Preferences help
enabled [disable] Abstract
Number of results
2015 | 45 | 1 | 103-111
Article title

The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers

Title variants
Languages of publication
The purpose of this study was to examine the association of the BstUI RFLP C/T (rs 12722) and DpnII RFLP C/T (rs 13946) COL5A1 polymorphisms, individually and as haplotypes, with anterior cruciate ligament ruptures in recreational skiers. Subjects were 138 male recreational skiers with surgically diagnosed primary anterior cruciate ligament ruptures. The control group consisted of 183 apparently healthy male recreational skiers, who were without any self-reported history of ligament or tendon injury. DNA was extracted from buccal cells donated by the subjects and genotyping was carried out using real-time PCR. The genotype distributions for both polymorphisms met Hardy- Weinberg expectations in both groups. There were no significant differences in genotype distribution of allele frequencies of COL5A1 BstUI RFLP C/T and COL5A1 DpnII RFLP C/T polymorphisms between the ACL rupture and control groups. The T-T (BstUI RFLP T, DpnII RFLP T) haplotype was the most common (55.6%). The haplotype T-C was not present in any of the subjects. There was an underrepresentation tendency of the C-T haplotype in the study group compared to controls under recessive mode of inheritance. Higher frequency of the COL5A1 BstUI RFLP C/T and COL5A1DpnII RFLP C/T polymorphisms haplotype is associated with reduced risk of anterior cruciate ligament injury in a group of apparently healthy male recreational skiers.
Physical description
1 - 3 - 2015
7 - 4 - 2015
  • Abrahams Y, Laguette MJ, Prince S, Collins M. Polymorphisms within the COL5A1 3'-UTR that alters mRNA structure and the MIR608 gene are associated with Achilles tendinopathy. Ann Hum Genet., 2013; 77(3): 204-14[WoS]
  • Attia J, Ioannidis JP, Thakkinstian A. How to use an article about genetic association: B: Are the results of the study valid? J Am Med Assoc., 2009; 301(2): 191-197[WoS]
  • Bere T, Mok KM, Koga H, Krosshaug T, Nordsletten L, Bahr R. Kinematics of anterior cruciate ligament ruptures in world cup alpine skiing: 2 case reports of the slip-catch mechanism. Am J Sports Med., 2013; 41(5): 1067-73[Crossref]
  • Boyan BD, Hart DA, Enoka RM, Nicolella DP, Resnick E, Berkley KJ, Sluka KA, Kwoh CK, Tosi LL, O’Connor MI, Coutts RD, Kohrt WM. Hormonal modulation of connective tissue homeostasis and sex differences in risk for osteoarthritis of the knee. Biol Sex Differ., 2013; 4(1): 3[PubMed]
  • Brown JC, Miller CJ, Schwellnus MP, Collins M. Range of motion measurements diverge with increasing age for COL5A1 genotypes. Scand J Med Sci Sports., 2011; 21: e266-e272[WoS][Crossref]
  • Chanock SJ, Manolio T, Boehnke M. Replicating genotype - phenotype associations. Nature., 2007; 447(7145): 655-660[WoS]
  • Collins M, Posthumus M. Type V Collagen Genotype and Exercise-Related Phenotype Relationships: A Novel Hypothesis. Exercise and Sport Sciences Reviews, 2011; 39(4): 191-8[WoS][PubMed]
  • Dhillon MS, Bali K, Prabhakar S. Proprioception in anterior cruciate ligament deficient knees and its relevance in anterior cruciate ligament reconstruction Indian. J Orthop., 2011; 45(4): 294-300[WoS]
  • Frank CB. Ligament structure, physiology and function. J Musculoskelet Neuronal Interact., 2004; 4: 199-201[PubMed]
  • Frizziero A, Ferrari R, Giannotti E, Ferroni C, Poli P, Masiero S. The meniscus tear. State of the art of rehabilitation protocols related to surgical procedures. Muscles, Ligaments and Tendons Journal, 2012; 2(4): 295-301
  • Greenspan DS, Pasquinelli AE. BstUI and DpnII RFLPs at the COL5A1 gene. 1. Hum Mol Genet., 1994; 3: 385[Crossref]
  • Hasler RM, Benz J, Benneker LM, Kleim B, Dubler S, Zimmermann H, Exadaktylos AK. Do alpine skiers and snowboarders wear protective equipment more often after an accident? Swiss Med Wkly., 2011; 141: w13283[WoS]
  • Hewett TE, Ford KR, Hoogenboom BJ, Myer GD. Understanding and preventing ACL injuries: current biomechanical and epidemiologic considerations - update 2010, N Am J Sports Phys Ther., 2010; 5(4): 234-251
  • Hewett TE, Lynch TR, Myer GD. Multip-le risk factors related to familial predisposition to anterior cruciate ligament injury: fraternal twin sisters with anterior cruciate ligament ruptures. Br J Sports Med., 2010; 44(12): 848-855[Crossref][WoS]
  • Kruk J. Good scientific practice and ethical principles in scientific research and higher education. Central European Journal of Sport Sciences and Medicine, 2013; Vol. 1 No. 1/2013: 25-29
  • Longo UG, Fazio V, Poeta ML, Rabitti C, Franceschi F, Maffulli N, Denaro V. Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene. Knee Surg Sports Traumatol Arthrosc., 2010; 18(4): 514-8[Crossref]
  • Mokone GG, Schwellnus MP, Noakes TD, Collins M. The COL5A1 gene and Achilles tendon pathology. Scand J Med Sci Sports., 2006; 16(1): 19-26[Crossref]
  • Myer GD, Brent JL, Ford KR, Hewett TE. Real-time assessment and neuromuscular training feedback techniques to prevent ACL injury in female athletes. Strength Cond J., 2011; 1; 33(3): 21-35[WoS]
  • O’Connel K, Saunders CJ, Collins M. Collagen gene sequence variants in exercise-related traits. Central European Journal of Sport Sciences and Medicine., 2013; Vol. 1 No. 1/2013: 3-17
  • O'Connell K, Posthumus M, Schwellnus MP, Collins M. Collagen genes and exercise-associated muscle cramping. Clin J Sport Med., 2013; 23(1): 64-9[WoS][Crossref]
  • O'Donnell ME, Badger SA, Campbell D, Loan W, Sinnott B. The skiers knee without swelling or instability, a difficult diagnosis: a case report. J Med Case Reports., 2007; 1: 11
  • Posthumus M, Schwellnus MP, Collins M. The COL5A1 Gene: A Novel Marker of Endurance Running Performance. Medicine & Science In Sports & Exercise, 2011
  • Posthumus M, September AV, Schwellnus MP, Collins M. The COL5A1 gene and musculoskeletal soft-tissue injuries. SAJSM, 2010; vol 22, No. 2
  • Posthumus M, Collins M, van der Merwe L, O'Cuinneagain D, van der Merwe W, Ribbans WJ, Schwellnus MP, Raleigh SM. Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture. Scand J Med Sci Sports., 2012; 22(4): 523-33[Crossref]
  • Pruna R, Artells R, Ribas J, Montoro B, Cos F, Muñoz C, Rodas G, Maffulli N. Single nucleotide polymorphisms associated with non-contact soft tissue injuries in elite professional soccer players: influence on degree of injury and recovery time. BMC Musculoskelet Disord., 2013; 14: 221[WoS][Crossref][PubMed]
  • Raleigh SM, van der Merwe L, Ribbans WJ, Smith RK, Schwellnus MP, Collins M. Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. Br J Sports Med., 2009; 43(7): 514-20[WoS][Crossref]
  • Sawczuk M, Maciejewska A, Cięszczyk P, Eider J. The role of genetic research in sport. Sci. Sports., 2011; 26: 251-258[WoS][Crossref]
  • Smith HC, Vacek P, Johnson RJ, Slauterbeck JR, Hashemi J, Shultz S, Beynnon BD. Risk Factors for Anterior Cruciate Ligament Injury. A Review of the Literature-Part 2: Hormonal, Genetic, Cognitive Function, Previous Injury, and Extrinsic Risk Factors. Sports Health., 2012; 4(2): 155-161[Crossref][PubMed]
  • Spörri J, Kröll J, Schwameder H, Schiefermüller Ch, Müller E. Course setting and selected biomechanical variables related to injury risk in alpine ski racing: an explorative case study. Br J Sports Med., 2012; 46(15): 1072-1077[WoS][Crossref]
  • Sutton KM, Bullock JM. Anterior cruciate ligament rupture: differences between males and females. J Am Acad Orthop Surg., 2013; 21(1): 41-50[WoS][Crossref]
  • Tovar N, Bourke S, Jaffe M, Murthy NS, Kohn J, Gatt C, Dunn MGA. Comparison of degradable synthetic polymer fibers for anterior cruciate ligament reconstruction. J Biomed Mater Res A., 2010; 93(2): 738-747[PubMed][WoS]
  • Warden SJ, Saxon LK, Castillo AB, Turner CH. Knee ligament mechanical properties are not influenced by estrogen or its receptors. Translational physiology, Am J Physiol., 2006; Vol. 290 no. E1034-E1040
Document Type
Publication order reference
YADDA identifier
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.