COL6A1 Gene and Ironman Triathlon Performance

Abstract

Mutations in the type VI collagen gene (COL6A1) cause myopathy and muscle weakness. In addition, COL6A1 knockout mice were shown to have impaired running performance and reduced muscle strength. The COL6A1 rs35796750 polymorphism (IVS32-29 T/C) has been associated with complex phenotypes. The aim of this study was therefore to determine if this polymorphism is associated with performance during the 226 km Ironman triathlon. Participants (n=661) were recruited during 4 South African Ironman triathlons. Finishing times for the 3.8 km swim, 180 km bike, 42.2 km run, and overall race were provided by the race organisers. All participants were genotyped for the COL6A1 rs35796750 polymorphism. Participants with the COL6A1 TT genotype were significantly faster during the bike (p=0.014) and overall race (p=0.030). When participants were grouped into fast, middle and slow bike finishing time tertiles, there was a significant linear trend for the TT genotype (Fast: TT=35.7%; Middle: TT=29.0%; Slow: TT=23.8%; p=0.008). No significant genotype frequency differences were observed for the swim or run of the triathlon. In conclusion, the COL6A1 gene is therefore a potential marker for endurance cycling performance. These effects may be mediated through changes to the composition of type VI collagen containing tissues, such as muscle and tendon.

Key words

type VI collagen - cycling - connective tissue - muscle - tendon

References

• 1 Bertini E, Pepe G. Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.  Eur J Paediatr Neurol. 2002;  6 193-198
• 2 Bonaldo P, Braghetta P, Zanetti M, Piccolo S, Volpin D, Bressan GM. Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.  Hum Mol Genet. 1998;  7 2135-2140
• 3 Bray MS, Hagberg JM, Perusse L, Rankinen T, Roth SM, Wolfarth B, Bouchard C. The human gene map for performance and health-related fitness phenotypes: the 2006–2007 update.  Med Sci Sports Exerc. 2009;  41 35-73
• 4 Collins M, Xenophontos SL, Cariolou MA, Mokone GG, Hudson DE, Anastasiades L, Noakes TD. The ACE gene and endurance performance during the South African Ironman Triathlons.  Med Sci Sports Exerc. 2004;  36 1314-1320
• 5 de Milander L, Stein DJ, Collins M. The interleukin-6, serotonin transporter, and monoamine oxidase A genes and endurance performance during the South African Ironman Triathlon.  Appl Physiol Nutr Metab. 2009;  34 858-865
• 6 Fung DT, Wang VM, Andarawis-Puri N, Basta-Pljakic J, Li Y, Laudier DM, Sun HB, Jepsen KJ, Schaffler MB, Flatow EL. Early response to tendon fatigue damage accumulation in a novel in vivo model.  J Biomech. 2010;  43 274-279
• 7 Harriss DJ, Atkinson G. Update – Ethical Standards in Sport and Exercise Science Research.  Int J Sports Med. 2011;  32 819-821
• 8 Hopkins WG. A New View of Statistics.  2006;  http://www.sportsci.org (accessed 1 November 2010)
• 9 Hudson DE, Mokone GG, Noakes TD, Collins M. The -55 C/T polymorphism within the UCP3 gene and performance during the South African Ironman Triathlon.  Int J Sports Med. 2004;  25 427-432
• 10 Izu Y, Ansorge HL, Zhang G, Soslowsky LJ, Bonaldo P, Chu ML, Birk DE. Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice.  Matrix Biol. 2010;  30 53-61
• 11 Kanagawa M, Toda T. The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis.  J Hum Genet. 2006;  51 915-926
• 12 Kastelic J, Galeski A, Baer E. The multicomposite structure of tendon.  Connect Tissue Res. 1978;  6 11-23
• 13 Kjaer M. Role of extracellular matrix in adaptation of tendon and skeletal muscle to mechanical loading.  Physiol Rev. 2004;  84 649-698
• 14 Kong Q, Ma X, Li F, Guo Z, Qi Q, Li W, Yuan H, Wang Z, Chen Z. COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament.  Spine (Phila Pa 1976). 2007;  32 2834-2838
• 15 Kubo K, Tabata T, Ikebukuro T, Igarashi K, Yata H, Tsunoda N. Effects of mechanical properties of muscle and tendon on performance in long distance runners.  Eur J Appl Physiol. 2010;  110 507-514
• 16 Lahiri DK, Nurnberger Jr JI. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies.  Nucleic Acids Res. 1991;  19 5554
• 17 Lampe AK, Bushby KM. Collagen VI related muscle disorders.  J Med Genet. 2005;  42 673-685
• 18 Lampe AK, Bushby KM. Collagen VI related muscle disorders.  J Med Genet. 2005;  42 673-685
• 19 Macarthur DG, North KN. Genes and human elite athletic performance.  Hum Genet. 2005;  116 331-339
• 20 Mokone GG, Schwellnus MP, Noakes TD, Collins M. The COL5A1 gene and Achilles tendon pathology.  Scand J Med Sci Sports. 2006;  16 19-26
• 21 Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.  Neurology. 2007;  69 1035-1042
• 22 Posthumus M, Schwellnus MP, Collins M. The COL5A1 gene: a novel marker of endurance running performance.  Med Sci Sports Exerc. 2011;  43 584-589
• 23 Reed UC, Ferreira LG, Liu EC, Resende MB, Carvalho MS, Marie SK, Scaff M. Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.  Arq Neuropsiquiatr. 2005;  63 785-790
• 24 Saunders CJ, September AV, Xenophontos SL, Cariolou MA, Anastassiades LC, Noakes TD, Collins M. No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons.  Ann Hum Genet. 2007;  71 777-781
• 25 Saunders CJ, Xenophontos SL, Cariolou MA, Anastassiades LC, Noakes TD, Collins M. The bradykinin beta 2 receptor (BDKRB2) and endothelial nitric oxide synthase 3 (NOS3) genes and endurance performance during Ironman Triathlons.  Hum Mol Genet. 2006;  15 979-987
• 26 Schessl J, Zou Y, Bonnemann CG. Congenital muscular dystrophies and the extracellular matrix.  Semin Pediatr Neurol. 2006;  13 80-89
• 27 Stafilidis S, Arampatzis A. Muscle-tendon unit mechanical and morphological properties and sprint performance.  J Sports Sci. 2007;  25 1035-1046
• 28 Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, Yoshida K, Ikeda T, Ikegawa S, Hunt SC, Takeda J, Toh S, Harata S, Nakajima T, Inoue I. Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.  Am J Hum Genet. 2003;  73 812-822
• 29 Tsukahara S, Miyazawa N, Akagawa H, Forejtova S, Pavelka K, Tanaka T, Toh S, Tajima A, Akiyama I, Inoue I. COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese.  Spine (Phila Pa 1976). 2005;  30 2321-2324
• 30 van der Rest M, Garrone R. Collagen family of proteins.  FASEB J. 1991;  5 2814-2823
• 31 Walpole B, Noakes TD, Collins M. Growth hormone 1 (GH1) gene and performance and post-race rectal temperature during the South African Ironman triathlon.  Br J Sports Med. 2006;  40 145-150

Correspondence