Purpose: There is an increase in the incidence of Achilles tendon injuries as a result of the participation in physical activity. It has been suggested that some individuals have a genetic predisposition to Achilles tendon pathology (ATP). The aim of this study was to determine whether the a 1 type V collagen (COL5A1) gene, which encodes for a tendon protein, is associated with the symptoms of ATP. Methods: One-hundred and eleven Caucasian subjects diagnosed with ATP and 129 Caucasian control (CON) subjects were genotyped for the BstUI and DpnII restriction fragment length polymorphisms (RFLPs) within the COL5A1 gene.Results: There was a significant difference in the allele frequencies of the COL5A1 BstUI RFLP between the ATP and CON subjects (P 5 0.006). The frequency of the A2 allele was significantly higher in the CON group (29.8%) than in the ATP group (18.0%) (odds ratio of 1.9; 95% confidence interval (CI) 1.3-3.0; P 5 0.004). This allele had a stronger protective role when only the 72 patients diagnosed with chronic Achilles tendinopathy were analyzed (odds ratio of 2.6; 95% CI 1.5-4.5). Conclusions: The COL5A1 BstUI RFLP is associated with ATP and more specifically, chronic Achilles tendinopathy. Individuals with an A2 allele of this gene are less likely of developing symptoms of chronic Achilles tendinopathy.
This is the first study to show that there is a specific genetic risk factor associated with risk of anterior cruciate ligament ruptures in female athletes.
Elite sporting performance results from the combination of innumerable factors, which interact with one another in a poorly understood but complex manner to mould a talented athlete into a champion. Within the fi eld of sports science, elite performance is understood to be the result of both training and genetic factors. However, the extent to which champions are born or made is a question that remains one of considerable interest, since it has implications for talent identifi cation and management, as well as for how sporting federations allocate scarce resources towards the optimisation of high-performance programmes. The present review describes the contributions made by deliberate practice and genetic factors to the attainment of a high level of sporting performance. The authors conclude that although deliberate training and other environmental factors are critical for elite performance, they cannot by themselves produce an elite athlete. Rather, individual performance thresholds are determined by our genetic make-up, and training can be defi ned as the process by which genetic potential is realised. Although the specifi c details are currently unknown, the current scientifi c literature clearly indicates that both nurture and nature are involved in determining elite athletic performance. In conclusion, elite sporting performance is the result of the interaction between genetic and training factors, with the result that both talent identifi cation and management systems to facilitate optimal training are crucial to sporting success.
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