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

Volumn 16, Issue 6, 2013, Pages 493-498

  El Khoury, Louis ^a   Posthumus, Michael ^b   Collins, Malcolm ^b,c   Handley, Christopher J ^d   Cook, Jill ^e   Raleigh, Stuart M ^a  

^a UNIVERSITY OF NORTHAMPTON   (United Kingdom)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

^c SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^d LA TROBE UNIVERSITY   (Australia)

^e MONASH UNIVERSITY   (Australia)

Author keywords

A disintegrin and metalloproteinase; A disintegrin and metalloproteinase with thrombospondin motifs; Gene; Tendinopathy; Tissue inhibitor metalloproteinase

Indexed keywords

ADAM PROTEIN; AGGRECANASE 1; AGGRECANASE 2; DISINTEGRIN; TISSUE INHIBITOR METALLOPROTEINASE; UNCLASSIFIED DRUG;

ACHILLES TENDINITIS; ACHILLES TENDON; ADULT; ARTICLE; CAUCASIAN; DNA SEQUENCE; EHLERS DANLOS SYNDROME; FEMALE; GENETIC ASSOCIATION; HOMEOSTASIS; HUMAN; MAJOR CLINICAL STUDY; MALE; OSTEOARTHRITIS; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

A DISINTEGRIN AND METALLOPROTEINASE; A DISINTEGRIN AND METALLOPROTEINASE WITH THROMBOSPONDIN MOTIFS; GENE; TENDINOPATHY; TISSUE INHIBITOR METALLOPROTEINASE;

ACHILLES TENDON; ADAM PROTEINS; ADULT; AUSTRALIA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SOUTH AFRICA; TENDINOPATHY; TISSUE INHIBITOR OF METALLOPROTEINASE-2;

EID: 84885864102     PISSN: 14402440     EISSN: 18781861     Source Type: Journal    
DOI: 10.1016/j.jsams.2013.02.006     Document Type: Article

References (30)

1. Collins M., Raleigh S.M. Genetic risk factors for musculoskeletal soft tissue injuries. Med Sport Sci 2009, 54:136-149.
2. Riley G. The pathogenesis of tendinopathy. A molecular perspective. Rheumatology 2004, 43(2):131-142.
3. Mokone G.G., Gajjar M., September A.V., et al. The guanine-thymine dinucleotide repeat polymorphism within the Tenascin-C gene is associated with Achilles tendon injuries. Am J Sports Med 2005, 33(7):1016-1021.
4. Mokone G.G., Schwellnus M.P., Noakes T.D., et al. The COL5A1 gene and Achilles tendon pathology. Scand J Med Sci Sports 2006, 16(1):19-26.
5. September A.V., Cook J., Handley C.J., et al. Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. Br J Sports Med 2009, 43(5):357-365.
6. Raleigh S.M., van der Merwe L., Ribbans W.J., et al. Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. Br J Sports Med 2009, 43(7):514-520.
7. Posthumus M., Collins M., Cook J., et al. Components of the transforming growth factor-β family and the pathogenesis of human Achilles tendon pathology-a genetic association study. Rheumatology 2010, 49(11):2090-2097.
8. Nell E., van der Merwe L., Cook J., et al. The apoptosis pathway and the genetic predisposition to Achilles tendinopathy. J Orthop Res 2012, 30(11):1719-1724.
9. Jones G., Riley G. ADAMTS proteinases: a multi-domain, multi-functional family with roles in extracellular matrix turnover and arthritis. Arthritis Res Ther 2005, 7(4):160-169.
10. Seals D.F., Courtneidge S.A. The ADAMs family of metalloproteases: multidomain proteins with multiple functions. Gene Dev 2003, 17(1):7-30.
11. Jones G.C., Corps A.N., Pennington C.J., et al. Expression profiling of metalloproteinases and tissue inhibitors of metalloproteinases in normal and degenerate human Achilles tendon. Arthritis Rheum 2006, 54(3):832-842.
12. Kerna I., Kisand K., Tamm A.E., et al. Missense single nucleotide polymorphism of the ADAM12 gene is associated with radiographic knee osteoarthritis in middle-aged Estonian cohort. Osteoarthritis Cartilage 2009, 17(8):1093-1098.
13. Colige A., Sieron A.L., Li S., et al. Human Ehlers-Danlos Syndrome Type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase Gene. Am J Hum Genet 1999, 65(2):308-317.
14. Colige A., Vandenberghe I., Thiry M., et al. Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. J Biol Chem 2002, 277(8):5756-5766.
15. Rodriguez-Lopez J., Pombo-Suarez M., Loughlin J., et al. Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes. Osteoarthritis Cartilage 2009, 17(3):321-327.
16. Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003, 31(13):3812-3814.
17. Malfait A., Liu R., Ijiri K., et al. Inhibition of ADAM-TS4 and ADAM-TS5 prevents aggrecan degradation in osteoarthritic cartilage. J Biol Chem 2002, 277(25):22201-22208.
18. Rodriguez-Lopez J., Mustafa Z., Pombo-Suarez M., et al. Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis. Arthritis Rheum 2008, 58(2):435-441.
19. Karousou E., Ronga M., Vigetti D., et al. Collagens, proteoglycans, MMP-2, MMP-9 and TIMPs in human Achilles tendon rupture RID C-9861-2010. Clin Orthop 2008, 466(7):1577-1582.
20. Pasternak B., Schepull T., Eliasson P., et al. Elevation of systemic matrix metalloproteinases 2 and 7 and tissue inhibitor of metalloproteinase 2 in patients with a history of Achilles tendon rupture: pilot study. Br J Sports Med 2010, 44(9):669-672.
21. Peterson N.B., Beeghly-Fadiel A., Gao Y., et al. Polymorphisms in tissue inhibitors of metalloproteinases-2 and -3 and breast cancer susceptibility and survival. Int J Cancer 2009, 125(4):844-850.
22. Lahiri D., Nurnberger J. A rapid nonenzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991, 19(19):5444.
23. Lo I.K.Y., Marchuk L.L., Hollinshead R., et al. Matrix metalloproteinase and tissue inhibitor of matrix metalloproteinase mRNA levels are specifically altered in torn rotator cuff tendons. Am J Sports Med 2004, 32(5):1223-1229.
24. Yu T., Pang J., Wu K., et al. Aging is associated with increased activities of matrix metalloproteinase-2 and -9 in tenocytes. BMC Musculoskelet Disord 2013, 14(1):2.
25. Seo D., Li H., Guedez L., et al. TIMP-2 mediated inhibition of angiogenesis: an MMP-independent mechanism. Cell 2003, 114(2):171-180.
26. Hammani K., Blakis A., Morsette D., et al. Structure and characterization of the human tissue inhibitor of metalloproteinases-2 gene. J Biol Chem 1996, 271(41):25498-25505.
27. September A.V., Mokone G.G., Schwellnus M.P., et al. Genetic risk factors for Achilles tendon injuries RID G-4046-2011. Int SportMed J 2006, 7(3):201-215.
28. Letra A., Silva R.M., Rylands R.J., et al. MMP3 and TIMP1 variants contribute to chronic periodontitis and may be implicated in disease progression. J Clin Periodontol 2012, 39(8):707-716.
29. Letra A., Silva R.M., Motta L.G., et al. Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts. Birth Defects Res A Clin Mol Teratol 2012, 94(7):540-548.
30. Brown J.C., Miller C.J., Schwellnus M.P., et al. Range of motion measurements diverge with increasing age for COL5A1 genotypes. Scand J Med Sci Sports 2011, 21(6):e266-e272.