The COL5A1 gene, ultra-marathon running performance, and range of motion.

Department of Human Biology, University of Cape Town, Cape Town, South Africa.
International journal of sports physiology and performance (Impact Factor: 2.68). 07/2011; 6(4):485-96.
Source: PubMed

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 purpose of this study was to exam the association of body composition, flexibility, and injury risk to genetic polymorphisms including ACE ID, ACTN3 RX, and COL5A1 polymorphisms in ballet dancers in Korea. For the purpose of this study, elite ballerinas (n = 97) and normal female adults (n = 203) aged 18 to 39 were recruited and these participants were tested for body weight, height, body fat, fat free mass, flexibility, injury risks on the joints and gene polymorphisms (ACE, ACTN3, COL5A1 polymorphism). As results, the ACE DD genotype in ballerinas was associated with higher body fat and percentage of body fat than the ACE II and ID genotypes (p < 0.05). In the study on the ACTN3 polymorphism and ballerinas, the XX genotype in ballerinas had lower body weight and lower fat-free mass than the RR and RX genotype (p < 0.005). Also, the means of sit and reach test for flexibility was lower in the ACTN3 XX genotype of ballerinas than the RR and RX genotype of ballerinas (p < 0.05). Among the sports injuries, the ankle injury of the XX-genotyped ballerinas was in significantly more prevalence than the RR and XX-genotyped ballerinas (p < 0.05). According to the odd ratio analysis, XX-genotyped ballerinas have the injury risk on the ankle about 4.7 (95% CI: 1.6~13.4, p < 0.05) times more than the RR and RX-genotyped ballerinas. Meanwhile, the COL5A1 polymorphism in ballerinas has no association with any factors including flexibility and injury risks. In conclusion, ACE polymorphism and ACTN3 polymorphism were associated with ballerinas' performance capacity; COL5A1 was not associated with any factors of performance of Ballerinas. The results suggested that the ACE DD genotype is associated with high body fat, the ACTN3 XX genotype is associated with low fat-free mass, low flexibility, and higher risk of ankle-joint injury.
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    ABSTRACT: The COL5A1 rs12722 polymorphism is considered to be a novel genetic marker for endurance running performance. It has been postulated that COL5A1 rs12722 may influence the elasticity of tendons and the energetic cost of running. To date, there are no experimental data in the literature supporting the relationship between range of motion, running economy, and the COL5A1 rs12722 gene polymorphism. Therefore, the main purpose of the current study was to analyze the influence of the COL5A1rs12722 polymorphism on running economy and range of motion. One hundred and fifty (n = 150) physically active young men performed the following tests: a) a maximal incremental treadmill test, b) two constant-speed running tests (10 km•h-1 and 12 km•h-1) to determine the running economy, and c) a sit-and-reach test to determine the range of motion. All of the subjects were genotyped for the COL5A1 rs12722 single-nucleotide polymorphism. The genotype frequencies were TT = 27.9%, CT = 55.8%, and CC = 16.3%. There were no significant differences between COL5A1 genotypes for running economy measured at 10 km•h-1 (p = 0.232) and 12 km•h-1 (p = 0.259). Similarly, there were no significant differences between COL5A1 genotypes for range of motion (p = 0.337). These findings suggest that the previous relationship reported between COL5A1 rs12722 genotypes and running endurance performance might not be mediated by the energetic cost of running.
    PLoS ONE 09/2014; 9(9):e106581. DOI:10.1371/journal.pone.0106581 · 3.53 Impact Factor
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    ABSTRACT: Understanding the genetic architecture of athletic performance is an important step in the development of methods for talent identification in sport. Research concerned with molecular predictors has highlighted a number of potentially important DNA polymorphisms contributing to predisposition to success in certain types of sport. This review summarizes the evidence and mechanistic insights on the associations between DNA polymorphisms and athletic performance. A literature search (period: 1997-2014) revealed that at least 120 genetic markers are linked to elite athlete status (77 endurance-related genetic markers and 43 power/strength-related genetic markers). Notably, 11 (9%) of these genetic markers (endurance markers: ACE I, ACTN3 577X, PPARA rs4253778 G, PPARGC1A Gly482; power/strength markers: ACE D, ACTN3 Arg577, AMPD1 Gln12, HIF1A 582Ser, MTHFR rs1801131 C, NOS3 rs2070744 T, PPARG 12Ala) have shown positive associations with athlete status in three or more studies and six markers (CREM rs1531550 A, DMD rs939787 T, GALNT13 rs10196189 G, NFIA-AS1 rs1572312 C, RBFOX1 rs7191721 G, TSHR rs7144481 C) were identified after performing genome-wide association studies (GWAS) of African-American, Jamaican, Japanese and Russian athletes. On the other hand, the significance of 29 (24%) markers was not replicated in at least one study. Future research including multicenter GWAS, whole-genome sequencing, epigenetic, transcriptomic, proteomic and metabolomic profiling and performing meta-analyses in large cohorts of athletes is needed before these findings can be extended to practice in sport.
    Advances in clinical chemistry 01/2015; DOI:10.1016/bs.acc.2015.03.003 · 4.30 Impact Factor


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