The genetics and functional analysis of primary osteoarthritis susceptibility

Expert Reviews in Molecular Medicine

Volumn 15, Issue , 2013, Pages

  Reynard, Louise N ^a   Loughlin, John ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSCRIPTION FACTOR RUNX2; GDF5 PROTEIN, HUMAN; GROWTH DIFFERENTIATION FACTOR 5; SMAD3 PROTEIN; SMAD3 PROTEIN, HUMAN;

ALLELE; ARTICLE; CHST11 GENE; DNA INTEGRATION; DNA METHYLATION; EPIGENETICS; ETHNICITY; GENE; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; OSTEOARTHRITIS; PRIORITY JOURNAL; RUNX2 GENE; SEX DIFFERENCE; TRANSCRIPTOMICS; ANIMAL; GENE LOCUS; GENETIC EPIGENESIS; GENETIC PREDISPOSITION; GENETICS; METABOLISM; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; EPIGENESIS, GENETIC; GENE EXPRESSION; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GROWTH DIFFERENTIATION FACTOR 5; HUMANS; OSTEOARTHRITIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SMAD3 PROTEIN;

MLCS; MLOWN;

EID: 84874041956     PISSN: 14623994     EISSN: None     Source Type: Journal    
DOI: 10.1017/erm.2013.4     Document Type: Article

References (67)

1. Brandt, K.D., Dieppe, P. and Radin, E.L. (2008) Etiopathogenesis of osteoarthritis. Rheumatic Disease Clinics of North America 34, 531-559
2. Loeser, R.F. et al. (2012) Osteoarthritis: A disease of the joint as an organ. Arthritis and Rheumatism 64, 1697-1707
3. Bennell, K.L., Hunter, D.J. and Hinman, R.S. (2012) Management of osteoarthritis of the knee. British Medical Journal 345, e4934
4. Pereira, D. et al. (2011) The effect of osteoarthritis definition on prevalence and incidence estimates: A systematic review. Osteoarthritis and Cartilage 19, 1270-1285
5. Nüesch, E. et al. (2011) All cause and disease specific mortality in patients with knee or hip osteoarthritis: population based cohort study. British Medical Journal 342, d1165
6. Loughlin, J. (2002) Genome studies and linkage in primary osteoarthritis. Rheumatic Disease Clinics of North America 28, 95-109
7. Chapman, K. et al. (2008) A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5?UTR of GDF5 with osteoarthritis susceptibility. Human Molecular Genetics 17, 1497-1504
8. Evangelou, E. et al. (2009) Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee and hand. Arthritis and Rheumatism 60, 1710-1721
9. Valdes, A.M. et al. (2011) The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome-wide statistical significance. Annals of the Rheumatic Diseases 70, 873-875
10. Valdes, A.M. et al. (2010) Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis. Arthritis and Rheumatism 62, 2347-2352
11. Nakamura, T. et al. (2007) Meta-analysis of association between the ASPN D-repeat and osteoarthritis. Human Molecular Genetics 16, 1676-1681
12. Mototani, H. et al. (2008) A functional SNP in EDG2 increases susceptibility to knee osteoarthritis in Japanese. Human Molecular Genetics 17, 1790-1797
13. Dieguez-Gonzalez, R. et al. (2009) Testing the druggable endothelial differentiation gene 2 knee osteoarthritis genetic factor for replication in a wide range of sample collections. Annals of the Rheumatic Diseases 68, 1017-1021
14. Mototani, H. et al. (2005) A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese. Human Molecular Genetics 14, 1009-1017
15. Loughlin, J. et al. (2006) The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population. Osteoarthritis and Cartilage 14, 295-298
16. Meulenbelt, I. et al. (2008) Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis. Human Molecular Genetics 17, 1867-1875
17. Meulenbelt, I. et al. (2011) Meta-analysis of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility. Annals of the Rheumatic Diseases 70, 164-167
18. Kostopoulou, F. et al. (2012) Central role of SREBP-2 in the pathogenesis of osteoarthritis. PLoS ONE 7, e35753
19. Loughlin, J. (2011) Genetics of osteoarthritis. Current Opinion in Rheumatology 23, 479-483
20. van de Laar, I.M. et al. (2011) Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nature Genetics 43, 121-126
21. Kerkhof, H.J. et al. (2010) A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis and Rheumatism 62, 499-510
22. Nakajima, M. et al. (2010) New sequence variants in HLAclass II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study. PLoS ONE 5, e9723
23. Panoutsopoulou, K. et al. (2011) Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Annals of the Rheumatic Diseases 70, 864-867
24. arcOGEN Consortium and arcOGEN collaborators. (2012) Identification of new susceptibility loci for osteoarthritis (arcOGEN): A genome-wide association study. Lancet 380, 815-823
25. Evangelou, E. et al. (2011) Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Annals of the Rheumatic Diseases 70, 349-355
26. Day-Williams, A.G. et al. (2011) Avariant in MCF2L is associated with osteoarthritis. American Journal of Human Genetics 89, 446-450
27. Blanco, F.J., Rego, I., Ruiz-Romero, C. (2011) The role of mitochondria in osteoarthritis. Nature Reviews. Rheumatology 7, 161-169
28. Hudson, G. et al. (2013) No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls. Annals of the Rheumatic Diseases 72, 136-139
29. Sanna, S. et al. (2008) Common variants in the GDF5-UGCCregion are associated with variation inhuman height. Nature Genetics 40, 198-203
30. Wu, D.D. et al. (2012) Positive selection on the osteoarthritis-risk and decreased-height associated variants at the GDF5 gene in east Asians. PLoS ONE 7, e42553
31. Elliott, K.S. et al. Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data. Annals of the Rheumatic Diseases (in press) http:// www.ncbi.nlm.nih.gov/pubmed/22956599
32. Miyamoto, Y. et al. (2007) A functional polymorphism in the 5?UTR of GDF5 is associated with susceptibility to osteoarthritis. Nature Genetics 39, 529-533
33. Southam, L. et al. (2007) An SNP in the 5?UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Human Molecular Genetics 16, 2226-2232
34. Egli, R. et al. (2009) Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis and Rheumatism 60, 2055-2064
35. Syddall, C.M. et al. (2012) The identification of transacting factors that differentially regulate the expression of GDF5 via the osteoarthritis associated SNP rs143383. Osteoarthritis and Cartilage 20 (Suppl 1), S46
36. Dodd, A.W. et al. (2011) Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus. Osteoarthritis and Cartilage 19, 430-434
37. Dodd, A.W., Syddall, C.M. and Loughlin, J. A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site than can be manipulated to modulate GDF5 expression. European Journal of Human Genetics (in press) http:// www.ncbi.nlm.nih.gov/pubmed/22929025
38. Barter, M.J., Bui, C. and Young, D.A. (2012) Epigenetic mechanisms in cartilage and osteoarthritis: DNA methylation, histone modifications and microRNAs. Osteoarthritis and Cartilage 20, 339-349
39. Swingler, T.E. et al. (2012) The expression and function of microRNAs in chondrogenesis and osteoarthritis. Arthritis and Rheumatism 64, 1909-1919
40. Reynard, L.N. et al. (2011) Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation. Human Molecular Genetics 20, 3450-3460
41. Daans, M., Luyten, F.P. and Lories, R.J. (2011) GDF5 deficiency in mice is associated with instabilitydriven joint damage, gait and subchondral bone changes. Annals of the Rheumatic Diseases 70, 208-213
42. Raine, E.V. et al. (2012) Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22. Annals of the Rheumatic Diseases 71, 2020-2027
43. Bos, S.D. et al. (2012) Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues. Annals of the Rheumatic Diseases 71, 1254-1258
44. den Hollander, W. et al. (2012) CpG sites of osteoarthritis susceptibility gene DIO2 are differentially methylated in arthritic compared to preserved cartilage. Osteoarthritis and Cartilage 20 (Suppl 1), S196
45. Montgomery, S.B. and Dermitzakis, E.T. (2011) From expression QTLs to personalized transcriptomics. Nature Reviews. Genetics 12, 277-282
46. Rodriguez-Fontenla, C. et al. (2012) Genetic risk load and age at symptom onset of knee osteoarthritis. Journal of Orthopaedic Research 30, 905-909
47. Nelson, M.R. et al. (2012) An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 337, 100-104
48. Keinan, A. and Clark, A.G. (2012) Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336, 740-743
49. Tennessen, J.A. et al. (2012) Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69
50. Castaño Betancourt, M.C. et al. (2012) Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. Proceedings of the National Academy of Sciences of the United States of America 109, 8218-8223
51. Seidel, M.F. and Lane, N.E. (2012) Control of arthritis pain with anti-nerve-growth factor: risk and benefit. Current Rheumatology Reports 14, 583-588
52. Sorge, R.E. et al. (2012) Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity. Nature Medicine 18, 595-599
53. Malfait, A.M. et al. (2012) A role for PACE4 in osteoarthritis pain: evidence from human genetic association and null mutant phenotype. Annals of the Rheumatic Diseases 71, 1042-1048
54. Valdes, A.M. et al. (2011) The Ile585Val TRPV1 variant is involved in risk of painful knee osteoarthritis. Annals of the Rheumatic Diseases 70, 1556-1561
55. Geyer, M. et al. (2009) Differential transcriptome analysis of intraarticular lesional vs intact cartilage reveals new candidate genes on osteoarthritis pathophysiology. Osteoarthritis and Cartilage 17, 328-335
56. Sánchez-Sabaté, E. et al. (2009) Identification of differentially expressed genes in trabecular bone from the iliac crest of osteoarthritic patients. Osteoarthritis and Cartilage 17, 1106-1114
57. Karlsson, C. et al. (2010) Genome-wide expression profiling reveals new candidate genes associated with osteoarthritis. Osteoarthritis and Cartilage 18, 581-592
58. Xu, Y. et al. (2012) Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonalityand discord between hip and kneeOA. Osteoarthritis and Cartilage 20, 1029-1038
59. Del Rey, M.J. et al. (2012) Transcriptome analysis reveals specific changes in osteoarthritis synovial fibroblasts. Annals of the Rheumatic Diseases 71, 275-280
60. Leijten, J.C. et al. (2012) Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis. Arthritis and Rheumatism 64, 3302-3312
61. Ozsolak, F. and Milos, P.M. (2012) RNA sequencing: advances, challenges and opportunities. Nature Review. Genetics 12, 87-98
62. Xu, Y. et al. (2012) Comparison of osteoarthritis and normal hip cartilage transcriptomes using RNA-seq reveals new candidate gene targets and associated pathways. Osteoarthritis and Cartilage 20 (Suppl 1), S68
63. Henrotin, Y. et al. (2012) Fibulin 3 peptides Fib3-1 and Fib3-2 are potential biomarkers of osteoarthritis. Arthritis and Rheumatism 64, 2260-2267
64. Mateos, J. et al. (2012) Differential protein profiling of synovial fluid from rheumatoid arthritis and osteoarthritis patients using LC-MALDI TOF/TOF. Journal of Proteomics 75, 2869-2878
65. Önnerfjord, P. et al. (2012) Quantitative proteomic analysis of eight cartilaginous tissues reveals characteristic differences as well as similarities between subgroups. Journal of Biological Chemistry 287, 18913-18924
66. Mobasheri, A. (2011) Applications of proteomics to osteoarthritis, amusculoskeletal disease characterized by aging. Frontiers in Physiology 2, 108
67. Califano, A. et al. (2012) Leveraging models of cell regulation and GWAS data in integrative networkbased association studies. NatureGenetics 44, 841-847