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Volumn 20, Issue 12, 2012, Pages 1470-1476

Osteoarthritis year 2012 in review: Genetics and genomics

Author keywords

DNA variants; Genetics; Genomics; Osteoarthritis

Indexed keywords

PURINERGIC P2X7 RECEPTOR; SMAD3 PROTEIN; VANILLOID RECEPTOR 4;

EID: 84867891001     PISSN: 10634584     EISSN: 15229653     Source Type: Journal    
DOI: 10.1016/j.joca.2012.08.007     Document Type: Review
Times cited : (32)

References (46)
  • 5
    • 80053385922 scopus 로고    scopus 로고
    • Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans
    • de Pontual L., Yao E., Callier P., Faivre L., Drouin V., Cariou S., et al. Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans. Nat Genet 2011, 43:1026-1030.
    • (2011) Nat Genet , vol.43 , pp. 1026-1030
    • de Pontual, L.1    Yao, E.2    Callier, P.3    Faivre, L.4    Drouin, V.5    Cariou, S.6
  • 7
    • 66449089103 scopus 로고    scopus 로고
    • Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand
    • Evangelou E., Chapman K., Meulenbelt I., Karassa F.B., Loughlin J., Carr A., et al. Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. Arthritis Rheum 2009, 60:1710-1721.
    • (2009) Arthritis Rheum , vol.60 , pp. 1710-1721
    • Evangelou, E.1    Chapman, K.2    Meulenbelt, I.3    Karassa, F.B.4    Loughlin, J.5    Carr, A.6
  • 8
    • 33748707404 scopus 로고    scopus 로고
    • Osteoarthritis susceptibility loci defined by genome scan meta-analysis
    • Lee Y.H., Rho Y.H., Choi S.J., Ji J.D., Song G.G. Osteoarthritis susceptibility loci defined by genome scan meta-analysis. Rheumatol Int 2006, 26:959-963.
    • (2006) Rheumatol Int , vol.26 , pp. 959-963
    • Lee, Y.H.1    Rho, Y.H.2    Choi, S.J.3    Ji, J.D.4    Song, G.G.5
  • 9
    • 78650977864 scopus 로고    scopus 로고
    • Genetic epidemiology of hip and knee osteoarthritis
    • Valdes A.M., Spector T.D. Genetic epidemiology of hip and knee osteoarthritis. Nat Rev Rheumatol Jan 2011, 7(1):23-32.
    • (2011) Nat Rev Rheumatol , vol.7 , Issue.1 , pp. 23-32
    • Valdes, A.M.1    Spector, T.D.2
  • 10
    • 0030763771 scopus 로고    scopus 로고
    • Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
    • Thomas J.T., Kilpatrick M.W., Lin K., Erlacher L., Lembessis P., Costa T., et al. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet 1997, 17:58-64.
    • (1997) Nat Genet , vol.17 , pp. 58-64
    • Thomas, J.T.1    Kilpatrick, M.W.2    Lin, K.3    Erlacher, L.4    Lembessis, P.5    Costa, T.6
  • 12
    • 34047103363 scopus 로고    scopus 로고
    • A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis
    • Miyamoto Y., Mabuchi A., Shi D., Kubo T., Takatori Y., Saito S., et al. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet 2007, 39:529-533.
    • (2007) Nat Genet , vol.39 , pp. 529-533
    • Miyamoto, Y.1    Mabuchi, A.2    Shi, D.3    Kubo, T.4    Takatori, Y.5    Saito, S.6
  • 13
    • 70449729925 scopus 로고    scopus 로고
    • Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: the Rotterdam study
    • Vaes R.B., Rivadeneira F., Kerkhof J.M., Hofman A., Pols H.A., Uitterlinden A.G., et al. Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: the Rotterdam study. Ann Rheum Dis 2009, 68:1754-1760.
    • (2009) Ann Rheum Dis , vol.68 , pp. 1754-1760
    • Vaes, R.B.1    Rivadeneira, F.2    Kerkhof, J.M.3    Hofman, A.4    Pols, H.A.5    Uitterlinden, A.G.6
  • 14
    • 78650988509 scopus 로고    scopus 로고
    • The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome-wide statistical significance
    • Valdes A.M., Evangelou E., Kerkhof H.J., Tamm A., Doherty S.A., Kisand K., et al. The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome-wide statistical significance. Ann Rheum Dis 2011, 70:873-875.
    • (2011) Ann Rheum Dis , vol.70 , pp. 873-875
    • Valdes, A.M.1    Evangelou, E.2    Kerkhof, H.J.3    Tamm, A.4    Doherty, S.A.5    Kisand, K.6
  • 15
    • 84861614905 scopus 로고    scopus 로고
    • A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
    • Manning A.K., Hivert M.F., Scott R.A., Grimsby J.L., Bouatia-Naji N., Chen H., et al. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet 2012, 44:659-669.
    • (2012) Nat Genet , vol.44 , pp. 659-669
    • Manning, A.K.1    Hivert, M.F.2    Scott, R.A.3    Grimsby, J.L.4    Bouatia-Naji, N.5    Chen, H.6
  • 16
    • 79953221100 scopus 로고    scopus 로고
    • A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
    • Coronary Artery Disease (C4D) Genetics Consortium
    • A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat Genet 2011, 43:339-344. Coronary Artery Disease (C4D) Genetics Consortium.
    • (2011) Nat Genet , vol.43 , pp. 339-344
  • 17
    • 79953204259 scopus 로고    scopus 로고
    • Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
    • Schunkert H., Konig I.R., Kathiresan S., Reilly M.P., Assimes T.L., Holm H., et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011, 43:333-338.
    • (2011) Nat Genet , vol.43 , pp. 333-338
    • Schunkert, H.1    Konig, I.R.2    Kathiresan, S.3    Reilly, M.P.4    Assimes, T.L.5    Holm, H.6
  • 18
    • 77957947562 scopus 로고    scopus 로고
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height
    • Lango Allen H., Estrada K., Lettre G., Berndt S.I., Weedon M.N., Rivadeneira F., et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010, 467:832-838.
    • (2010) Nature , vol.467 , pp. 832-838
    • Lango Allen, H.1    Estrada, K.2    Lettre, G.3    Berndt, S.I.4    Weedon, M.N.5    Rivadeneira, F.6
  • 19
    • 84867880590 scopus 로고    scopus 로고
    • Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study
    • [epub ahead of print], arcOGEN Consortium and arcOGEN Collaborators
    • arcOGEN Consortium and arcOGEN Collaborators Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 2012 July 2, [epub ahead of print].
    • (2012) Lancet
  • 20
    • 65249164859 scopus 로고    scopus 로고
    • Validating, augmenting and refining genome-wide association signals
    • Ioannidis J.P., Thomas G., Daly M.J. Validating, augmenting and refining genome-wide association signals. Nat Rev Genet 2009, 10:318-329.
    • (2009) Nat Rev Genet , vol.10 , pp. 318-329
    • Ioannidis, J.P.1    Thomas, G.2    Daly, M.J.3
  • 21
    • 79951853292 scopus 로고    scopus 로고
    • Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: the TREAT-OA consortium
    • Kerkhof H.J., Meulenbelt I., Akune T., Arden N.K., Aromaa A., Bierma-Zeinstra S.M., et al. Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: the TREAT-OA consortium. Osteoarthritis Cartilage 2011, 19:254-264.
    • (2011) Osteoarthritis Cartilage , vol.19 , pp. 254-264
    • Kerkhof, H.J.1    Meulenbelt, I.2    Akune, T.3    Arden, N.K.4    Aromaa, A.5    Bierma-Zeinstra, S.M.6
  • 22
    • 0038823525 scopus 로고    scopus 로고
    • The endophenotype concept in psychiatry: etymology and strategic intentions
    • Gottesman I.I., Gould T.D. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 2003, 160:636-645.
    • (2003) Am J Psychiatry , vol.160 , pp. 636-645
    • Gottesman, I.I.1    Gould, T.D.2
  • 23
    • 0141498210 scopus 로고    scopus 로고
    • Novel family-based approaches to genetic risk in thrombosis
    • Blangero J., Williams J.T., Almasy L. Novel family-based approaches to genetic risk in thrombosis. J Thromb Haemost 2003, 1:1391-1397.
    • (2003) J Thromb Haemost , vol.1 , pp. 1391-1397
    • Blangero, J.1    Williams, J.T.2    Almasy, L.3
  • 24
    • 84861422537 scopus 로고    scopus 로고
    • Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis
    • Castano Betancourt M.C., Cailotto F., Kerkhof H.J., Cornelis F.M., Doherty S.A., Hart D.J., et al. Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. Proc Natl Acad Sci USA 2012, 109:8218-8223.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 8218-8223
    • Castano Betancourt, M.C.1    Cailotto, F.2    Kerkhof, H.J.3    Cornelis, F.M.4    Doherty, S.A.5    Hart, D.J.6
  • 25
    • 84862777282 scopus 로고    scopus 로고
    • Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity
    • Sorge R.E., Trang T., Dorfman R., Smith S.B., Beggs S., Ritchie J., et al. Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity. Nat Med 2012, 18:595-599.
    • (2012) Nat Med , vol.18 , pp. 595-599
    • Sorge, R.E.1    Trang, T.2    Dorfman, R.3    Smith, S.B.4    Beggs, S.5    Ritchie, J.6
  • 26
  • 27
    • 67650074525 scopus 로고    scopus 로고
    • Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism
    • Egli R.J., Southam L., Wilkins J.M., Lorenzen I., Pombo-Suarez M., Gonzalez A., et al. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum 2009, 60:2055-2064.
    • (2009) Arthritis Rheum , vol.60 , pp. 2055-2064
    • Egli, R.J.1    Southam, L.2    Wilkins, J.M.3    Lorenzen, I.4    Pombo-Suarez, M.5    Gonzalez, A.6
  • 28
    • 84862565364 scopus 로고    scopus 로고
    • Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues
    • Bos S.D., Bovee J.V., Duijnisveld B.J., Raine E.V., van Dalen W.J., Ramos Y.F., et al. Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues. Ann Rheum Dis 2012, 71:1254-1258.
    • (2012) Ann Rheum Dis , vol.71 , pp. 1254-1258
    • Bos, S.D.1    Bovee, J.V.2    Duijnisveld, B.J.3    Raine, E.V.4    van Dalen, W.J.5    Ramos, Y.F.6
  • 29
    • 75749110202 scopus 로고    scopus 로고
    • A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22
    • Kerkhof H.J., Lories R.J., Meulenbelt I., Jonsdottor I., Valdes A.M., Arp P., et al. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis Rheum 2010, 62:499-510.
    • (2010) Arthritis Rheum , vol.62 , pp. 499-510
    • Kerkhof, H.J.1    Lories, R.J.2    Meulenbelt, I.3    Jonsdottor, I.4    Valdes, A.M.5    Arp, P.6
  • 30
    • 84868466570 scopus 로고    scopus 로고
    • Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22
    • [Epub ahead of print]
    • Raine E.V., Wreglesworth N., Dodd A.W., Reynard L.N., Loughlin J. Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22. Ann Rheum Dis 2012 Jul 6, [Epub ahead of print].
    • (2012) Ann Rheum Dis
    • Raine, E.V.1    Wreglesworth, N.2    Dodd, A.W.3    Reynard, L.N.4    Loughlin, J.5
  • 31
    • 84867887449 scopus 로고    scopus 로고
    • Cog5 inhibition induces glycosylation defects affecting chondrogenesis and interfering with Wnt, but not Bmp signaling
    • Cailotto F., Luyten F.P., Lories R.J. Cog5 inhibition induces glycosylation defects affecting chondrogenesis and interfering with Wnt, but not Bmp signaling. Osteoarthritis Cartilage Apr 2012, 20:S142-S143.
    • (2012) Osteoarthritis Cartilage , vol.20
    • Cailotto, F.1    Luyten, F.P.2    Lories, R.J.3
  • 33
    • 77953469917 scopus 로고    scopus 로고
    • Epigenetics as a unifying principle in the aetiology of complex traits and diseases
    • Petronis A. Epigenetics as a unifying principle in the aetiology of complex traits and diseases. Nature 2010, 465:721-727.
    • (2010) Nature , vol.465 , pp. 721-727
    • Petronis, A.1
  • 34
    • 84855956247 scopus 로고    scopus 로고
    • Epigenetics and the environment: emerging patterns and implications
    • Feil R., Fraga M.F. Epigenetics and the environment: emerging patterns and implications. Nat Rev Genet 2011, 13:97-109.
    • (2011) Nat Rev Genet , vol.13 , pp. 97-109
    • Feil, R.1    Fraga, M.F.2
  • 35
    • 80051693596 scopus 로고    scopus 로고
    • Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation
    • Reynard L.N., Bui C., Canty-Laird E.G., Young D.A., Loughlin J. Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation. Hum Mol Genet 2011, 20:3450-3460.
    • (2011) Hum Mol Genet , vol.20 , pp. 3450-3460
    • Reynard, L.N.1    Bui, C.2    Canty-Laird, E.G.3    Young, D.A.4    Loughlin, J.5
  • 38
    • 79959834855 scopus 로고    scopus 로고
    • Increased interleukin-1beta gene expression in peripheral blood leukocytes is associated with increased pain and predicts risk for progression of symptomatic knee osteoarthritis
    • Attur M., Belitskaya-Levy I., Oh C., Krasnokutsky S., Greenberg J., Samuels J., et al. Increased interleukin-1beta gene expression in peripheral blood leukocytes is associated with increased pain and predicts risk for progression of symptomatic knee osteoarthritis. Arthritis Rheum 2011, 63:1908-1917.
    • (2011) Arthritis Rheum , vol.63 , pp. 1908-1917
    • Attur, M.1    Belitskaya-Levy, I.2    Oh, C.3    Krasnokutsky, S.4    Greenberg, J.5    Samuels, J.6
  • 39
    • 84875381383 scopus 로고    scopus 로고
    • Comparison of osteoarthritis and normal hip cartilage transcriptomes using Rna-Seq reveals new candidate gene targets and associated pathways
    • Xu Y., Barter M.J., Swan D.C., Rankin K.S., Rowan A.D., Santibanez-Koref M., et al. Comparison of osteoarthritis and normal hip cartilage transcriptomes using Rna-Seq reveals new candidate gene targets and associated pathways. Osteoarthritis Cartilage 2012, 20:S43.
    • (2012) Osteoarthritis Cartilage , vol.20
    • Xu, Y.1    Barter, M.J.2    Swan, D.C.3    Rankin, K.S.4    Rowan, A.D.5    Santibanez-Koref, M.6
  • 40
    • 84875381401 scopus 로고    scopus 로고
    • Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review
    • [epub ahead of print]
    • Husar-Memmer E., Ekici A., Al Kaissi A., Sticht H., Mager B., Schett G., et al. Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review. Semin Arthritis Rheum June 2012, 2012. [epub ahead of print].
    • (2012) Semin Arthritis Rheum , vol.2012
    • Husar-Memmer, E.1    Ekici, A.2    Al Kaissi, A.3    Sticht, H.4    Mager, B.5    Schett, G.6
  • 41
    • 23944438868 scopus 로고    scopus 로고
    • A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis
    • Gleghorn L., Ramesar R., Beighton P., Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet 2005, 77:484-490.
    • (2005) Am J Hum Genet , vol.77 , pp. 484-490
    • Gleghorn, L.1    Ramesar, R.2    Beighton, P.3    Wallis, G.4
  • 42
    • 84857688692 scopus 로고    scopus 로고
    • Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
    • Jackson G.C., Mittaz-Crettol L., Taylor J.A., Mortier G.R., Spranger J., Zabel B., et al. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 2012, 33:144-157.
    • (2012) Hum Mutat , vol.33 , pp. 144-157
    • Jackson, G.C.1    Mittaz-Crettol, L.2    Taylor, J.A.3    Mortier, G.R.4    Spranger, J.5    Zabel, B.6
  • 45
    • 48349105759 scopus 로고    scopus 로고
    • Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis
    • Miyamoto Y., Shi D., Nakajima M., Ozaki K., Sudo A., Kotani A., et al. Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis. Nat Genet 2008, 40:994-998.
    • (2008) Nat Genet , vol.40 , pp. 994-998
    • Miyamoto, Y.1    Shi, D.2    Nakajima, M.3    Ozaki, K.4    Sudo, A.5    Kotani, A.6
  • 46
    • 78149408549 scopus 로고    scopus 로고
    • New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study
    • Nakajima M., Takahashi A., Kou I., Rodriguez-Fontenla C., Gomez-Reino J.J., Furuichi T., et al. New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study. PLoS One 2010, 5:e9723.
    • (2010) PLoS One , vol.5
    • Nakajima, M.1    Takahashi, A.2    Kou, I.3    Rodriguez-Fontenla, C.4    Gomez-Reino, J.J.5    Furuichi, T.6


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