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Osteoarthritis year in review 2019: genetics, genomics and epigenetics

Lookup NU author(s): Dr Louise Reynard, Dr Matthew Barter



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


Although osteoarthritis (OA) aetiology is complex, genetic, genomic and epigenetic studies published within the last decade have advanced our understanding of the molecular processes underlying this common musculoskeletal disease. The purpose of this narrative review is to highlight the key research articles within the OA genetics, genomics and epigenetics fields that were published between April 2018 and April 2019. The review focuses on the identification of new OA genetic risk loci, genomics techniques that have been used for the first time in human cartilage and new publicly available databases, and datasets that will aid OA functional studies.Fifty-six new OA susceptibility loci were identified by two large scale genome wide association study meta-analyses, increasing the number of genome-wide significant risk loci to 90. OA risk variants are enriched near genes involved in skeletal development and morphology, and show genetic overlap with height, hip shape, bone area and developmental dysplasia of the hip. Several functional studies of OA loci were published, including a genome-wide analysis of genetic variation on cartilage gene expression. A specialised data portal for exploring cross-species skeletal transcriptomic datasets has been developed, and the first use of cartilage single cell RNAseq analysis reported. This year also saw the systematic identification of all microRNAs, long non-coding RNAs and circular RNAs expressed in human OA cartilage. Putative transcriptional regulatory regions have been mapped in human chondrocytes genome-wide, providing a dataset that will facilitate the prioritisation and characterisation of OA genetic and epigenetic loci.

Publication metadata

Author(s): Reynard LN, Barter MJ

Publication type: Article

Publication status: Published

Journal: Osteoarthritis and Cartilage

Year: 2019

Volume: 28

Issue: 3

Pages: 275-284

Print publication date: 01/01/2020

Online publication date: 23/12/2019

Acceptance date: 05/11/2019

Date deposited: 20/01/2020

ISSN (print): 1063-4584

ISSN (electronic): 1522-9653

Publisher: Elsevier


DOI: 10.1016/j.joca.2019.11.010


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Funder referenceFunder name
JXR 10641
R476/0516Dunhill Medical Trust