Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand

Annals of the Rheumatic Diseases

Volumn 65, Issue 8, 2006, Pages 1060-1066

  Min, Josine ^a   Meulenbelt, I ^a   Riyazi, N ^a   Kloppenburg, M ^a   Houwing Duistermaat, J J ^a   Seymour, A B ^b   Van Duijn, C M ^c   Slagboom, P E ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b PFIZER INC   (United States)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MATRILIN 3; MATRIX PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; CARPOMETACARPAL JOINT; CONTROLLED STUDY; DISEASE COURSE; DNA POLYMORPHISM; FEMALE; HAPLOTYPE; HUMAN; INTERVERTEBRAL DISK; INTERVERTEBRAL DISK DEGENERATION; MAJOR CLINICAL STUDY; MALE; OSTEOARTHRITIS; PHENOTYPE; PRIORITY JOURNAL; RADIOGRAPHY; SIBLING;

ALLELES; DISEASE PROGRESSION; EPIDEMIOLOGIC METHODS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAND JOINTS; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; OSTEOARTHRITIS; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; SPONDYLARTHRITIS;

EID: 33746539962     PISSN: 00034967     EISSN: None     Source Type: Journal    
DOI: 10.1136/ard.2005.045153     Document Type: Article

References (30)

1. Spector TD, MacGregor AJ. Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage 2004;12(suppl A):S39-44.
2. Loughlin J. Genetic epidemiology of primary osteoarthritis. Curr Opin Rheumatol 2001;13:111-16.
3. Aigner T, Dudhia J. Genomics of osteoarthritis. Curr Opin Rheumatol 2003;15:634-40.
4. Stefansson SE, Jonsson H, Ingvarsson T, Manolescu I, Jonsson HH, Olafsdottir G, et al. Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. Am J Hum Genet 2003;72:1448-59.
5. Hunter DJ, Demissie S, Cupples LA, Aliabadi P, Felson DT. A genome scan for joint-specific hand osteoarthritis susceptibility: The Framingham Study. Arthritis Rheum 2004;50:2489-96.
6. Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 2002;19:465-78.
7. Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 2001;28:393-6.
8. Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Makitie O, Cole WG, et al. Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet 2004;41:52-9.
9. Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, et al. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat 2004;24:439-40.
10. Makitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, et al. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Am J Med Genet 2004;125A:278-84.
11. Mostert AK, Dijkstra PF, Jansen BR, van Horn JR, de Graaf B, Heutink P, et al. Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. Am J Med Genet 2003;120A:490-7.
12. Klatt AR, Nitsche DP, Kobbe B, Morgelin M, Paulsson M, Wagener R. Molecular structure and tissue distribution of matrilin-3, a filament-forming extracellular matrix protein expressed during skeletal development. J Biol Chem 2000;275:3999-4006.
13. Pullig O, Weseloh G, Klatt AR, Wagener R, Swoboda B. Matrilin-3 in human articular cartilage: increased expression in osteoarthritis. Osteoarthritis Cartilage 2002;10:253-63.
14. Hofman A, Grobbee DE, de Jong PT, van den Ouweland FA. Determinants of disease and disability in the elderly: the Rotterdam Elderly Study. Eur J Epidemiol 1991;7:403-22.
15. Odding E, Valkenburg HA, Stam HJ, Hofman A. Determinants of locomotor disability in people aged 55 years and over: the Rotterdam Study. Eur J Epidemiol 2001;17:1033-41.
16. Bijkerk C, Houwing-Duistermaat JJ, Valkenburg HA, Meulenbelt I, Hofman A, Breedveld FC, et al. Heritabilities of radiologic osteoarthritis in peripheral joints and of disc degeneration of the spine. Arthritis Rheum 1999;42:1729-35.
17. Kellgren JH, Jeffrey MR, Ball J. The epidemiology of chronic rheumatism, Volume II: Atlas of standard radiographs of arthritis. Oxford: Blackwell Scientific Publications, 1963.
18. Riyazi N, Meulenbelt I, Kroon HM, Ronday KH, Hellio le Graverand MP, Rosendaal FR, et al. Evidence for familial aggregation of hand, hip, and spine osteoarthritis (OA), but not knee OA in siblings with OA at multiple sites. The GARP study. Ann Rheum Dis 2005;64:438-43.
19. Altman R, Asch E, Bloch D, Bole G, Borenstein D, Brandt K, et al. Development of criteria for the classification and reporting of osteoarthritis. Classification of osteoarthritis of the knee. Diagnostic and Therapeutic Criteria Committee of the American Rheumatism Association. Arthritis Rheum 1986;29:1039-49.
20. Altman R, Alarcon G, Appelrouth D, Bloch D, Borenstein D, Brandt K, et al. The American College of Rheumatology criteria for the classification and reporting of osteoarthritis of the hip. Arthritis Rheum 1991;34:505-14.
21. Altman R, Alarcon G, Appelrouth D, Bloch D, Borenstein D, Brandt K, et al. The American College of Rheumatology criteria for the classification and reporting of osteoarthritis of the hand. Arthritis Rheum 1990;33:1601-10.
22. Diggle PJ, Liang KY, Zeger SL. Analysis of longitudinal data, Oxford University Press, 1994.
23. The International HapMap Consortium. The International HapMap Project Nature 2003;426:789-96.
24. Tregouet DA, Escolano S, Tiret L, Mallet A, Golmard JL. A new algorithm for haplotype-based association analysis: the Stochastic-EM algorithm. Ann Hum Genet 2004;68:165-77.
25. Hassett G, Hart DJ, Manek NJ, Doyle DV, Spector TD. Risk factors for progression of lumbar spine disc degeneration: the Chingford Study. Arthritis Rheum 2003;48:3112-7.
26. Hauser N, Paulsson M, Heinegard D, Morgelin M. Interaction of cartilage matrix protein with aggrecan. Increased covalent cross-linking with tissue maturation. J Biol Chem 1996;271:32247-52.
27. Mann HH, Ozbek S, Engel J, Paulsson M, Wagener R. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. J Biol Chem 2004;279:25294-8.
28. Wagener R, Ehlen HW, Ko YP, Kobbe B, Mann HH, Sengle G, et al. The matrilins - adaptor proteins in the extracellular matrix. FEBS Lett 2005;579:3323-9.
29. Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. J Med Genet 2004;41:366-72.
30. Otten C, Wagener R, Paulsson M, Zaucke F. Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. J Med Genet 2005;42:774-9.