Type V collagen genotype and exercise-related phenotype relationships: A novel hypothesis

Exercise and Sport Sciences Reviews

Volumn 39, Issue 4, 2011, Pages 191-198

  Collins, Malcolm ^a,b,c   Posthumus, Michael ^a,c  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

COL5A1 PROTEIN, HUMAN; COLLAGEN TYPE 5;

3' UNTRANSLATED REGION; ARTICLE; EXERCISE; GENETICS; HUMAN; PHENOTYPE; PHYSIOLOGY; SKELETAL MUSCLE; SPORT INJURY;

3' UNTRANSLATED REGIONS; ATHLETIC INJURIES; COLLAGEN TYPE V; EXERCISE; HUMANS; MUSCLE, SKELETAL; PHENOTYPE;

EID: 80053377367     PISSN: 00916331     EISSN: None     Source Type: Journal    
DOI: 10.1097/JES.0b013e318224e853     Document Type: Article

References (40)

1. Arampatzis A, De Monte G, Karamanidis K, Morey-Klapsing G, Stafilidis S, Brüggemann G-P. Influence of the muscle-tendon unit's mechanical and morphological properties on running economy. J. Exp. Biol. 2006; 209:3345-57. (Pubitemid 44534272)
2. Birk DE, Fitch JM, Babiarz JP, Doane KJ, Linsenmayer TF. Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter. J. Cell Sci. 1990; 95:649-57. (Pubitemid 20141358)
3. Brown J, Miller C-J, Posthumus M, Schwellnus MP, Collins M. The COL5A1 gene, ultra-marathon running performance and range of motion. Int. J. Sports Physiol. Perform. (in press).
4. Brown JC, Miller C-J, Schwellnus MP, Collins M. Range of motion measurements diverge with increasing age for COL5A1 genotypes. Scand. J. Med. Sci. Sports. (in press).
5. Chanut-Delalande H, Fichard A, Bernocco S, Garrone R, Hulmes DJ, Ruggiero F. Control of heterotypic fibril formation by collagen V is determined by chain stoichiometry. J. Biol. Chem. 2001; 276:24352-9.
6. Collins M. Genetic risk factors for soft-tissue injuries 101: a practical summary to help clinicians understand the role of genetics and 'personalised medicine'. Br. J. Sports Med. 2010; 44:915-7.
7. Collins M, Mokone GG, September AV, Van Der Merwe L, Schwellnus MP. The COL5A1 genotype is associated with range of motion measurements. Scand. J. Med. Sci. Sports. 2009; 19:803-10.
8. Collins M, Raleigh SM. Genetic risk factors for musculoskeletal soft tissue injuries. Med. Sport Sci. 2009; 54:136-49.
9. Craib MW, Mitchell VA, Fields KB, Cooper TR, Hopewell R, Morgan DW. The association between flexibility and running economy in subelite male distance runners. Med. Sci. Sports Exerc. 1996; 28:737-43. (Pubitemid 26184084)
10. Dumke CL, Pfaffenroth CM, McBride JM, McCauley GO. Relationship between muscle strength, power and stiffness and running economy in trained male runners. Int. J. Sports Physiol. Perform. 2010; 5:249-61.
11. Ettema GJ. Muscle efficiency: the controversial role of elasticity and mechanical energy conversion in stretch-shortening cycles. Eur. J. Appl. Physiol. 2001; 85:457-65. (Pubitemid 32894564)
12. Fletcher JR, Esau SP, Macintosh BR. Changes in tendon stiffness and running economy in highly trained distance runners. Eur. J. Appl. Physiol. 2010; 110:1037-46.
13. Gleim GW, Stachenfeld NS, Nicholas JA. The influence of flexibility on the economy of walking and jogging. J. Orthop. Res. 1990; 8:814-23. (Pubitemid 20372818)
14. Jones AM. Running economy is negatively related to sit-and-reach test performance in international-standard distance runners. Int. J. Sports Med. 2002; 23:40-3. (Pubitemid 34033021)
15. Kadler KE, Baldock C, Bella J, Boot-Handford RP. Collagens at a glance. J. Cell Sci. 2007; 120:1955-8. (Pubitemid 47009991)
16. Kongsgaard M, Qvortrup K, Larsen J, et al. Fibril morphology and tendon mechanical properties in patellar tendinopathy: effects of heavy slow resistance training. Am. J. Sports Med. 2010; 38:749-56.
17. Kubo K, Kawakami Y, Fukunaga T. Influence of elastic properties of tendon structures on jump performance in humans. J. Appl. Physiol. 1999; 87:2090-6.
18. Laguette M-J, Abrahams Y, Prince S, Collins M. Sequence variants within the 3'-UTR of the COL5A1 gene alters mRNA stability: implications for musculoskeletal soft tissue injuries. Matrix Biol. 2011; 30:338-345.
19. Lavagnino M, Arnoczky SPSP, Frank K, Tian T. Collagen fibril diameter distribution does not reflect changes in the mechanical properties of in vitro stress-deprived tendons. J. Biomech. 2005; 38:69-75. (Pubitemid 39424980)
20. Maganaris CN, Narici MV, Maffulli N. Biomechanics of the Achilles tendon. Disabil. Rehabil. 2008; 269:1542-7.
21. Magnusson SP, Qvortrup K, Larsen JO, et al. Collagen fibril size and crimp morphology in ruptured and intact Achilles tendons. Matrix Biol. 2002; 30:369-77. (Pubitemid 34786473)
22. Magnusson SP, Simonsen EB, Aagaard P, Boesen J, Johannsen F, Kjaer M. Determinants of musculoskeletal flexibility: viscoelastic properties, cross-sectional area, EMG and stretch tolerance. Scand. J. Med. Sci. Sports. 1997; 7:195-202. (Pubitemid 127524119)
23. Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010; 12:597-605.
24. Mazumder B, Seshadri V, Fox PL. Translational control by the 3′-UTR: the ends specify the means. Trends Biochem, Sci. 2003; 28:91-8. (Pubitemid 36165138)
25. Mokone GG, Schwellnus MP, Noakes TD, Collins M. The COL5A1 gene and Achilles tendon pathology. Scand. J. Med. Sci. Sports. 2006; 16: 19-26. (Pubitemid 43433301)
26. Nakagawa Y, Totsuka M, Sato T, Fukuda Y, Hirota K. Effect of disuse on the ultrastructure of the achilles tendon in rats. Eur. J. Appl. Physiol. Occup. Physiol. 1989; 59:239-42. (Pubitemid 19233443)
27. O'Connell K, Posthumus M, Collins M. COL6A1 gene and Ironman triathlon performance. Int. J. Sports Med. (in press).
28. Ottani V, Raspanti M, Ruggeri A. Collagen structure and functional implications. Micron. 2001; 32:251-60.
29. Parry DA, Barnes GR, Craig AS. A comparison of the size distribution of collagen fibrils in connective tissues as a function of age and a possible relation between fibril size distribution and mechanical properties. Proc. R. Soc. Lond., B, Biol. Sci. 1978; 203:305-21. (Pubitemid 9092950)
30. Posthumus M, Schwellnus MP, Collins M. The COL5A1 gene: a novel marker of endurance running performance. Med. Sci. Sports Exerc. 2011; 43:584-9.
31. Posthumus M, September AV, O'cuinneagain D, van der Merwe W, Schwellnus MP, Collins M. The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. Am J Sports Med. 2009; 37:2234-40.
32. Posthumus M, September AV, Schwellnus MP, Collins M. The COL5A1 gene and musculoskeletal soft-tissue injuries. South Afr. J. Sports Med. 2010; 22:38-41.
33. September AV, Cook J, Handley CJ, Van Der Merwe L, Schwellnus MP, Collins M. Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. Br. J. Sports Med. 2009; 43: 357-65.
34. September AV, Schwellnus MP, Collins M. Tendon and ligament injuries: the genetic component. Br. J. Sports Med. 2007; 41:241-6. (Pubitemid 350143335)
35. Shimomura T, Jia F, Niyibizi C, Woo SL-. Antisense oligonucleotides reduce synthesis of procollagen alpha1 (V) chain in human patellar tendon fibroblasts: potential application in healing ligaments and tendons. Connect Tissue Res. 2003; 44:167-72. (Pubitemid 37304549)
36. Silver FH, Freeman JW, Seehra GP. Collagen self-assembly and the development of tendon mechanical properties. J. Biomech. 2003; 36: 1529-53. (Pubitemid 37117360)
37. Vitart V, Benci? G, Hayward C, et al. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum. Mol. Genet. 2010; 19:4304-11.
38. Vogel A, Holbrook KA, Steinmann B, Gitzelmann R, Byers PH. Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab. Invest. 1979; 40:201-6. (Pubitemid 9126918)
39. Wenstrup RJ, Florer JB, Brunskill EW, Bell SM, Chervoneva I, Birk DE. Type V collagen controls the initiation of collagen fibril assembly. J. Biol. Chem. 2004; 279:53331-7. (Pubitemid 40051838)
40. Wenstrup RJ, Florer JB, Davidson JM, et al. Murine model of the Ehlers- Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. J. Biol. Chem. 2006; 281:12888-95. (Pubitemid 43855382)