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A molecular quantitative trait locus map for osteoarthritis.

Published version
Peer-reviewed

Type

Article

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Authors

Southam, Lorraine 
Roumeliotis, Theodoros I 
Jayasuriya, Raveen L 

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.

Description

Keywords

Gene Expression Profiling, Gene Expression Regulation, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Osteoarthritis, Phenotype, Quantitative Trait Loci, Transcription Factors, Transcriptome

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

12

Publisher

Springer Science and Business Media LLC
Sponsorship
ARTHRITIS RESEARCH UK (21156)
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)