1,536
Views
0
CrossRef citations to date
0
Altmetric
PHYSIOLOGY & NUTRITION

Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent associations with elite status in rugby

ORCID Icon, , , , , , , , , ORCID Icon, , , & show all

References

  • Abrahams, Y., Laguette, M. J., Prince, S., & Collins, M. (2013). Polymorphisms within the COL5A1 3′-UTR that alters mRNA structure and the MIR608 gene are associated with Achilles tendinopathy. Annals of Human Genetics, 77, 204–214. doi:10.1111/ahg.12013
  • Banos, C. C., Thomas, A. H., & Kuo, C. K. (2008). Collagen fibrillogenesis in tendon development: Current models and regulation of fibril assembly. Birth Defects Res C Embryo Today: Reviews, 84, 228–244. doi:10.1002/bdrc.20130
  • Brazier, J., Antrobus, M., Stebbings, G. K., Day, S. H., Callus, P., Erskine, R. M., … Williams, A. G. (2019). Tendon and ligament injuries in elite rugby: The potential genetic influence. Sports (Basel, Switzerland), 7, 138. doi:10.3390/sports7060138.
  • Brazier, J., Antrobus, M., Stebbings, G. K., Day, S. H., Callus, P., Erskine, R. M., … Williams, A. G. (2020). Anthropometric and physiological characteristics of elite male rugby athletes. Journal of Strength and Conditioning Research, 34, 1790–1801. doi:10.1519/JSC.0000000000002827
  • Brooks, J. H. M., & Kemp, S. P. T. (2008). Recent trends in rugby union injuries. Clinics in Sports Medicine, 27, 51. doi:10.1016/j.csm.2007.09.001
  • Brown, K. L., Seale, K. B., El Khoury, L. Y., Posthumus, M., Ribbans, W. J., Raleigh, S. M., … September, A. V. (2017). Polymorphisms within the COL5A1 gene and regulators of the extracellular matrix modify the risk of Achilles tendon pathology in a British case-control study. Journal of Sports Sciences, 2017/08/03 35, 1475–1483. doi:10.1080/02640414.2016.1221524
  • Cahill, N., Lamb, K., Worsfold, P., Headey, R., & Murray, S. (2013). The movement characteristics of English Premiership rugby union players. Journal of Sports Sciences, 31, 229–237. doi:10.1080/02640414.2012.727456
  • Dalton, S., Cawston, T. E., Riley, G. P., Bayley, I. J., & Hazleman, B. L. (1995). Human shoulder tendon biopsy samples in organ culture produce procollagenase and tissue inhibitor of metalloproteinases. Annals of the Rheumatic Diseases, 54, 571–577. doi:10.1136/ard.54.7.571
  • El Khoury, L., Posthumus, M., Collins, M., Handley, C. J., Cook, J., & Raleigh, S. M. (2013). Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: A genetic association study. Journal of Science and Medicine in Sport, 16, 493–498. doi:10.1016/j.jsams.2013.02.006
  • El Khoury, L., Ribbans, W. J., & Raleigh, S. M. (2016). MMP3 and TIMP2 gene variants as predisposing factors for Achilles tendon pathologies: Attempted replication study in a British case–control cohort. Meta Gene, 9, 52–55. doi:10.1016/j.mgene.2016.03.007.
  • Foster, B., Morse, C. I., Onambele, G. L., Ahmetov, I. I., & Williams, A. G. (2012). Genetic variation, protein composition and potential influences on tendon properties in humans. Open Sports Med J, 6, 8–21. doi:10.2174/1874387001206010008
  • Frank, C. B. (2004). Ligament structure, physiology and function. Journal of Musculoskeletal & Neuronal Interactions, 4, 199.
  • Fuller, C. W., Taylor, A., Kemp, S. P. T., & Raftery, M. (2017). Rugby world cup 2015: World rugby injury surveillance study. British Journal of Sports Medicine, 51, 51–57. doi:10.1136/bjsports-2016-096275.
  • Gibbon, A., Hobbs, H., van der Merwe, W., Raleigh, S. M., Cook, J., Handley, C. J., … September, A. V. (2017). The MMP3 gene in musculoskeletal soft tissue injury risk profiling: A study in two independent sample groups. Journal of Sports Sciences, 35, 655–662. doi:10.1080/02640414.2016.1183806.
  • Heffernan, S. M., Kilduff, L. P., Erskine, R. M., Day, S. H., McPhee, J. S., McMahon, G. E., … Williams, A. G. (2016). Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position. Physiological Genomics, 48, 196–201.
  • Heffernan, S. M., Kilduff, L. P., Erskine, R. M., Day, S. H., Stebbings, G. K., Cook, C. J., … Williams, A. G. (2017). COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby. BMC Genomics, 18(Suppl 8), 820. doi:10.1186/s12864-017-4187-3
  • Ho, M. S. P., Böse, K., Mokkapati, S., Nischt, R., & Smyth, N. (2008). Nidogens—extracellular matrix linker molecules. Microscopy Research and Technique, 71, 387–395. doi:10.1002/jemt.20567
  • Jones, G. C., Corps, A. N., Pennington, C. J., Clark, I. M., Edwards, D. R., Bradley, M. M., … Riley, G. P. (2006). Expression profiling of metalloproteinases and tissue inhibitors of metalloproteinases in normal and degenerate human Achilles tendon. Arthritis and Rheumatism, 54, 832–842. doi:10.1002/art.21672.
  • Khoschnau, S., Melhus, H., Jacobson, A., Rahme, H., Bengtsson, H., Ribom, E., … Michaëlsson, K. (2008). Type I collagen alpha1 Sp1 polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. American Journal of Sports Medicine, 36, 2432.
  • Kim, J., & Bartel, D. P. (2009). Allelic imbalance sequencing reveals that single-nucleotide polymorphisms frequently alter microRNA-directed repression. Nature Biotechnology, 27, 472–477. doi:10.1038/nbt.1540.
  • Kim, S. K., Roos, T. R., Roos, A. K., Kleimeyer, J. P., Ahmed, M. A., Goodlin, G. T., … Dragoo, J. L. (2017). Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy. PLoS One, 12, e0170422. doi:10.1371/journal.pone.0170422.
  • King, D., Gissane, C., Clark, T., & Marshall, S. (2014). The incidence of match and training injuries in rugby league: A pooled data analysis of published studies. International Journal of Sports Science & Coaching, 9, 417–431. doi:10.1260/1747-9541.9.2.417
  • Kluivers, K. B., Dijkstra, J. R., Heniks, J. C. M., Lince, S. L., Vierhout, M. E., & Kempen, L. (2009). COL3A1 2209g > A is a predictor of pelvic organ prolapse. International Urogynecology Journal and Pelvic Floor Dysfunction, 20, 1113–1118. doi:10.1007/s00192-009-0913-y
  • Lahiri, D. K., & Nurnberger, J. J. I. (1991). A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Research, 19, 5444–5444. doi:10.1093/nar/19.19.5444
  • Magnusson, K., Turkiewicz, A., Hughes, V., Frobell, R., & Englund, M. (2020). High genetic contribution to anterior cruciate ligament rupture: Heritability ∼69. British Journal of Sports Medicine, doi:10.1136/bjsports-2020-102392
  • Matzke, M. A., & Birchler, J. A. (2005). RNAi-mediated pathways in the nucleus. Nature Reviews Genetics, 6, 24–35. doi:10.1038/nrg1500
  • O'Connell, K., Knight, H., Ficek, K., Leonska-Duniec, A., Maciejewska-Karlowska, A., Sawczuk, M., … Collins, M. (2015). Interactions between collagen gene variants and risk of anterior cruciate ligament rupture. European Journal of Sport Science, 15, 341–350. doi:10.1080/17461391.2014.936324
  • Petersen, W., Pufe, T., Zantop, T., Tillmann, B., Tsokos, M., & Mentlein, R. (2004). Expression of VEGFR-1 and VEGFR-2 in degenerative Achilles tendons. Clinical Orthopaedics and Related Research, 420, 286–291. doi:10.1097/00003086-200403000-00040
  • Posthumus, M., Collins, M., van der Merwe, L., O'Cuinneagain, D., van der Merwe, W., Ribbans, W. J., … Raleigh, S. M. (2012). Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture. Scandinavian Journal of Medicine & Science in Sports, 22, 523–533. doi:10.1111/j.1600-0838.2010.01270.x
  • Posthumus, M., September, A. V., Keegan, M., O'Cuinneagain, D., Van der Merwe, W., Schwellnus, M. P., & Collins, M. (2009). Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. British Journal of Sports Medicine, 43, 352–356. doi:10.1136/bjsm.2008.056150.
  • Rahim, M., El Khoury, L. Y., Raleigh, S. M., Ribbans, W. J., Posthumus, M., Collins, M., & September, A. V. (2016). Human genetic variation, sport and exercise medicine, and Achilles tendinopathy:Role for angiogenesis-associated genes. OMICS, 20, 520–527. doi:10.1089/omi.2016.0116
  • Rahim, M., Gibbon, A., Hobbs, H., van der Merwe, W., Posthumus, M., Collins, M., & September, A. V. (2014). The association of genes involved in the angiogenesis-associated signaling pathway with risk of anterior cruciate ligament rupture. Journal of Orthopaedic Research, 32, 1612–1618. doi:10.1002/jor.22705
  • Raleigh, S. M., Van Der Merwe, L., Ribbans, W. J., Smith, R. K. W., Schwellnus, M. P., & Collins, M. (2009). Variants within the MMP3 gene are associated with Achilles tendinopathy: Possible interaction with the COL5A1 gene. British Journal of Sports Medicine, 43, 514–520. doi:10.1136/bjsm.2008.053892
  • Riley, G. (2004). The pathogenesis of tendinopathy. A molecular perspective. Rheumatology, 43, 131–142. doi:10.1093/rheumatology/keg448
  • Riley, G. P., Harrall, R. L., Constant, C. R., Chard, M. D., Cawston, T. E., & Hazleman, B. L. (1994). Glycosaminoglycans of human rotator cuff tendons: Changes with age and in chronic rotator cuff tendinitis. Annals of the Rheumatic Diseases, 53, 367–376. doi:10.1136/ard.53.6.367
  • Schegg, B., Hülsmeier, A. J., Rutschmann, C., Maag, C., & Hennet, T. (2009). Core glycosylation of collagen is initiated by two β(1-O)galactosyltransferases. Molecular and Cellular Biology, 29, 943. doi:10.1128/MCB.02085-07
  • Sivertsen, E. A., Haug, K. B. F., Kristianslund, E. K., Trøseid, A.-M. S., Parkkari, J., Lehtimäki, T., … Bahr, R. (2019). No association between risk of anterior cruciate ligament rupture and selected candidate collagen gene variants in female elite athletes from high-risk team sports. American Journal of Sports Medicine, 47, 52–58. doi:10.1177/0363546518808467
  • Stępień-Słodkowska, M., Ficek, K., Maciejewska-Karłowska, A., Sawczuk, M., Ziętek, P., Król, P., … Cięszczyk, P. (2015). Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury. Biology of Sport, 32, 143–147. doi:10.5604/20831862.1144416
  • Visse, R., & Nagase, H. (2003). Matrix metalloproteinases and tissue inhibitors of metalloproteinases: Structure, function, and biochemistry. Circulation Research, 92, 827–839. doi:10.1161/01.RES.0000070112.80711.3D
  • Williams, S., Trewartha, G., Kemp, S., & Stokes, K. (2013). A meta-analysis of injuries in senior men's professional rugby union. Sports Medicine, 43, 1043–1055. doi:10.1007/s40279-013-0078-1