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Genetic indicators and susceptibility to osteoarthritis

Lookup NU author(s): Professor John LoughlinORCiD


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A large number of experiments have been performed to identify genetic loci that influence osteoarthritis (OA) susceptibility, with a particular focus on the primary form of the disease. Unfortunately, the currently reported candidate-gene, genome-wide linkage scans and genome-wide association scans have tended to highlight the heterogeneous nature of OA rather than generate statistically compelling genome signals. Nevertheless, some breakthroughs have been made. For example, genetic susceptibility within genes coding for components of the transforming growth factor beta pathway has emerged as a particularly interesting find, while completely novel loci are also being uncovered, such as the signal to a cluster of genes on chromosome 7q22. It also appears that quantitative effects on gene expression, rather than qualitative effects on protein function, are particularly important, and that we need to consider the effects of genetic susceptibility in joint formation as much as we do in joint maintenance. Nevertheless, we are still only at the beginning of our search, and much more sophisticated clinical and laboratory approaches will need to be applied before we get a clear understanding of the genetic indicators that influence OA susceptibility.

Publication metadata

Author(s): Loughlin J

Publication type: Article

Publication status: Published

Journal: British Journal of Sports Medicine

Year: 2011

Volume: 45

Issue: 4

Pages: 278-282

Print publication date: 01/04/2011

ISSN (print): 0306-3674

ISSN (electronic): 1473-0480

Publisher: BMJ Group


DOI: 10.1136/bjsm.2010.081059


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