A molecular quantitative trait locus map for osteoarthritis.
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Date
2021-02-26Author
Steinberg, J
Southam, L
Roumeliotis, TI
Clark, MJ
Jayasuriya, RL
Swift, D
Shah, KM
Butterfield, NC
Brooks, RA
McCaskie, AW
Bassett, JHD
Williams, GR
Choudhary, JS
Wilkinson, JM
Zeggini, E
Type
Journal Article
Metadata
Show full item recordAbstract
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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Subject
Humans
Osteoarthritis
Genetic Predisposition to Disease
Transcription Factors
Gene Expression Profiling
Gene Expression Regulation
Phenotype
Quantitative Trait Loci
Genome-Wide Association Study
Transcriptome
Language
eng
Date accepted
2021-02-03
License start date
2021-02-26
Citation
Nature communications, 2021, 12 (1), pp. 1309 - ?
Publisher
NATURE PORTFOLIO