Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture

Scandinavian Journal of Medicine and Science in Sports

Volumn 22, Issue 4, 2012, Pages 523-533

  Posthumus, M ^a,c   Collins, M ^b,c,d   van der Merwe, L ^b,c,e   O'Cuinneagain, D ^f   van der Merwe, W ^f   Ribbans, W J ^a   Schwellnus, M P ^c,d   Raleigh, S M ^a  

^a UNIVERSITY OF NORTHAMPTON   (United Kingdom)

^b SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d International Olympic Committee   (South Africa)

^e UNIVERSITY OF THE WESTERN CAPE   (South Africa)

^f Sports Science Orthopaedic Clinic   (South Africa)

Author keywords

Genetic; Injury; Predisposition; Ruptures; Tear

Indexed keywords

INTERSTITIAL COLLAGENASE; MACROPHAGE ELASTASE; MATRIX METALLOPROTEINASE; MMP1 PROTEIN, HUMAN; MMP10 PROTEIN, HUMAN; MMP12 PROTEIN, HUMAN; MMP3 PROTEIN, HUMAN; STROMELYSIN; STROMELYSIN 2;

ADOLESCENT; ADULT; ANTERIOR CRUCIATE LIGAMENT; CASE CONTROL STUDY; CHROMOSOME 11; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INJURIES; KNEE INJURY; MALE; RUPTURE; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

ADOLESCENT; ADULT; ANTERIOR CRUCIATE LIGAMENT; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KNEE INJURIES; MALE; MATRIX METALLOPROTEINASE 1; MATRIX METALLOPROTEINASE 10; MATRIX METALLOPROTEINASE 12; MATRIX METALLOPROTEINASE 3; MATRIX METALLOPROTEINASES; POLYMORPHISM, SINGLE NUCLEOTIDE; RUPTURE; YOUNG ADULT;

EID: 84864143609     PISSN: 09057188     EISSN: 16000838     Source Type: Journal    
DOI: 10.1111/j.1600-0838.2010.01270.x     Document Type: Article

References (37)

1. Aulisa L, Papaleo P, Pola E, Angelini F, Aulisa AG, Tamburrelli FC, Pola P, Logroscino CA.Association between IL-6 and MMP-3 gene polymorphisms and adolescent idiopathic scoliosis: a case-control study. Spine (Phila Pa 1976) 2007: 32: 2700-2702.
2. Barlas IO, Sezgin M, Erdal ME, Sahin G, Ankarali HC, Altintas ZM, Turkmen E.Association of (-1, 607) 1G/2G polymorphism of matrix metalloproteinase-1 gene with knee osteoarthritis in the Turkish population (knee osteoarthritis and MMPs gene polymorphisms). Rheumatol Int 2009: 29: 383-388.
3. Birkedal-Hansen H, Moore WG, Bodden MK, Windsor LJ, Birkedal-Hansen B, DeCarlo A, Engler JA.Matrix metalloproteinases: a review. Crit Rev Oral Biol Med 1993: 4: 197-250.
4. Collins M, Raleigh SM.Genetic risk factors for musculoskeletal soft tissue injuries. Med Sport Sci 2009: 54: 136-149.
5. Coon CI, Fiering S, Gaudet J, Wyatt CA, Brinckerhoff CE.Site controlled transgenic mice validating increased expression from human matrix metalloproteinase (MMP-1) promoter due to a naturally occurring SNP. Matrix Biol 2009: 28: 425-431.
6. Davidson RK, Waters JG, Kevorkian L, Darrah C, Cooper A, Donell ST, Clark IM.Expression profiling of metalloproteinases and their inhibitors in synovium and cartilage. Arthritis Res Ther 2006: 8: R124.
7. Flynn RK, Pedersen CL, Birmingham TB, Kirkley A, Jackowski D, Fowler PJ.The familial predisposition toward tearing the anterior cruciate ligament: a case control study. Am J Sports Med 2005: 33: 23-28.
8. Gianotti SM, Marshall SW, Hume PA, Bunt L.Incidence of anterior cruciate ligament injury and other knee ligament injuries: a national population-based study. J Sci Med 2009: 12(6): 622-627.
9. Griffin LY, Albohm MJ, Arendt EA, Bahr R, Beynnon BD, Demaio M, Dick RW, Engebretsen L, Garrett WEJr., Hannafin JA, Hewett TE, Huston LJ, Ireland ML, Johnson RJ, Lephart S, Mandelbaum BR, Mann BJ, Marks PH, Marshall SW, Myklebust G, Noyes FR, Powers C, Shields CJr., Shultz SJ, Silvers H, Slauterbeck J, Taylor DC, Teitz CC, Wojtys EM, Yu B.Understanding and preventing noncontact anterior cruciate ligament injuries: a review of the Hunt Valley II meeting, January 2005. Am J Sports Med 2006: 34: 1512-1532.
10. Harner CD, Paulos LE, Greenwald AE, Rosenberg TD, Cooley VC.Detailed analysis of patients with bilateral anterior cruciate ligament injuries. Am J Sports Med 1994: 22: 37-43.
11. Ioannidis JP, Trikalinos TA, Ntzani EE, Contopoulos-Ioannidis DG.Genetic associations in large versus small studies: an empirical assessment. Lancet 2003: 361: 567-571.
12. Jormsjo S, Ye S, Moritz J, Walter DH, Dimmeler S, Zeiher AM, Henney A, Hamsten A, Eriksson P.Allele-specific regulation of matrix metalloproteinase-12 gene activity is associated with coronary artery luminal dimensions in diabetic patients with manifest coronary artery disease. Circ Res 2000: 86: 998-1003.
13. Kalichman L, Hunter DJ.The genetics of intervertebral disc degeneration. Associated genes. Joint Bone Spine 2008: 75: 388-396.
14. Khoschnau S, Melhus H, Jacobson A, Rahme H, Bengtsson H, Ribom E, Grundberg E, Mallmin H, Michaelsson K.Type I collagen {alpha}1 Sp1 polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. Am J Sports Med 2008: 36: 2432-2436.
15. Kumar P, Henikoff S, Ng PC.Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009: 4: 1073-1081.
16. Lahiri K, Nurnberger JI.A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991: 19: 5444.
17. Malik MH, Jury F, Bayat A, Ollier WE, Kay PR.Genetic susceptibility to total hip arthroplasty failure: a preliminary study on the influence of matrix metalloproteinase 1, interleukin 6 polymorphisms and vitamin D receptor. Ann Rheum Dis 2007: 66: 1116-1120.
18. Marshall SW, Padua D, McGrath M.Incidence of ACL injuries. In: Hewett TE, Schultz SJ, Griffin LY, eds. Understanding and preventing noncontact ACL injuries. Champaign, IL: Human Kinetics, 2007 p. 5-30.
19. Mokone GG, Gajjar M, September AV, Schwellnus MP, Greenberg J, Noakes TD, Collins M.The Guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injuries. Am J Sports Med 2005: 33: 1016-1021.
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. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 2004: 74: 765-769.
22. Ogata T, Shibamura H, Tromp G, Sinha M, Goddard KA, Sakalihasan N, Limet R, MacKean GL, Arthur C, Sueda T, Land S, Kuivaniemi H.Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. J Vasc Surg 2005: 41: 1036-1042.
23. Pasternak B, Aspenberg P.Metalloproteinases and their inhibitors-diagnostic and therapeutic opportunities in orthopedics. Acta Orthop 2009: 80: 693-703.
24. Pendas AM, Santamaria I, Alvarez MV, Pritchard M, Lopez-Otin C.Fine physical mapping of the human matrix metalloproteinase genes clustered on chromosome 11q22.3. Genomics 1996: 37: 266-268.
25. Perneger TV What's wrong with Bonferroni adjustments. BMJ 1998: 316: 1236-1238.
26. Posthumus M, September AV, Keegan M, O'Cuinneagain D, van der Merwe W, Schwellnus MP, Collins M.Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. Br J Sports Med 2009a: 43: 352-356.
27. 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 2009b: 37: 2234-2240.
28. Posthumus M, September AV, O'Cuinneagain D, van der MW, Schwellnus MP, Collins M.The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br J Sports Med 2009c (in press).
29. 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: 514-520.
30. Riley G. The pathogenesis of tendinopathy. A molecular perspective. Rheumatology (Oxford) 2004: 43: 131-142.
31. Rutter JL, Mitchell TI, Buttice G, Meyers J, Gusella JF, Ozelius LJ, Brinckerhoff CE.A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res 1998: 58: 5321-5325.
32. September AV, Schwellnus MP, Collins M.Tendon and ligament injuries: the genetic component. Br J Sports Med 2007: 41: 241-246.
33. Somerville RP, Oblander SA, Apte SS.Matrix metalloproteinases: old dogs with new tricks. Genome Biol 2003: 4: 216.
34. Souslova V, Townsend PA, Mann J, van der Loos CM, Motterle A, D'Acquisto F, Mann DA, Ye S.Allele-specific regulation of matrix metalloproteinase-3 gene by transcription factor NFkappaB. PLoS One 2010: 5: e9902.
35. Su L, Zhou W, Asomaning K, Lin X, Wain JC, Lynch TJ, Liu G, Christiani DC.Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer. Carcinogenesis 2006: 27: 1024-1029.
36. Sun T, Gao Y, Tan W, Ma S, Zhang X, Wang Y, Zhang Q, Guo Y, Zhao D, Zeng C, Lin D.Haplotypes in matrix metalloproteinase gene cluster on chromosome 11q22 contribute to the risk of lung cancer development and progression. Clin Cancer Res 2006: 12: 7009-7017.
37. Ye S, Patodi N, Walker-Bone K, Reading I, Cooper C, Dennison E.Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis. Int J Immunogenet 2007: 34: 81-85.