Steinberg, J. ; Southam, L. ; Roumeliotis, T.I.* ; Clark, M.J.* ; Jayasuriya, R.L.* ; Swift, D.* ; Shah, K.M.* ; Butterfield, N.C.* ; Brooks, R.A.* ; McCaskie, A.W.* ; Bassett, J.H.D.* ; Williams, G.R.* ; Choudhary, J.S.* ; Wilkinson, J.M.* ; Zeggini, E.
A molecular quantitative trait locus map for osteoarthritis.
Nat. Commun. 12:1309 (2021)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
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Keywords plus
Language
english
Publication Year
2021
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HGF-reported in Year
2021
ISSN (print) / ISBN
2041-1723
e-ISSN
2041-1723
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Volume: 12,
Issue: 1,
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Article Number: 1309
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Nature Publishing Group
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London
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Peer reviewed
Institute(s)
Institute of Translational Genomics (ITG)
POF-Topic(s)
30205 - Bioengineering and Digital Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-506700-001
Grants
Department of Health
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Erfassungsdatum
2021-04-28