McCaskie

    (University of Cambridge)

  • J. H. Duncan Bassett

    (Imperial College London)

  • Graham R. Williams

    (Imperial College London)

  • Jyoti S. Choudhary

    (Wellcome Sanger Institute
    The Institute of Cancer Research)

  • J. Mark Wilkinson

    (University of Sheffield
    University of Sheffield)

  • Eleftheria Zeggini

    (Helmholtz Zentrum München – German Research Center for Environmental Health
    Wellcome Sanger Institute
    TUM School of Medicine, Technical University of Munich and Klinikum Rechts der Isar)

Abstract

Osteoarthritis causes pain and functional disability for over 500 million people worldwide. To develop disease-stratifying tools and modifying therapies, we need a better understanding of the molecular basis of the disease in relevant tissue and cell types. Here, we study primary cartilage and synovium from 115 patients with osteoarthritis to construct a deep molecular signature map of the disease. By integrating genetics with transcriptomics and proteomics, we discover molecular trait loci in each tissue type and omics level, identify likely effector genes for osteoarthritis-associated genetic signals and highlight high-value targets for drug development and repurposing. These findings provide insights into disease aetiopathology, and offer translational opportunities in response to the global clinical challenge of osteoarthritis.

Suggested Citation

  • Julia Steinberg & Lorraine Southam & Theodoros I. Roumeliotis & Matthew J. Clark & Raveen L. Jayasuriya & Diane Swift & Karan M. Shah & Natalie C. Butterfield & Roger A. Brooks & Andrew W. McCaskie & , 2021. "A molecular quantitative trait locus map for osteoarthritis," Nature Communications, Nature, vol. 12(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-21593-7
    DOI: 10.1038/s41467-021-21593-7
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    Cited by:

    1. Ozvan Bocher & Cristen J. Willer & Eleftheria Zeggini, 2023. "Unravelling the genetic architecture of human complex traits through whole genome sequencing," Nature Communications, Nature, vol. 14(1), pages 1-4, December.
    2. Feng Jiang & Shou-Ye Hu & Wen Tian & Nai-Ning Wang & Ning Yang & Shan-Shan Dong & Hui-Miao Song & Da-Jin Zhang & Hui-Wu Gao & Chen Wang & Hao Wu & Chang-Yi He & Dong-Li Zhu & Xiao-Feng Chen & Yan Guo , 2024. "A landscape of gene expression regulation for synovium in arthritis," Nature Communications, Nature, vol. 15(1), pages 1-16, December.

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