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The Many Faces of Osteoarthritis pp 17–25Cite as

Birkhäuser

Genetics and osteoarthritis

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Abstract

Genetic approaches complement other approaches for gaining insights about the pathogenesis of osteoarthritis. Genetic mapping of simple Mendelian skeletal diseases can identify genes that participate in normal joint homeostatic pathways. Genetic studies in cohorts of patients having common forms of osteoarthritis will be more challenging, but may also identify genes that contribute to osteoarthritis predisposition and/or disease progression. Employing the entire human transcriptome to study changes in gene expression between normal and diseased tissues, or cells, can identify other participants in these complex pathways. Finally, naturally occurring mutations, or induced genetic variations, in other organisms can be used to model human disease phenotypes and further dissect the processes responsible for disease pathogenesis.

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References

  1. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W et al (2001) Initial sequencing and analysis of the human genome. Nature 409 (6822): 860–921

    Article  PubMed  CAS  Google Scholar 

  2. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA et al (2001) The sequence of the human genome. Science 291 (5507): 1304–1351

    Article  PubMed  CAS  Google Scholar 

  3. International working group on constitutional diseases of hone (1998) International nomenclature and classification of the osteochondrodysplasias (1997). Am] Med Genet 79 (5): 376–382

    Article  Google Scholar 

  4. Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters L (1998) New goals for the U.S. Human Genome Project: 1998–2003. Science 282 (5389): 682–689

    Article  PubMed  CAS  Google Scholar 

  5. Fisher S, Halpern ME (1999) Patterning the zebrafish axial skeleton requires early chordin function. Nat Genet 23 (4): 442–446

    Article  PubMed  CAS  Google Scholar 

  6. Ho AM, Johnson MD, Kingsley DM (2000) Role of the mouse ank gene in control of tissue calcification and arthritis. Science 289 (5477): 265–270

    Article  PubMed  CAS  Google Scholar 

  7. Holderbaum D, Haqqi TM, Moskowitz RW (1999) Genetics and osteoarthritis: exposing the iceberg. Arthritis Rheum 42 (3): 397–405

    Article  PubMed  CAS  Google Scholar 

  8. Meulenbelt I, Bijkerk C, De Wildt SC, Miedema HS, Breedveld FC, Pols HA, Hofman A, Van Duijn CM, Slagboom PE (1999) Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis. Ann Hum Genet 63 (Pt 5): 393–400

    Article  PubMed  CAS  Google Scholar 

  9. Priestley L, Fergusson C, Ogilvie D, Wordsworth P, Smith R, Pattrick M, Doherty M, Sykes B (1991) A limited association of generalized osteoarthritis with alleles at the type II collagen locus: COL2A1. Br J Rheumatol 30 (4): 272–275

    Article  PubMed  CAS  Google Scholar 

  10. Uitterlinden AG, Burger H, van Duijn CM, Huang Q, Hofman A, Birkenhager JC, van Leeuwen JP, Pols HA (2000) Adjacent genes, for COL2A1 and the vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee. Arthritis Rheum 43 (7): 1456–1464

    Article  PubMed  CAS  Google Scholar 

  11. Chitnavis J, Sinsheimer JS, Clipsham K, Loughlin J, Sykes B, Burge PD, Carr AJ (1997) Genetic influences in end-stage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis. J Bone Joint Surg Br 79 (4): 660–664

    Article  PubMed  CAS  Google Scholar 

  12. Lanyon P, Muir K, Doherty S, Doherty M (2000) Assessment of a genetic contribution to osteoarthritis of the hip: sibling study. Bmj 321 (7270): 1179–1183

    Article  PubMed  CAS  Google Scholar 

  13. el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J (1998) Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. Eur J Hum Genet 6 (3): 251–256

    Article  PubMed  CAS  Google Scholar 

  14. Chapman K, Mustafa Z, Irven C, Carr A J, Clipsham K, Smith A, Chitnavis J, Sinsheimer JS, Bloomfield VA, McCartney M (1999) Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage. Am J Hum Genet 65 (1): 167–174

    Article  PubMed  CAS  Google Scholar 

  15. Loughlin J, Mustafa Z, Irven C, Smith A, Carr AJ, Sykes B, Chapman K (1999) Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16 [letter]. Am J Hum Genet 65 (6): 1795–1798

    Article  PubMed  CAS  Google Scholar 

  16. Risch N (1990) Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am J Hum Genet 46 (2): 229–241

    PubMed  CAS  Google Scholar 

  17. Felson DT, Zhang Y (1998) An update on the epidemiology of knee and hip osteoarthritis with a view to prevention. Arthritis Rheum 41 (8): 1343–1355

    Article  PubMed  CAS  Google Scholar 

  18. Camargo AA, Samaia HP, Dias-Neto E, Simao DF, Migotto IA, Briones MR, Costa FF, Nagai MA, Verjovski-Almeida S, Zago MA et al (2001) The contribution of 700,000 ORF sequence tags to the definition of the human transcriptome. Proc Natl Acad Sci USA 98 (21): 12103–12108

    Article  PubMed  Google Scholar 

  19. Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish Wet al (1996) Generation and analysis of 280,000 human expressed sequence tags. Genome Res 6 (9): 807–828

    Article  PubMed  CAS  Google Scholar 

  20. Schulze A, Downward J (2001) Navigating gene expression using microarrays — a technology review. Nat Cell Biol 3 (8): E190–195

    Article  PubMed  CAS  Google Scholar 

  21. Swann DA, Hendren RB, Radin EL, Sotman SL, Duda EA (1981) The lubricating activity of synovial fluid glycoproteins. Arthritis Rheum 24 (1): 22–30

    Article  PubMed  CAS  Google Scholar 

  22. Turner KJ, Fitz LJ, Temple g Jacobs K, Larson D, Leary AC, Kelleher K, Gionnotti J, Calvetti J, Fitzgerald M et al (1991) Purification, biochemical characterization, and cloning of a novel megakaryocyte stimulating factor that has megakaryocyte stimulating activity. Blood 78: 279a

    Google Scholar 

  23. Schumacher BL, Block JA, Schmid TM, Aydelotte MB, Kuettner KE (1994) A novel proteoglycan synthesized and secreted by chondrocytes of the superficial zone of articular cartilage. Arch Biochem Biophys 311 (1): 144–152

    Article  PubMed  CAS  Google Scholar 

  24. Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxcvanis A, Johnstone B et al (1999) CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet 23 (3): 319–322

    Article  PubMed  CAS  Google Scholar 

  25. Ikegawa S, Sano M, Koshizuka Y, Nakamura Y (2000) Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes. Cytogenet Cell Genet 90 (3–4): 291–297

    Article  PubMed  CAS  Google Scholar 

  26. Flannery CR, Hughes CE, Schumacher BL, Tudor D, Aydelotte MB, Kuettner KE, Cater-son B (1999) Articular cartilage superficial zone protein (SZP) is homologous to megakaryocyte stimulating factor precursor and is a multifunctional proteoglycan with potential growth-promoting, cytoprotective, and lubricating properties in cartilage metabolism. Biochem Biophys Res Commun 254 (3): 535–541

    Article  PubMed  CAS  Google Scholar 

  27. Jay GD, Britt DE, Cha CJ (2000) I,ubricin is a product of mcgakaryocyte stimulating factor gene expression by human synovial fibroblasts [see comments]. J Rheumatol 27 (3): 594–600

    PubMed  CAS  Google Scholar 

  28. Merberg DM, Fitz LJ, Temple P, Giannotti J, Murtha P, Fitzgerald M, Scaltreto H, Kelleher K, Preissner K, Kriz R et al (1993) A comparison of vitronectin and megakaryocyte stimulating factor, in: KT Preissner, S, Rosenblatt, CW Kost, J Wegerhoff, DF Mosher (eds): Biology of vitronectins and their receptors, Elsevier Science Publishers BV, Amsterdam, 45–54

    Google Scholar 

  29. Bahabri SA, Suwairi WM, Laxer RM, Polinkovsky A, Dalaan AA, Warman ML (1998) The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum 41 (4): 730–735

    Article  CAS  Google Scholar 

  30. Schumacher BL, Hughes CE, Kuettner KE, Caterson B, Aydelotte MB (1999) Immunodetection and partial cDNA sequence of the proteoglycan, superficial zone protein, synthesized by cells lining synovial joints. J Orthop Res 17 (1): 110–120

    Article  PubMed  CAS  Google Scholar 

  31. Swann DA, Silver FH, Slayter HS, Stafford W, Shore E (1985) The molecular structure and lubricating activity of lubricin isolated from bovine and human synovial fluids. Biochem f 225 (1): 195–201

    CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Departments of Genetics and Pediatrics and Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH, USA

    Matthew L. Warman

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  1. Matthew L. Warman
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Editor information

Editors and Affiliations

  1. Department of Biomedical Engineering, The Cleveland Clinic Foundation, Orthopaedic Research Center, 9500 Euclid Avenue, Cleveland, OH, 44195, USA

    Vincent C. Hascall

  2. Department of Biochemistry, Rush Medical College at Rush Presbyterian-St. Luke’s Medical Center, 1653 West Congress Parkway, Chicago, IL, 60612-3864, USA

    Klaus E. Kuettner

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© 2002 Springer Basel AG

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Warman, M.L. (2002). Genetics and osteoarthritis. In: Hascall, V.C., Kuettner, K.E. (eds) The Many Faces of Osteoarthritis. Birkhäuser, Basel. https://doi.org/10.1007/978-3-0348-8133-3_2

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  • DOI: https://doi.org/10.1007/978-3-0348-8133-3_2

  • Publisher Name: Birkhäuser, Basel

  • Print ISBN: 978-3-0348-9450-0

  • Online ISBN: 978-3-0348-8133-3

  • eBook Packages: Springer Book Archive

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