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Genetic and Epigenetic Aspects of Osteoarthritis

  • Kay E. Chapman
  • Helmtrud I Roach
Chapter
  • 1.8k Downloads
Part of the Topics in Bone Biology book series (TBB, volume 4)

Keywords

Osteoarthritic Cartilage CMC1 Joint Hand Osteoarthritis Linkage Interval Finer Linkage Mapping 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Aigner T, McKenna L (2002) Molecular pathology and pathobiology of osteoarthritic cartilage. Cell Mol Life Sci 59:5–18.PubMedGoogle Scholar
  2. 2.
    Aigner T, Zien A, Hanisch D, Zimmer R (2003) Gene expression in chondrocytes assessed with use of microarrays. J Bone Joint Surg Am 85A(suppl 2): 117–123.Google Scholar
  3. 3.
    Alizadeh BZ, Njajou OT, Bijkerk C, Meulenbelt I, Wildt SC, Hofman A, Pols HA, Slagboom PE, Duijn CM (2005) Evidence for a role of the genomic region of the gene encoding for the alpha1 chain of type IX collagen (COL9A1) in hip osteoarthritis: a population-based study. Arthritis Rheum 52: 1437–1442.PubMedGoogle Scholar
  4. 4.
    Baylin SB, Esteller M, Rountree MR, Bachman KE, Schuebel K, Herman JG (2001) Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer. Hum Mol Genet 10:687–692.PubMedGoogle Scholar
  5. 5.
    Bergink AP, van Meurs JB, Loughlin J, Arp PP, Fang Y, Hofman A, van Leeuwen JP, Van Duijn CM, Uitterlinden AG, Pols HA (2003) Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women. Arthritis Rheum 48:1913–1922.PubMedGoogle Scholar
  6. 6.
    Brandeis M, Frank D, Keshet I, Siegfried Z, Mendelsohn M, Nemes A, Temper V, Razin A, Cedar H (1994) Sp1 elements protect a CpG island from de novo methylation. Nature 371:435–438.PubMedGoogle Scholar
  7. 7.
    Brandt KD (1998) Osteoarthritis. Oxford: Oxford University Press.Google Scholar
  8. 8.
    Chapman K, Carr A, Loughlin J, Sinsheimer JS (2006) Presence of a primary hip osteoarthritis susceptibility locus on chromosome 6: comment on the article by Meenagh et al. Arthritis Rheum 54:1026–1027.PubMedGoogle Scholar
  9. 9.
    Chapman K, Mustafa Z, Dowling B, Southam L, Carr A, Loughlin J (2002) Finer linkage mapping of primary hip osteoarthritis susceptibility on chromosome 11q in a cohort of affected female sibling pairs. Arthritis Rheum 46:1780–1783.PubMedGoogle Scholar
  10. 10.
    Chapman K, Mustafa Z, Irven C, Carr AJ, Clipsham K, Smith A, Chitnavis J, Sinsheimer JS, Bloomfield VA, McCartney M, Cox O, Cardon LR, Sykes B, Loughlin J (1999) Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage. Am J Hum Genet 65:167–174.PubMedGoogle Scholar
  11. 11.
    Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD (2001) Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 28:393–396.PubMedGoogle Scholar
  12. 12.
    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 79:660–664.PubMedGoogle Scholar
  13. 13.
    Davis CD, Uthus EO (2004) DNA methylation, cancer susceptibility, and nutrient interactions. Exp Biol Med (Maywood ) 229:988–995.Google Scholar
  14. 14.
    Demissie S, Cupples LA, Myers R, Aliabadi P, Levy D, Felson DT (2002) Genome scan for quantity of hand osteoarthritis: the Framingham Study. Arthritis Rheum 46:946–952.PubMedGoogle Scholar
  15. 15.
    DiLeone RJ, Marcus GA, Johnson MD, Kingsley DM (2000) Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. Proc Natl Acad Sci U S A 97:1612–1617.PubMedGoogle Scholar
  16. 16.
    Ding C, Cicuttini F, Scott F, Stankovich J, Cooley H, Jones G (2005) The genetic contribution and relevance of knee cartilage defects: case-control and sib-pair studies. J Rheumatol 32:1937–1942.PubMedGoogle Scholar
  17. 17.
    Duerr S, Stremme S, Soeder S, Bau B, Aigner T (2004) MMP-2/gelatinase A is a gene product of human adult articular chondrocytes and is increased in osteoarthritic cartilage. Clin Exp Rheumatol 22: 603–608.PubMedGoogle Scholar
  18. 18.
    Ehrlich M (2003) Expression of various genes is controlled by DNA methylation during mammalian development. J Cell Biochem 88:899–910.PubMedGoogle Scholar
  19. 19.
    Esteller M, Corn PG, Baylin SB, Herman JG (2001) A gene hypermethylation profile of human cancer. Cancer Res 61:3225–3229.PubMedGoogle Scholar
  20. 20.
    Fan Z, Chubinskaya S, Rueger DC, Bau B, Haag J, Aigner T (2004) Regulation of anabolic and catabolic gene expression in normal and osteoarthritic adult human articular chondrocytes by osteogenic protein-1. Clin Exp Rheumatol 22:103–106.PubMedGoogle Scholar
  21. 21.
    Felson DT, Couropmitree NN, Chaisson CE, Hannan MT, Zhang Y, McAlindon TE, LaValley M, Levy D, Myers RH (1998) Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: the Framingham Study. Arthritis Rheum 41:1064–1071.PubMedGoogle Scholar
  22. 22.
    Forster T, Chapman K, Loughlin J (2004) Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis. Hum Genet 114:391–395.PubMedGoogle Scholar
  23. 23.
    Forster T, Chapman K, Marcelline L, Mustafa Z, Southam L, Loughlin J (2004) Finer linkage mapping of primary osteoarthritis susceptibility loci on chromosomes 4 and 16 in families with affected women. Arthritis Rheum 50:98–102.PubMedGoogle Scholar
  24. 24.
    Freemont AJ, Hampson V, Tilman R, Goupille P, Taiwo Y, Hoyland JA (1997) Gene expression of matrix metalloproteinases 1, 3, and 9 by chondrocytes in osteoarthritic human knee articular cartilage is zone and grade specific. Ann Rheum Dis 56: 542–549.PubMedGoogle Scholar
  25. 25.
    Fruhwald MC, Plass C (2002) Global and gene-specific methylation patterns in cancer: aspects of tumor biology and clinical potential. Mol Genet Metab 75:1–16.PubMedGoogle Scholar
  26. 26.
    Fukui N, Purple CR, Sandell LJ (2001) Cell biology of osteoarthritis: the chondrocyte’s response to injury. Curr Rheumatol Rep 3:496–505.PubMedGoogle Scholar
  27. 27.
    Gillaspy E, Spreckley K, Wallis G, Doherty M, Spector TD (2002) Investigation of linkage on chromosome 2q and hand and knee osteoarthritis. Arthritis Rheum 46:3386–3387.PubMedGoogle Scholar
  28. 28.
    Goldring MB (2000) The role of the chondrocyte in osteoarthritis. Arthritis Rheum 43:1916–1926.PubMedGoogle Scholar
  29. 29.
    Hirsch R, Lethbridge-Cejku M, Hanson R, Scott WW Jr, Reichle R, Plato CC, Tobin JD, Hochberg MC (1998) Familial aggregation of osteoarthritis: data from the Baltimore Longitudinal Study on Aging. Arthritis Rheum 41:1227–1232.PubMedGoogle Scholar
  30. 30.
    Huhtala P, Tuuttila A, Chow LT, Lohi J, Keski-Oja J, Tryggvason K (1991) Complete structure of the human gene for 92-kDa type IV collagenase. Divergent regulation of expression for the 92- and 72-kilodalton enzyme genes in HT-1080 cells. J Biol Chem 266:16485–16490.PubMedGoogle Scholar
  31. 31.
    Hunter DJ, Demissie S, Cupples LA, Aliabadi P, Felson DT (2004) A genome scan for joint-specific hand osteoarthritis susceptibility: the Framingham Study. Arthritis Rheum 50:2489–2496.PubMedGoogle Scholar
  32. 32.
    Ingvarsson T, Stefansson SE, Gulcher JR, Jonsson HH, Jonsson H, Frigge ML, Palsdottir E, Olafsdottir G, Jonsdottir T, Walters GB, Lohmander LS, Stefansson K (2001) A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p. Arthritis Rheum 44:2548–2555.PubMedGoogle Scholar
  33. 33.
    Ingvarsson T, Stefansson SE, Hallgrimsdottir IB, Frigge ML, Jonsson H, Jr., Gulcher J, Jonsson H, Ragnarsson JI, Lohmander LS, Stefansson K (2000) The inheritance of hip osteoarthritis in Iceland. Arthritis Rheum 43:2785–2792.PubMedGoogle Scholar
  34. 34.
    Jaenisch R, Bird A (2003) Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet 33(suppl):245–254.PubMedGoogle Scholar
  35. 35.
    Jin SY, Hong SJ, Yang HI, Park SD, Yoo MC, Lee HJ, Hong MS, Park HJ, Yoon SH, Kim BS, Yim SV, Park HK, Chung JH (2004) Estrogen receptor-alpha gene haplotype is associated with primary knee osteoarthritis in Korean population. Arthritis Res Ther 6:R415–R421.PubMedGoogle Scholar
  36. 36.
    Kaliakatsos M, Tzetis M, Kanavakis E, Fytili P, Chouliaras G, Karachalios T, Malizos K, Tsezou A (2006) Asporin and knee osteoarthritis in patients of Greek origin. Osteoarthritis Cartilage 14:609–611PubMedGoogle Scholar
  37. 37.
    Kalichman L, Kobyliansky E, Malkin I, Yakovenko K, Livshits G (2003) Search for linkage between hand osteoarthritis and 11q 12-13 chromosomal segment. Osteoarthritis Cartilage 11:561–568.PubMedGoogle Scholar
  38. 38.
    Keen RW, Hart DJ, Lanchbury JS, Spector TD (1997) Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene. Arthritis Rheum 40:1444–1449.PubMedGoogle Scholar
  39. 39.
    Kellgren JH, Lawrence JS, Bier F (1963) Genetic factors in generalised osteoarthrosis. Ann Rheum Dis 22:237–255.PubMedGoogle Scholar
  40. 40.
    Kim YI, Logan JW, Mason JB, Roubenoff R (1996) DNA hypomethylation in inflammatory arthritis: reversal with methotrexate. J Lab Clin Med 128:165–172.PubMedGoogle Scholar
  41. 41.
    Kizawa H, Kou I, Iida A, Sudo A, Miyamoto Y, Fukuda A, Mabuchi A, Kotani A, Kawakami A, Yamamoto S, Uchida A, Nakamura K, Notoya K, Nakamura Y, Ikegawa S (2005) An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet 37:138–144.PubMedGoogle Scholar
  42. 42.
    Klatt AR, Nitsche DP, Kobbe B, Morgelin M, Paulsson M, Wagener R (2000) Molecular structure and tissue distribution of matrilin-3, a filament-forming extracellular matrix protein expressed during skeletal development. J Biol Chem 275:3999–4006.PubMedGoogle Scholar
  43. 43.
    Koller DL, Rodriguez LA, Christian JC, Slemenda CW, Econs MJ, Hui SL, Morin P, Conneally PM, Joslyn G, Curran ME, Peacock M, Johnston CC, Foroud T (1998) Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12–13. J Bone Miner Res 13: 1903–1908.PubMedGoogle Scholar
  44. 44.
    Lane NE, Lian K, Nevitt MC, Zmuda JM, Lui L, Li J, Wang J, Fontecha M, Umblas N, Rosenbach M, de LP, Corr M (2006) Frizzled-related protein variants are risk factors for hip osteoarthritis. Arthritis Rheum 54:1246–1254.PubMedGoogle Scholar
  45. 45.
    Lanyon P, Muir K, Doherty S, Doherty M (2000) Assessment of a genetic contribution to osteoarthritis of the hip: sibling study. BMJ 321:1179–1183.PubMedGoogle Scholar
  46. 46.
    Lark MW, Bayne EK, Flanagan J, Harper CF, Hoerrner LA, Hutchinson NI, Singer II, Donatelli SA, Weidner JR, Williams HR, Mumford RA, Lohmander LS (1997) Aggrecan degradation in human cartilage. Evidence for both matrix metalloproteinase and aggrecanase activity in normal, osteoarthritic, and rheumatoid joints. J Clin Invest 100:93–106.PubMedGoogle Scholar
  47. 47.
    Leonhardt H, Cardoso MC (2000) DNA methylation, nuclear structure, gene expression and cancer 1. J Cell Biochem Suppl 35:78–83.PubMedGoogle Scholar
  48. 48.
    Leppavuori J, Kujala U, Kinnunen J, Kaprio J, Nissila M, Heliovaara M, Klinger N, Partanen J, Terwilliger JD, Peltonen L (1999) Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q. Am J Hum Genet 65:1060–1067.PubMedGoogle Scholar
  49. 49.
    Loughlin J (2001) Genetic epidemiology of primary osteoarthritis. Curr Opin Rheumatol 13:111–116.PubMedGoogle Scholar
  50. 50.
    Loughlin J (2002) Genome studies and linkage in primary osteoarthritis. Rheum Dis Clin North Am 28:95–109.PubMedGoogle Scholar
  51. 51.
    Loughlin J, Dowling B, Chapman K, Marcelline L, Mustafa Z, Southam L, Ferreira A, Ciesielski C, Carson DA, Corr M (2004) Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females. Proc Natl Acad Sci U S A 101:9757–9762.PubMedGoogle Scholar
  52. 52.
    Loughlin J, Dowling B, Mustafa Z, Chapman K (2002) Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis. Arthritis Rheum 46:1519–1527.PubMedGoogle Scholar
  53. 53.
    Loughlin J, Dowling B, Mustafa Z, Southam L, Chapman K (2002) Refined linkage mapping of a hip osteoarthritis susceptibility locus on chromosome 2q. Rheumatology (Oxford) 41:955–956.Google Scholar
  54. 54.
    Loughlin J, Mustafa Z, Dowling B, Southam L, Marcelline L, Raina SS, la-Kokko L, Chapman K (2002) Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6. Eur J Hum Genet 10:562–568.PubMedGoogle Scholar
  55. 55.
    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. Am J Hum Genet 65:1795–1798.PubMedGoogle Scholar
  56. 56.
    Loughlin J, Sinsheimer JS, Carr A, Chapman K (2006) The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population. Osteoarthritis Cartilage 14:295–298.PubMedGoogle Scholar
  57. 57.
    Loughlin J, Sinsheimer JS, Mustafa Z, Carr AJ, Clipsham K, Bloomfield VA, Chitnavis J, Bailey A, Sykes B, Chapman K (2000) Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis. J Rheumatol 27:779–784.PubMedGoogle Scholar
  58. 58.
    Lu A, Gupta A, Li C, Ahlborn TE, Ma Y, Shi EY, Liu J (2001) Molecular mechanisms for aberrant expression of the human breast cancer specific gene 1 in breast cancer cells: control of transcription by DNA methylation and intronic sequences. Oncogene 20:5173–5185.PubMedGoogle Scholar
  59. 59.
    McDowell TL, Symons JA, Ploski R, Forre O, Duff GW (1995) A genetic association between juvenile rheumatoid arthritis and a novel interleukin-1 alpha polymorphism. Arthritis Rheum 38:221–228.PubMedGoogle Scholar
  60. 60.
    Meenagh GK, McGibbon D, Nixon J, Wright GD, Doherty M, Hughes AE (2005) Lack of support for the presence of an osteoarthritis susceptibility locus on chromosome 6p. Arthritis Rheum 52:2040–2043.PubMedGoogle Scholar
  61. 61.
    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.PubMedGoogle Scholar
  62. 62.
    Meulenbelt I, Seymour AB, Nieuwland M, Huizinga TW, Van Duijn CM, Slagboom PE (2004) Association of the interleukin-1 gene cluster with radiographic signs of osteoarthritis of the hip. Arthritis Rheum 50:1179–1186.PubMedGoogle Scholar
  63. 63.
    Millward-Sadler SJ, Wright MO, Lee H, Nishida K, Caldwell H, Nuki G, Salter DM (1999) Integrin-regulated secretion of interleukin 4: a novel pathway of mechanotransduction in human articular chondrocytes. J Cell Biol 145:183–189.PubMedGoogle Scholar
  64. 64.
    Min JL, Meulenbelt I, Riyazi N, Kloppenburg M, Houwing-Duistermaat JJ, Seymour AB, Pols HA, Van Duijn CM, Slagboom PE (2005) Association of the Frizzled-related protein gene with symptomatic osteoarthritis at multiple sites. Arthritis Rheum 52:1077–1080.PubMedGoogle Scholar
  65. 65.
    Min JL, Meulenbelt I, Riyazi N, Kloppenburg M, Houwing-Duistermaat JJ, Seymour AB, Van Duijn CM, Slagboom PE (2006) Association of matrilin-3 polymorphisms with spinal disc degeneration and with osteoarthritis of the CMC1 joint of the hand. Ann Rheum Dis 65:1060–1066.PubMedGoogle Scholar
  66. 66.
    Mototani H, Mabuchi A, Saito S, Fujioka M, Iida A, Takatori Y, Kotani A, Kubo T, Nakamura K, Sekine A, Murakami Y, Tsunoda T, Notoya K, Nakamura Y, Ikegawa S (2005) A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese. Hum Mol Genet 14:1009–1017.PubMedGoogle Scholar
  67. 67.
    Mustafa Z, Dowling B, Chapman K, Sinsheimer JS, Carr A, Loughlin J (2005) Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population. Arthritis Rheum 52:3502–3506.PubMedGoogle Scholar
  68. 68.
    Neame RL, Muir K, Doherty S, Doherty M (2004) Genetic risk of knee osteoarthritis: a sibling study. Ann Rheum Dis 63:1022–1027.PubMedGoogle Scholar
  69. 69.
    Nephew KP, Huang TH (2003) Epigenetic gene silencing in cancer initiation and progression. Cancer Lett 190:125–133.PubMedGoogle Scholar
  70. 70.
    Okada Y, Shinmei M, Tanaka O, Naka K, Kimura A, Nakanishi I, Bayliss MT, Iwata K, Nagase H (1992) Localization of matrix metalloproteinase 3 (stromelysin) in osteoarthritic cartilage and synovium. Lab Invest 66:680–690.PubMedGoogle Scholar
  71. 71.
    Okano M, Xie S, Li E (1998) Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases. Nat Genet 19:219–220.PubMedGoogle Scholar
  72. 72.
    Pelletier JP, Martel-Pelletier J, Abramson SB (2001) Osteoarthritis, an inflammatory disease: potential implication for the selection of new therapeutic targets. Arthritis Rheum 44:1237–1247.PubMedGoogle Scholar
  73. 73.
    Petronis A (2001) Human morbid genetics revisited: relevance of epigenetics. Trends Genet 17:142–146.PubMedGoogle Scholar
  74. 74.
    Poschl E, Fidler A, Schmidt B, Kallipolitou A, Schmid E, Aigner T (2005) DNA methylation is not likely to be responsible for aggrecan down regulation in aged or osteoarthritic cartilage. Ann Rheum Dis 64: 477–480.PubMedGoogle Scholar
  75. 75.
    Pradhan S, Esteve PO (2003) Mammalian DNA (cytosine-5) methyltransferases and their expression. Clin Immunol 109:6–16.PubMedGoogle Scholar
  76. 76.
    Pullig O, Weseloh G, Klatt AR, Wagener R, Swoboda B (2002) Matrilin-3 in human articular cartilage: increased expression in osteoarthritis. Osteoarthritis Cartilage 10:253–263.PubMedGoogle Scholar
  77. 77.
    Riyazi N, Meulenbelt I, Kroon HM, Ronday KH, Hellio Le Graverand MP, Rosendaal FR, Breedveld FC, Slagboom PE, Kloppenburg M (2005) Evidence for familial aggregation of hand, hip, and spine but not knee osteoarthritis in siblings with multiple joint involvement: the GARP study. Ann Rheum Dis 64:438–443.PubMedGoogle Scholar
  78. 78.
    Roach HI, Inglis S, Partridge KA, Clarke NMP, Oreffo ROC, Bronner F. (2005) Can changes in the DNA methylation pattern explain the clonally inherited altered phenotype of osteoarthritic chondrocytes? Proceedings of the 8th International Conference on the Chemistry and Biology of Mineralized Tissues, Banff, Canada, pp. 192–195.Google Scholar
  79. 79.
    Roach HI, Yamada N, Cheung KS, Tilley S, Clarke NM, Oreffo RO, Kokubun S, Bronner F (2005) Association between the abnormal expression of matrix-degrading enzymes by human osteoarthritic chondrocytes and demethylation of specific CpG sites in the promoter regions. Arthritis Rheum 52: 3110–3124.PubMedGoogle Scholar
  80. 80.
    Rountree MR, Bachman KE, Herman JG, Baylin SB (2001) DNA methylation, chromatin inheritance, and cancer. Oncogene 20:3156–3165.PubMedGoogle Scholar
  81. 81.
    Sandell LJ, Aigner T (2001) Articular cartilage and changes in arthritis. An introduction: cell biology of osteoarthritis. Arthritis Res 3:107–113.PubMedGoogle Scholar
  82. 82.
    Sandy JD, Verscharen C (2001) Analysis of aggrecan in human knee cartilage and synovial fluid indicates that aggrecanase (ADAMTS) activity is responsible for the catabolic turnover and loss of whole aggrecan whereas other protease activity is required for C-terminal processing in vivo. Biochem J 358: 615–626.PubMedGoogle Scholar
  83. 83.
    Shlopov BV, Gumanovskaya ML, Hasty KA (2000) Autocrine regulation of collagenase 3 (matrix metalloproteinase 13) during osteoarthritis. Arthritis Rheum 43:195–205.PubMedGoogle Scholar
  84. 84.
    Smith AJ, Elson CJ, Perry MJ, Bidwell JL (2005) Accuracy of haplotype association studies is enhanced by increasing number of polymorphic loci examined: comment on the article by Meulenbelt et al. Arthritis Rheum 52:675–676.PubMedGoogle Scholar
  85. 85.
    Smith AJ, Gidley J, Sandy JR, Perry MJ, Elson CJ, Kirwan JR, Spector TD, Doherty M, Bidwell JL, Mansell JP (2005) Haplotypes of the low-density lipoprotein receptor-related protein 5 (LRP5) gene: are they a risk factor in osteoarthritis? Osteoarthritis Cartilage 13:608–613.PubMedGoogle Scholar
  86. 86.
    Smith AJ, Keen LJ, Billingham MJ, Perry MJ, Elson CJ, Kirwan JR, Sims JE, Doherty M, Spector TD, Bidwell JL (2004) Extended haplotypes and linkage disequilibrium in the IL1R1-IL1A-IL1B-IL1RN gene cluster: association with knee osteoarthritis. Genes Immun 5:451–460.PubMedGoogle Scholar
  87. 87.
    Southam L, Dowling B, Ferreira A, Marcelline L, Mustafa Z, Chapman K, Bentham G, Carr A, Loughlin J (2004) Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13. Arthritis Rheum 50:3910–3914.PubMedGoogle Scholar
  88. 88.
    Spector TD, Macgregor AJ (2004) Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage 12 (suppl A):S39–S44.PubMedGoogle Scholar
  89. 89.
    Spector TD, Reneland RH, Mah S, Valdes AM, Hart DJ, Kammerer S, Langdown M, Hoyal CR, Atienza J, Doherty M, Rahman P, Nelson MR, Braun A (2006) Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling. Arthritis Rheum 54:524–532.PubMedGoogle Scholar
  90. 90.
    Stankovich J, Sale MM, Cooley HM, Bahlo M, Reilly A, Dickinson JL, Jones G (2002) Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population. Ann Rheum Dis 61:1081–1084.PubMedGoogle Scholar
  91. 91.
    Stefansson SE, Jonsson H, Ingvarsson T, Manolesc I, Jonsson HH, Olafsdottir G, Palsdottir E, Stefansdottir G, Sveinbjornsdottir G, Frigge ML, Kong A, Gulcher JR, Stefansson K (2003) Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. Am J Hum Genet 72:1448–1459.PubMedGoogle Scholar
  92. 92.
    Stern AG, de Carvalho MR, Buck GA, Adler RA, Rao TP, Disler D, Moxley G (2003) Association of erosive hand osteoarthritis with a single nucleotide polymorphism on the gene encoding interleukin-1 beta. Osteoarthritis Cartilage 11:394–402.PubMedGoogle Scholar
  93. 93.
    Stretcher R (1941) Herberden’s nodes: heredity in hypertrophic arthritis of the finger joints. Am J Med Sci 210:801–809.Google Scholar
  94. 94.
    Szyf M (2003) Targeting DNA methylation in cancer. Ageing Res Rev 2:299–328.PubMedGoogle Scholar
  95. 95.
    Tamada H, Kitazawa R, Gohji K, Kitazawa S (2001) Epigenetic regulation of human bone morphogenetic protein 6 gene expression in prostate cancer. J Bone Miner Res 16:487–496.PubMedGoogle Scholar
  96. 96.
    Tetlow LC, Adlam DJ, Woolley DE (2001) Matrix metalloproteinase and proinflammatory cytokine production by chondrocytes of human osteoarthritic cartilage: associations with degenerative changes. Arthritis Rheum 44:585–594.PubMedGoogle Scholar
  97. 97.
    Tsujiuchi T, Tsutsumi M, Sasaki Y, Takahama M, Konishi Y (1999) Hypomethylation of CpG sites and c-myc gene overexpression in hepatocellular carcinomas, but not hyperplastic nodules, induced by a choline-deficient L-amino acid-defined diet in rats. Jpn J Cancer Res 90:909–913.PubMedGoogle Scholar
  98. 98.
    Uitterlinden AG, Burger H, Huang Q, Odding E, Duijn CM, Hofman A, Birkenhager JC, van Leeuwen JP, Pols HA (1997) Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee. J Clin Invest 100:259–263.PubMedGoogle Scholar
  99. 99.
    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 43:1456–1464.PubMedGoogle Scholar
  100. 100.
    Ushiyama T, Ueyama H, Inoue K, Nishioka J, Ohkubo I, Hukuda S (1998) Estrogen receptor gene polymorphism and generalized osteoarthritis. J Rheumatol 25:134–137.PubMedGoogle Scholar
  101. 101.
    Valdes AM, Hart DJ, Jones KA, Surdulescu G, Swarbrick P, Doyle DV, Schafer AJ, Spector TD (2004) Association study of candidate genes for the prevalence and progression of knee osteoarthritis. Arthritis Rheum 50:2497–2507.PubMedGoogle Scholar
  102. 102.
    Valdes AM, Van OM, Hart DJ, Surdulescu GL, Loughlin J, Doherty M, Spector TD (2006) Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. Arthritis Rheum 54:533–539.PubMedGoogle Scholar
  103. 103.
    Walter H, Kawashima A, Nebelung W, Neumann W, Roessner A (1998) Immunohistochemical analysis of several proteolytic enzymes as parameters of cartilage degradation. Pathol Res Pract 194: 73–81.PubMedGoogle Scholar
  104. 104.
    Wang X, Manner PA, Horner A, Shum L, Tuan RS, Nuckolls GH (2004) Regulation of MMP-13 expression by RUNX2 and FGF2 in osteoarthritic cartilage. Osteoarthritis Cartilage 12: 963–973.PubMedGoogle Scholar
  105. 105.
    Wong AH, Gottesman II, Petronis A (2005) Phenotypic differences in genetically identical organisms: the epigenetic perspective. Hum Mol Genet 14(spec. no. 1):R11–R18.PubMedGoogle Scholar
  106. 106.
    Wright GD, Hughes AE, Regan M, Doherty M (1996) Association of two loci on chromosome 2q with nodal osteoarthritis. Ann Rheum Dis 55:317–319.PubMedGoogle Scholar
  107. 107.
    Wu W, Billinghurst RC, Pidoux I, Antoniou J, Zukor D, Tanzer M, Poole AR (2002) Sites of collagenase cleavage and denaturation of type II collagen in aging and osteoarthritic articular cartilage and their relationship to the distribution of matrix metalloproteinase 1 and matrix metalloproteinase 13. Arthritis Rheum 46:2087–2094.PubMedGoogle Scholar
  108. 108.
    Yamada Y (2000) Association of a Leu(10)–>Pro polymorphism of the transforming growth factor-beta1 with genetic susceptibility to osteoporosis and spinal osteoarthritis. Mech Ageing Dev 116: 113–123.PubMedGoogle Scholar

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© Springer-Verlag London Limited 2007

Authors and Affiliations

  • Kay E. Chapman
  • Helmtrud I Roach

There are no affiliations available

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