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Med Sci Sports Exerc. 2011 Apr;43(4):584-9. doi: 10.1249/MSS.0b013e3181f34f4d.

The COL5A1 gene: a novel marker of endurance running performance.

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UCT/MRC Research Unit for Exercise Science and Sports Medicine of the Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.



Running economy, a key component of endurance ability, has been shown to be associated with flexibility. Increased stiffness (inflexibility) may improve running economy and therefore endurance running ability. The COL5A1 gene, which encodes the α1-chain of type V collagen, was found to associate with measures of flexibility. Type V collagen is a quantitatively minor fibrillar collagen, which is believed to regulate fibrillogenesis within tendons and other connective tissue.


The aim of this study was therefore to determine whether the COL5A1 gene is associated with endurance performance.


Three hundred thirteen Caucasian male participants who completed either the 2006 or the 2007 226-km South African Ironman triathlon (3.8-km swim, 180-km bike, and 42.2-km run) participated in this study. All participants were genotyped for the COL5A1 BstUI restriction fragment length polymorphism (RFLP).


The COL5A1 BstUI RFLP was significantly associated with time to complete the running component of the triathlon. Participants with a TT genotype completed the running component of the race significantly faster than individuals with a CC genotype (P = 0.019; mean ± SD: TT = 294.2 ± 52.1 min, CC = 307.4 ± 48.6 min). In addition, there was a significant linear trend (P = 0.020) in the CC genotype distribution when the run times were divided into the fastest (13%), middle (17%), and slowest (25%) tertiles. There were no significant genotype differences for time to complete the swim, the bike, or the overall race. COL5A1 BstUI RFLP, body mass index, age, and 15 wk of running training history predicted 30% of the variance in running performance.


This is the first study to identify the COL5A1 BstUI RFLP as a marker for endurance running performance. Further studies are required to replicate these findings.

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