British Journal of Sports Medicine 2009;43:314-316
EDITORIALS
Genetic association studies for complex traits: relevance for the sports medicine practitioner
William T Gibson, Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4; wgibson@cw.bc.ca
Accepted 12 August 2008
| The first 150 words of the full text of this article appear below. |
In this issue of BJSM, September et al1 report DNA variants within the COL5A1 gene among patients with Achilles tendinopathy (the cases) and among controls with no tendinopathy, matched for age and country of origin. Their findings suggest that a common DNA variation in the COL5A1 gene may be a risk factor for Achilles tendinopathy. Replication of their results among larger cohorts will be necessary to validate this finding.
It can be a challenge for the busy sports medicine practitioner to distil the clinical relevance of association studies such as this one. Although genetic testing for mendelian (single-gene) disorders is widely available in many countries, genetic testing for single-nucleotide polymorphisms (SNPs) is generally unavailable outside research laboratories. With certain notable exceptions (eg, the link between apoE variants, cardiovascular and neurological disease),2-4 statistical associations between common SNPs and complex diseases have not been borne out by further study. Numerous
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