The COL5A1 gene, ultra-marathon running performance, and range of motion.
ABSTRACT Endurance running performance is a multifactorial phenotype that is strongly associated with running economy. Sit and reach range of motion (SR ROM) is negatively associated with running economy, suggesting that reduced SR ROM is advantageous for endurance running performance. The COL5A1 gene has been associated with both endurance running performance and SR ROM in separate cohorts. The aim of this study was to investigate whether COL5A1 is associated with ultra-marathon running performance and whether this relationship could be partly explained by prerace SR ROM.
Seventy-two runners (52 male, 20 female) were recruited from the 56 km Two Oceans ultra-marathon and were assessed for prerace SR ROM. The cohort was genotyped for the COL5A1 BstUI restriction fragment length polymorphism, and race times were collected after the event.
Participants with a TT genotype (341 ± 41 min, N = 21) completed the 56 km Two Oceans ultra-marathon significantly (P = 0.014) faster than participants with TC and CC genotypes (365 ± 39 min, N = 50). The COL5A1 genotype and age accounted for 19% of performance variance. When the cohort was divided into performance and flexibility quadrants, the T allele was significantly (P = 0.044) over-represented within the fast and inflexible quadrant.
The COL5A1 genotype was found to be significantly associated with performance in a 56 km ultra-endurance run. This study confirms previous findings and it furthers our understanding of the relationships among ROM, COL5A1, and endurance running performance. We continue to speculate that the COL5A1 gene alters muscle-tendon stiffness.
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ABSTRACT: The historical debate on the relative influences of genes (i.e. nature) and environment (i.e. nurture) on human behaviour has been characterised by extreme positions leading to reductionist and polemic conclusions. Our analysis of research on sport and exercise behaviours shows that currently there is little support for either biologically or environmentally deterministic perspectives on elite athletic performance. In sports medicine, recent molecular biological advances in genomic studies have been over-interpreted, leading to a questionable 'single-gene-as-magic-bullet' philosophy adopted by some practitioners. Similarly, although extensive involvement in training and practice is needed at elite levels, it has become apparent that the acquisition of expertise is not merely about amassing a requisite number of practice hours. Although an interactionist perspective has been mooted over the years, a powerful explanatory framework has been lacking. In this article, we propose how the complementary nature of degenerate neurobiological systems might provide the theoretical basis for explaining the interactive influence of genetic and environmental constraints on elite athletic performance. We argue that, due to inherent human degeneracy, there are many different trajectories to achieving elite athletic performance. While the greatest training responses may be theoretically associated with the most favourable genotypes being exposed to highly specialised training environments, this is a rare and complex outcome. The concept of degeneracy provides us with a basis for understanding why each of the major interacting constraints might act in a compensatory manner on the acquisition of elite athletic performance.Sports Medicine 02/2007; 37(11):961-80. · 5.24 Impact Factor
- Medicine and Science in Sports and Exercise - MED SCI SPORT EXERCISE. 01/2009; 41.
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ABSTRACT: 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 alpha 1 type V collagen (COL5A1) gene, which encodes for a tendon protein, is associated with the symptoms of ATP. 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. There was a significant difference in the allele frequencies of the COL5A1 BstUI RFLP between the ATP and CON subjects (P=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=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). 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.Scandinavian Journal of Medicine and Science in Sports 03/2006; 16(1):19-26. · 3.21 Impact Factor