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Genetic studies in osteoporosis – the end of the beginning

Emma L Duncan1* and Matthew A Brown12

Author Affiliations

1 The University of Queensland, Diamantina Institute for Cancer Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba Qld 4102, Australia

2 University of Oxford Institute of Musculoskeletal Sciences, Botnar Research Centre, University of Oxford, Headington, OX3 7LD, UK

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Arthritis Research & Therapy 2008, 10:214  doi:10.1186/ar2479

Published: 12 September 2008


Osteoporosis and disorders of bone fragility are highly heritable, but despite much effort the identities of few of the genes involved has been established. Recent developments in genetics such as genome-wide association studies are revolutionizing research in this field, and it is likely that further contributions will be made through application of next-generation sequencing technologies, analysis of copy number variation polymorphisms, and high-throughput mouse mutagenesis programs. This article outlines what we know about osteoporosis genetics to date and the probable future directions of research in this field.