Toggle Main Menu Toggle Search

Open Access padlockePrints

The genetics and functional analysis of primary osteoarthritis susceptibility

Lookup NU author(s): Dr Louise Reynard, Professor John LoughlinORCiD


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Recent genome-wide association scans (GWASs) along with several adequately powered candidate gene studies have yielded a number of risk alleles for osteoarthritis (OA). This number is now sufficiently large to allow conclusions to be drawn regarding the nature of genetic susceptibility, including the fact that the risk alleles have variable effects depending on sex, ethnicity and on the skeletal site of the disease. Several of the alleles that have emerged from the GWASs are within or close to highly plausible candidate genes, including RUNX2 and CHST11. However, the majority of risk alleles do not map to genes previously reported to play a role in musculoskeletal biology, indicating that the GWAS datasets are telling us something new about the OA disease process. Functional studies have so far revealed that effects on gene expression are likely to be one of the main mechanisms through which OA susceptibility is acting. Epigenetic mechanisms such as DNA methylation also influence OA risk, and integration of genetic, transcriptomic and epigenetic data will allow us to use the genetic discoveries for informed development of new OA biological treatments.

Publication metadata

Author(s): Reynard LN, Loughlin J

Publication type: Review

Publication status: Published

Journal: Expert Reviews in Molecular Medicine

Year: 2013

Volume: 15

Pages: e2-e16

Print publication date: 18/02/2013

ISSN (electronic): 1462-3994


DOI: 10.1017/erm.2013.4

PubMed id: 23414786