Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia

British Journal of Sports Medicine

Volumn 47, Issue 9, 2013, Pages 569-574

  Hay, Melanie ^a   Patricios, Jon ^b,c   Collins, Robert ^c,d   Branfield, Andy ^d   Cook, Jill ^e   Handley, Christopher J ^f   September, Alison V ^a   Posthumus, Michael ^a   Collins, Malcolm ^a,g  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b Morningside Sports Medicine   (South Africa)

^c UNIVERSITY OF PRETORIA   (South Africa)

^d Centre for Sports Medicine and Orthopaedics   (South Africa)

^e MONASH UNIVERSITY   (Australia)

^f LA TROBE UNIVERSITY   (Australia)

^g SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

COL11A1 PROTEIN, HUMAN; COL11A2 PROTEIN, HUMAN; COL12A1 PROTEIN, HUMAN; COL5A1 PROTEIN, HUMAN; COLLAGEN TYPE 11; COLLAGEN TYPE 12; COLLAGEN TYPE 5;

ACHILLES TENDON; ADULT; ARTICLE; AUSTRALIA; CASE CONTROL STUDY; CHRONIC DISEASE; EPISTASIS; ETHNOLOGY; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; GENETICS/SEX TESTING; GENOTYPE; HAPLOTYPE; HUMAN; MALE; SOUTH AFRICA; SPORTING INJURIES; TENDINITIS; TENDON;

ACHILLES TENDON; GENETICS/SEX TESTING; SPORTING INJURIES; TENDONS;

ACHILLES TENDON; ADULT; AUSTRALIA; CASE-CONTROL STUDIES; CHRONIC DISEASE; COLLAGEN TYPE V; COLLAGEN TYPE XI; COLLAGEN TYPE XII; EPISTASIS, GENETIC; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; MALE; POLYMORPHISM, GENETIC; SOUTH AFRICA; TENDINOPATHY;

EID: 84877710239     PISSN: 03063674     EISSN: 14730480     Source Type: Journal    
DOI: 10.1136/bjsports-2013-092379     Document Type: Article

References (38)

1. Riley G. The pathogenesis of tendinopathy. A molecular perspective. Rheumatology (Oxford) 2004;43:131-42.
2. Ribbans WJ, Collins M. Pathology of the tendo Achilles. Do our genes contribute? Bone Joint J 2013;95-B:305-13.
3. September AV, Posthumus M, Collins M. Application of genomics in the prevention, treatment and management of Achilles tendinopathy and anterior cruciate ligament ruptures. Recent Patents DNA Gene Seq 2012;6:216-23.
4. Mokone GG, Schwellnus MP, Noakes TD, et al. The COL5A1 gene and Achilles tendon pathology. Scand J Med Sci Sports 2006;16:19-26.
5. September AV, Cook J, Handley CJ, et al. Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. Br J Sports Med 2009;43:357-65.
6. Laguette MJ, Abrahams Y, Prince S, et al. Sequence variants within the 3'-UTR of the COL5A1 gene alters mRNA stability: implications for musculoskeletal soft tissue injuries. Matrix Biol 2011;30:338-45.
7. Abrahams Y, Laguette MJ, Prince S, et al. Polymorphisms within the COL5A1 3'-UTR that alters mRNA structure and the MIR608 gene are associated with Achilles tendinopathy. Ann Hum Genet. Published Online First: 24 January 2013. doi:10.1111/ahg.12013
8. Wenstrup RJ, Florer JB, Brunskill EW, et al. Type V collagen controls the initiation of collagen fibril assembly. J Biol Chem 2004;279:53331-7.
9. Collins M, Posthumus M. Type V collagen genotype and exercise-related phenotype relationships: a novel hypothesis. Exerc Sport Sci Rev 2011;39:191-8.
10. Fang M, Jacob R, McDougal O, et al. Minor fibrillar collagens, variable regions alternative splicing, intrinsic disorder, and tyrosine sulfation. Protein Cell 2012;3:419-33.
11. Fichard A, Kleman JP, Ruggiero F. Another look at collagen V and XI molecules. Matrix Biol 1995;14:515-31.
12. Wenstrup RJ, Smith SM, Florer JB, et al. Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon. J Biol Chem 2011;286:20455-65.
13. Majava M, Hoornaert KP, Bartholdi D, et al. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A 2007;143:258-64.
14. Koga H, Sakou T, Taketomi E, et al. Genetic mapping of ossification of the posterior longitudinal ligament of the spine. Am J Hum Genet 1998;62:1460-7.
15. Maeda S, Ishidou Y, Koga H, et al. Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 2001;16:948-57.
16. Maeda S, Koga H, Matsunaga S, et al. Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. J Hum Genet 2001;46:1-4.
17. Noponen-Hietala N, Kyllönen E, Männikkö M, et al. Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. Ann Rheum Dis 2003;62:1208-14.
18. Mio F, Chiba K, Hirose Y, et al. A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. Am J Hum Genet 2007;81:1271-7.
19. Lee HS, Lee AT, Criswell LA, et al. Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus. Mol Med 2008;14:293-300.
20. Videman T, Saarela J, Kaprio J, et al. Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. Arthritis Rheum 2009;60:470-81.
21. Koyama K, Nakazato K, Min S, et al. COL11A1 gene is associated with limbus vertebra in gymnasts. Int J Sports Med 2012;33:586-90.
22. Mokone GG, Gajjar M, September AV, et al. The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injuries. Am J Sports Med 2005;33:1016-21.
23. Gauderman WJ. Sample size requirements for association studies of gene-gene interaction. Am J Epidemiol 2002;155:478-84.
24. Gaunt TR, Rodríguez S, Day IN. Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'. BMC Bioinformatics 2007;8:428.
25. Epstein MP, Satten GA. Inference on haplotype effects in case-control studies using unphased genotype data. Am J Hum Genet 2003;73:1316-29.
26. Satten GA, Epstein MP. Comparison of prospective and retrospective methods for haplotype inference in case-control studies. Genet Epidemiol 2004;27:192-201.
27. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81.
28. Mann V, Ralston SH. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone 2003;32:711-17.
29. Mann V, Hobson EE, Li B, et al. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001;107:899-907.
30. Skorupski P, Król J, Starega J, et al. An alpha-1 chain of type I collagen Sp1-binding site polymorphism in women suffering from stress urinary incontinence. Am J Obstet Gynecol 2006;194:346-50.
31. Tilkeridis C, Bei T, Garantziotis S, et al. Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. J Med Genet 2005;42:e44.
32. Khoschnau S, Melhus H, Jacobson A, et al. Type I collagen alpha1 Sp1 polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. Am J Sports Med 2008;36:2432-6.
33. Posthumus M, September AV, Keegan M, et al. Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. Br J Sports Med 2009;43:352-6.
34. Ficek K, Ciȩszczyk P, Kaczmarczyk M, et al. Gene variants within the COL1A1 gene are associated with reduced anterior cruciate ligament injury in professional soccer players. J Sci Med Sport. Published Online First: 15 November 2012. doi:10.1016/j. jsams.2012.10.004
35. Brown KE, Lawrence R, Sonenshein GE. Concerted modulation of alpha 1(XI) and alpha 2(V) collagen mRNAs in bovine vascular smooth muscle cells. J Biol Chem 1991;266:23268-73.
36. Niyibizi C, Eyre DR. Identification of the cartilage α 1 (XI) chain in type V collagen from bovine bone. FEBS Lett 1989;242:314-18.
37. Kleman JP, Hartmann DJ, Ramirez F, et al. The human rhabdomyosarcoma cell line A204 lays down a highly insoluble matrix composed mainly of alpha 1 type-XI and alpha 2 type-V collagen chains. Eur J Biochem 1992;210: 329-35.
38. Mayne R, Brewton RG, Mayne PM, et al. Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous. J Biol Chem 1993;268:9381-6.