A molecular quantitative trait locus map for osteoarthritis

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, J. H. Duncan Bassett, Graham R. Williams, Jyoti S. Choudhary, J. Mark Wilkinson () and Eleftheria Zeggini ()
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Julia Steinberg: Helmholtz Zentrum München – German Research Center for Environmental Health
Lorraine Southam: Helmholtz Zentrum München – German Research Center for Environmental Health
Theodoros I. Roumeliotis: Wellcome Sanger Institute
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
J. Mark Wilkinson: University of Sheffield
Eleftheria Zeggini: Helmholtz Zentrum München – German Research Center for Environmental Health

Nature Communications, 2021, vol. 12, issue 1, 1-11

Abstract: 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.

Date: 2021
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-21593-7

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DOI: 10.1038/s41467-021-21593-7

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