The genetic epidemiological landscape of hip and knee osteoarthritis: Where are we now and where are we going?

Journal of Rheumatology

Volumn 43, Issue 2, 2016, Pages 260-266

  Zengini, Eleni ^a,b,c   Finan, Chris ^a,b,c   Wilkinson, J Mark ^a,b,c  

^a Psychiatric Hospital of Athens (Dromokaiteio)   (Greece)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

Genetic studies; Osteoarthritis; Single nucleotide polymorphism

Indexed keywords

BETA TUBULIN;

5' UNTRANSLATED REGION; CHONDROGENESIS; EPIGENETICS; ETHNICITY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HIP OSTEOARTHRITIS; HUMAN; INTRON; KNEE OSTEOARTHRITIS; MECHANOTRANSDUCTION; NOCICEPTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MOLECULAR EPIDEMIOLOGY; OSTEOARTHRITIS, HIP; OSTEOARTHRITIS, KNEE;

GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MOLECULAR EPIDEMIOLOGY; OSTEOARTHRITIS, HIP; OSTEOARTHRITIS, KNEE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84969375518     PISSN: 0315162X     EISSN: 14992752     Source Type: Journal    
DOI: 10.3899/jrheum.150710     Document Type: Review

References (50)

1. Felson DT, Lawrence RC, Dieppe PA, Hirsch R, Helmick CG, Jordan JM, et al. Osteoarthritis: new insights. Part 1: the disease and its risk factors. Ann Intern Med 2000;133:635-46.
2. Felson DT, Lawrence RC, Hochberg MC, McAlindon T, Dieppe PA, Minor MA, et al. Osteoarthritis: new insights. Part 2: treatment approaches. Ann Intern Med 2000;133:726-37.
3. Panoutsopoulou K, Zeggini E. Advances in osteoarthritis genetics. J Med Genet 2013;50:715-24.
4. Schicht M, Ernst J, Nielitz A, Fester L, Tsokos M, Guddat SS, et al. Articular cartilage chondrocytes express aromatase and use enzymes involved in estrogen metabolism. Arthritis Res Ther 2014;16:R93.
5. Cross M, Smith E, Hoy D, Nolte S, Ackerman I, Fransen M, et al. The global burden of hip and knee osteoarthritis: estimates from the Global Burden of Disease 2010 study. Ann Rheum Dis 2014;73:1323-30.
6. Xu L, Nevitt MC, Zhang Y, Yu W, Alibadi P, Felson DT. [High prevalence of knee, but not hip or hand osteoarthritis in Beijing elders: comparison with data of Caucasian in United States]. [Article in Chinese] Zhonghua Yi Xue Za Zhi 2003;83:1206-9.
7. Panoutsopoulou K, Southam L, Elliott KS, Wrayner N, Zhai G, Beazley C, et al; arcOGEN Consortium. Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Ann Rheum Dis 2011;70:864-7.
8. Golan D, Lander ES, Rosset S. Measuring missing heritability: inferring the contribution of common variants. Proc Natl Acad Sci U S A 2014;111:E5272-81.
9. Lee SH, Wray NR, Goddard ME, Visscher PM. Estimating missing heritability for disease from genome-wide association studies. Am J Hum Genet 2011;88:294-305.
10. Panoutsopoulou K, Tachmazidou I, Zeggini E. In search of low-frequency and rare variants affecting complex traits. Hum Mol Genet 2013;22:R16-21.
11. Buxton P, Edwards C, Archer CW, Francis-West P. Growth/differentiation factor-5 (GDF-5) and skeletal development. J Bone Joint Surg Am 2001;83-A Suppl 1:S23-30.
12. 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;39:529-33.
13. Valdes AM, Evangelou E, Kerkhof HJ, Tamm A, Doherty SA, Kisand K, et al. The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome-wide statistical significance. Ann Rheum Dis 2011;70:873-5.
14. Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet 2008;40:198-203.
15. Masuya H, Nishida K, Furuichi T, Toki H, Nishimura G, Kawabata H, et al. A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice. Hum Mol Genet 2007;16:2366-75.
16. Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res 2014;42:D1001-6.
17. 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;40:994-8.
18. Nakajima M, Miyamoto Y, Ikegawa S. Cloning and characterization of the osteoarthritis-associated gene DVWA. J Bone Miner Metab 2011;29:300-8.
19. Nakajima M, Takahashi A, Kou I, Rodriguez-Fontenla C, Gomez-Reino JJ, 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.
20. Kerkhof HJ, Lories RJ, Meulenbelt I, Jonsdottir I, Valdes AM, Arp P, et al. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis Rheum 2010;62:499-510.
21. Evangelou E, Valdes AM, Kerkhof HJ, Styrkarsdottir U, Zhu Y, Meulenbelt I, et al; Translation Research in Europe Applied Technologies for Osteoarthritis (TreatOA). Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis 2011;70:349-55.
22. Rodriguez-Fontenla C, Gonzalez A. Genetics of osteoarthritis. Reumatol Clin 2015;11:33-40.
23. Castaño Betancourt MC, Cailotto F, Kerkhof HJ, Cornelis FM, Doherty SA, Hart DJ, 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 U S A 2012;109:8218-23.
24. Evangelou E, Valdes AM, Castano-Betancourt MC, Doherty M, Doherty S, Esko T, et al. The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males. Ann Rheum Dis 2013;72:1264-5.
25. Evangelou E, Kerkhof HJ, Styrkarsdottir U, Ntzani EE, Bos SD, Esko T, et al. A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip. Ann Rheum Dis 2014;73:2130-6.
26. Day-Williams AG, Southam L, Panoutsopoulou K, Rayner NW, Esko T, Estrada K, et al. A variant in MCF2L is associated with osteoarthritis. Am J Hum Genet 2011;89:446-50.
27. Yoshizawa M, Sone M, Matsuo N, Nagase T, Ohara O, Nabeshima Y, et al. Dynamic and coordinated expression profile of dbl-family guanine nucleotide exchange factors in the developing mouse brain. Gene Expr Patterns 2003;3:375-81.
28. arcOGEN Consortium; arcOGEN Collaborators, Zeggini E, Panoutsopoulou K, Southam L, Rayner NW, et al. Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 2012;380:815-23.
29. Izu Y, Sun M, Zwolanek D, Veit G, Williams V, Cha B, et al. Type XII collagen regulates osteoblast polarity and communication during bone formation. J Cell Biol 2011;193:1115-30.
30. Yuan Q, Sato T, Densmore M, Saito H, Schüler C, Erben RG, et al. Deletion of PTH rescues skeletal abnormalities and high osteopontin levels in Klotho-/-mice. PLoS Genet 2012;8:e1002726.
31. Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, et al. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet 2009;41:18-24.
32. Elliott KS, Chapman K, Day-Williams A, Panoutsopoulou K, Southam L, Lindgren CM, et al. Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data. Ann Rheum Dis 2013; 72:935-41.
33. Panoutsopoulou K, Metrustry S, Doherty SA, Laslett LL, Maciewicz RA, Hart DJ, et al. The effect of FTO variation on increased osteoarthritis risk is mediated through body mass index: a mendelian randomisation study. Ann Rheum Dis 2014;73:2082-6.
34. Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty MM, Hysi PG, et al. A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet 2012;8:e1002932.
35. Komori T. Regulation of bone development and extracellular matrix protein genes by RUNX2. Cell Tissue Res 2010;339:189-95.
36. Kurkó J, Besenyei T, Laki J, Glant TT, Mikecz K, Szekanecz Z. Genetics of rheumatoid arthritis-a comprehensive review. Clin Rev Allergy Immunol 2013;45:170-9.
37. Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 2014;506:376-81.
38. den Hollander W, Ramos YF, Bos SD, Bomer N, van der Breggen R, Lakenberg N, et al. Knee and hip articular cartilage have distinct epigenomic landscapes: implications for future cartilage regeneration approaches. Ann Rheum Dis 2014;73:2208-12.
39. Imagawa K, de Andrés MC, Hashimoto K, Itoi E, Otero M, Roach HI, et al. Association of reduced type IX collagen gene expression in human osteoarthritic chondrocytes with epigenetic silencing by DNA hypermethylation. Arthritis Rheumatol 2014;66:3040-51.
40. Fernández-Tajes J, Soto-Hermida A, Vázquez-Mosquera ME, Cortés-Pereira E, Mosquera A, Fernández-Moreno M, et al. Genome-wide DNA methylation analysis of articular chondrocytes reveals a cluster of osteoarthritic patients. Ann Rheum Dis 2014;73:668-77.
41. Jeffries MA, Donica M, Baker LW, Stevenson ME, Annan AC, Humphrey MB, et al. Genome-wide DNA methylation study identifies significant epigenomic changes in osteoarthritic cartilage. Arthritis Rheumatol 2014;66:2804-15.
42. Rushton MD, Reynard LN, Barter MJ, Refaie R, Rankin KS, Young DA, et al. Characterization of the cartilage DNA methylome in knee and hip osteoarthritis. Arthritis Rheumatol 2014;66:2450-60.
43. Karasik D, Zhou Y, Cupples LA, Hannan MT, Kiel DP, Demissie S. Bivariate genome-wide linkage analysis of femoral bone traits and leg lean mass: Framingham study. J Bone Miner Res 2009;24:710-8.
44. Lanyon P, Muir K, Doherty S, Doherty M. Influence of radiographic phenotype on risk of hip osteoarthritis within families. Ann Rheum Dis 2004;63:259-63.
45. Doherty M, Courtney P, Doherty S, Jenkins W, Maciewicz RA, Muir K, et al. Nonspherical femoral head shape (pistol grip deformity), neck shaft angle, and risk of hip osteoarthritis: a case-control study. Arthritis Rheum 2008;58:3172-82.
46. Nicholls AS, Kiran A, Pollard TC, Hart DJ, Arden CP, Spector T, et al. The association between hip morphology parameters and nineteen-year risk of end-stage osteoarthritis of the hip: a nested case-control study. Arthritis Rheum 2011;63:3392-400.
47. Saint Pierre A, Génin E. How important are rare variants in common disease? Brief Funct Genomics 2014;13:353-61.
48. Joyce AR, Palsson BØ. The model organism as a system: integrating 'omics' data sets. Nat Rev Mol Cell Biol 2006;7:198-210.
49. Li-Pook-Than J, Snyder M. iPOP goes the world: integrated personalized Omics profiling and the road toward improved health care. Chem Biol 2013;20:660-6.
50. Tieri P, de la Fuente A, Termanini A, Franceschi C. Integrating Omics data for signaling pathways, interactome reconstruction, and functional analysis. Methods Mol Biol 2011;719:415-33.