Genome-wide association studies and musculoskeletal diseases

Danoy, P. & Brown, Matthew A. (2008) Genome-wide association studies and musculoskeletal diseases. Future Rheumatology, 3(6), pp. 537-542.

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Bone and joint diseases are major causes of morbidity and mortality worldwide, and their prevalence is increasing as the average population age increases. Most common musculoskeletal diseases show significant heritability, and few have treatments that prevent disease or can induce true treatment-free, disease-free remission. Furthermore, despite valiant efforts of hypothesis-driven research, our understanding of the etiopathogenesis of these conditions is, with few exceptions, at best moderate. Therefore, there has been a long-standing interest in genetics research in musculoskeletal disease as a hypothesis-free method for investigating disease etiopathogenesis. Important contributions have been made through the identification of monogenic causes of disease, but the holy grail of human genetics research has been the identification of the genes responsible for common diseases. The development of genome-wide association (GWA) studies has revolutionized this field, and led to an explosion in the number of genes identified that are definitely involved in musculoskeletal disease pathogenesis. However, this approach will not identify all common disease genes, and although the current progress is exciting and proves the potential of this research discipline, other approaches will be required to identify many of the types of genetic variation likely to be involved.

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ID Code: 89420
Item Type: Journal Article
Refereed: Yes
Keywords: Ankylosing spondylitis, Autoimmunity, GWA studies, Musculoskeletal, Osteoporosis, Rheumatoid arthritis, Rheumatology, HLA DR antigen, interleukin 2 receptor, interleukin 23 receptor, low density lipoprotein receptor related protein 5, major histocompatibility antigen, osteoclast differentiation factor, tumor necrosis factor, article, bone density, fracture, gene expression, genetic association, genetic identification, genetic susceptibility, human, musculoskeletal disease, pathogenesis, priority journal, single nucleotide polymorphism
DOI: 10.2217/17460816.3.6.537
ISSN: 1746-0816
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2008 Future Medicine
Deposited On: 22 Oct 2015 23:30
Last Modified: 22 Aug 2016 02:58

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