Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: The TREAT-OA consortium

Osteoarthritis and Cartilage

Volumn 19, Issue 3, 2011, Pages 254-264

  Kerkhof, H J M ^a,b   Meulenbelt, I ^b,c   Akune, T ^d   Arden, N K ^e,f   Aromaa, A ^g   Bierma Zeinstra, S M A ^a   Carr, A ^f   Cooper, C ^e,f   Dai, J ^h   Doherty, M ⁱ   Doherty, S A ⁱ   Felson, D ^j   Gonzalez, A ^k   Gordon, A ^l,m   Harilainen, A ⁿ   Hart, D J ^o   Hauksson, V B ^p   Heliovaara, M ^g   Hofman, A ^a,b   Ikegawa, S ^q   Ingvarsson, T ^r   Jiang, Q ^h   Jonsson, H ^x   Jonsdottir, I ^p,s   Kawaguchi, H ^t   Kloppenburg, M ^c   Kujala, U M ^u   Lane, N E ^v   Leino Arjas, P ^w   Lohmander, L S ^x   Luyten, F P ^y   Malizos, K N ^z   Nakajima, M ^q   Nevitt, M C ^v   Pols, H A P ^a   Rivadeneira, F ^a,b   Shi, D ^h   Slagboom, E ^b,c   Spector, T D ^o   Stefansson, K ^p,s   Sudo, A ^aa   Tamm, A ^ab   Tamm, A E ^ab   Tsezou, A ^z   Uchida, A ^aa   Uitterlinden, A G ^a,b   Wilkinson, J M ^l,m   Yoshimura, N ^ac   Valdes, A M ^o   van Meurs, J B J ^a,b   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Netherlands Genomics Initiative   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF TOKYO   (Japan)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^h MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

ⁱ NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^j BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k Instituto de Salud Carlos III   (Spain)

^l UNIVERSITY OF SHEFFIELD   (United Kingdom)

^m NORTHERN GENERAL HOSPITAL   (United Kingdom)

ⁿ ORTON ORTHOPAEDIC HOSPITAL   (Finland)

^o ST THOMAS HOSPITAL   (United Kingdom)

^p DECODE GENETICS   (Iceland)

^q RIKEN   (Japan)

^r UNIVERSITY OF AKUREYRI   (Iceland)

^s LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^t UNIVERSITY OF TOKYO   (Japan)

^u UNIVERSITY OF JYVÄSKYLÄ   (Finland)

^v UNIVERSITY OF CALIFORNIA   (United States)

^w FINNISH INSTITUTE OF OCCUPATIONAL HEALTH   (Finland)

^x LUND UNIVERSITY   (Sweden)

^y UNIVERSITY OF LEUVEN   (Belgium)

^z UNIVERSITY OF THESSALY   (Greece)

^aa MIE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^ab UNIVERSITY OF TARTU   (Estonia)

^ac UNIVERSITY OF TOKYO HOSPITAL   (Japan)

more..

Author keywords

Definition; Genetics; Osteoarthritis; Phenotype; TREATOA

Indexed keywords

AGE; ARTICLE; BODY MASS; COHORT ANALYSIS; GENDER; GENETIC ANALYSIS; HAND; HIP OSTEOARTHRITIS; HUMAN; JOINT CAVITY; KNEE OSTEOARTHRITIS; METHODOLOGY; OSTEOARTHRITIS; OSTEOPHYTE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RADIOGRAPHY; STANDARDIZATION; SYMPTOM;

ANALYSIS OF VARIANCE; CASE-CONTROL STUDIES; COHORT STUDIES; FEMALE; HUMANS; MALE; OSTEOARTHRITIS; PHENOTYPE; PREVALENCE; REFERENCE STANDARDS;

EID: 79951853292     PISSN: 10634584     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.joca.2010.10.027     Document Type: Article

References (57)

1. Kerkhof H.J., Lories R.J., Meulenbelt I., Jonsdottir 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.
2. Evangelou E, Valdes AM, Kerkhof HJ, Styrkarsdottir U, Zhu Y, Meulenbelt I, et al. Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis 2010 Nov 10 [epub ahead of print].
3. Zhai G., van Meurs J.B., Livshits G., Meulenbelt I., Valdes A.M., Soranzo N., et al. A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium. J Med Genet 2009, 46:614-616.
4. Valdes A.M., Loughlin J., Timms K.M., van Meurs J.J., Southam L., Wilson S.G., et al. Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis. Am J Hum Genet 2008, 82:1231-1240.
5. Moonesinghe R., Khoury M.J., Liu T., Ioannidis J.P. Required sample size and nonreplicability thresholds for heterogeneous genetic associations. Proc Natl Acad Sci U S A 2008, 105:617-622.
6. Ioannidis J.P., Boffetta P., Little J., O'Brien T.R., Uitterlinden A.G., Vineis P., et al. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol 2008, 37:120-132.
7. Ioannidis J.P., Gwinn M., Little J., Higgins J.P., Bernstein J.L., Boffetta P., et al. A road map for efficient and reliable human genome epidemiology. Nat Genet 2006, 38:3-5.
8. Studies N-NWGoRiA, Chanock S.J., Manolio T., Boehnke M., Boerwinkle E., Hunter D.J., et al. Replicating genotype-phenotype associations. Nature 2007, 447:655-660.
9. Altman R.D. Criteria for the classification of osteoarthritis of the knee and hip. Scand J Rheumatol Suppl 1987, 65:31-39.
10. Ornetti P., Brandt K., Hellio-Le Graverand M.P., Hochberg M., Hunter D.J., Kloppenburg M., et al. OARSI-OMERACT definition of relevant radiological progression in hip/knee osteoarthritis. Osteoarthritis Cartilage 2009, 17:856-863.
11. Kerkhof J.M., Uitterlinden A.G., Valdes A.M., Hart D.J., Rivadeneira F., Jhamai M., et al. Radiographic osteoarthritis at three joint sites and FRZB, LRP5, and LRP6 polymorphisms in two population-based cohorts. Osteoarthritis Cartilage 2008, 16(10):1141-1149.
12. Kellgren J.H., Lawrence J.S. Radiological assessment of osteo-arthrosis. Ann Rheum Dis 1957, 16:494-502.
13. Schiphof D., Boers M., Bierma-Zeinstra S.M. Differences in descriptions of Kellgren and Lawrence grades of knee osteoarthritis. Ann Rheum Dis 2008, 67:1034-1036.
14. Altman R.D., Hochberg M., Murphy W.A., Wolfe F., Lequesne M. Atlas of individual radiographic features in osteoarthritis. Osteoarthritis Cartilage 1995, 3(Suppl A):3-70.
15. Hart D.J., Spector T.D. The classification and assessment of osteoarthritis. Bailliere Clin Rheumatol 1995, 9:407-432.
16. Reijman M., Hazes J.M., Bierma-Zeinstra S.M., Koes B.W., Christgau S., Christiansen C., et al. A new marker for osteoarthritis: cross-sectional and longitudinal approach. Arthritis Rheum 2004, 50:2471-2478.
17. Abdin-Mohamed M., Jameson K., Dennison E.M., Cooper C., Arden N.K., Hertfordshire Cohort Study G Volumetric bone mineral density of the tibia is not increased in subjects with radiographic knee osteoarthritis. Osteoarthritis Cartilage 2009, 17:174-177.
18. Englund M., Lohmander L.S. Risk factors for symptomatic knee osteoarthritis fifteen to twenty-two years after meniscectomy. Arthritis Rheum 2004, 50:2811-2819.
19. Bijsterbosch J., Visser W., Kroon H.M., Stamm T., Meulenbelt I., Huizinga T.W., et al. Thumb base involvement in symptomatic hand osteoarthritis is associated with more pain and functional disability. Ann Rheum Dis 2010, 69:585-587.
20. Sabb F.W., Burggren A.C., Higier R.G., Fox J., He J., Parker D.S., et al. Challenges in phenotype definition in the whole-genome era: multivariate models of memory and intelligence. Neuroscience 2009, 164:88-107.
21. Kring S.I., Larsen L.H., Holst C., Toubro S., Hansen T., Astrup A., et al. Genotype-phenotype associations in obesity dependent on definition of the obesity phenotype. Obes Facts 2008, 1(3):138-145.
22. Valdes AM, Mc Williams D, Arden NK, Doherty SA, Wheeler M, Muir KR, et al. Different risk factors are involved in clinically severe large joint osteoarthritis according to the presence of hand interphalangeal nodes. Arthritis Rheum 2010;62(9):2688-95.
23. Javaid M.K., Lane N.E., Mackey D.C., Lui L.Y., Arden N.K., Beck T.J., et al. Changes in proximal femoral mineral geometry precede the onset of radiographic hip osteoarthritis: the study of osteoporotic fractures. Arthritis Rheum 2009, 60:2028-2036.
24. Felson D.T., Lawrence R.C., Dieppe P.A., Hirsch R., Helmick C.G., Jordan J.M., et al. Osteoarthritis: new insights. Part 1: the disease and its risk factors. Ann Intern Med 2000, 133:635-646.
25. Lane N.E., Gore L.R., Cummings S.R., Hochberg M.C., Scott J.C., Williams E.N., et al. Serum vitamin D levels and incident changes of radiographic hip osteoarthritis: a longitudinal study. Study of Osteoporotic Fractures Research Group. Arthritis Rheum 1999, 42:854-860.
26. Lievense A.M., Bierma-Zeinstra S.M., Verhagen A.P., Verhaar J.A., Koes B.W. Prognostic factors of progress of hip osteoarthritis: a systematic review. Arthritis Rheum 2002, 47:556-562.
27. Dahaghin S., Bierma-Zeinstra S.M., Ginai A.Z., Pols H.A., Hazes J.M., Koes B.W. Prevalence and pattern of radiographic hand osteoarthritis and association with pain and disability (the Rotterdam study). Ann Rheum Dis 2005, 64:682-687.
28. Altman R., Asch E., Bloch D., Bole G., Borenstein D., Brandt K., et al. Development of criteria for the classification and reporting of osteoarthritis. Classification of osteoarthritis of the knee. Diagnostic and Therapeutic Criteria Committee of the American Rheumatism Association. Arthritis Rheum 1986, 29:1039-1049.
29. Altman R.D., Abadie E., Avouac B., Bouvenot G., Branco J., Bruyere O., et al. Total joint replacement of hip or knee as an outcome measure for structure modifying trials in osteoarthritis. Osteoarthritis Cartilage 2005, 13:13-19.
30. Dieppe P., Judge A., Williams S., Ikwueke I., Guenther K.P., Floeren M., et al. Variations in the pre-operative status of patients coming to primary hip replacement for osteoarthritis in European orthopaedic centres. BMC Musculoskelet Disord 2009, 10:19.
31. Bedson J., Croft P.R. The discordance between clinical and radiographic knee osteoarthritis: a systematic search and summary of the literature. BMC Musculoskelet Disord 2008, 9:116.
32. Ballantyne P.J., Gignac M.A., Hawker G.A. A patient-centered perspective on surgery avoidance for hip or knee arthritis: lessons for the future. Arthritis Rheum 2007, 57:27-34.
33. 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.
34. Peat G., Thomas E., Duncan R., Wood L., Hay E., Croft P. Clinical classification criteria for knee osteoarthritis: performance in the general population and primary care. Ann Rheum Dis 2006, 65:1363-1367.
35. Creamer P., Hochberg M.C. Why does osteoarthritis of the knee hurt - sometimes?. Br J Rheumatol 1997, 36:726-728.
36. Hart D.J., Spector T.D. Cigarette smoking and risk of osteoarthritis in women in the general population: the Chingford study. Ann Rheum Dis 1993, 52:93-96.
37. Valdes A.M., Arden N.K., Tamm A., Kisand K., Doherty S., Pola E., et al. A meta-analysis of interleukin-6 promoter polymorphisms on risk of hip and knee osteoarthritis. Osteoarthritis Cartilage 2010, 18:699-704.
38. Chapman K., Takahashi A., Meulenbelt I., Watson C., Rodriguez-Lopez J., Egli R., et al. 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. Hum Mol Genet 2008, 17:1497-1504.
39. Gordon A., Kiss-Toth E., Stockley I., Eastell R., Wilkinson J.M. Polymorphisms in the interleukin-1 receptor antagonist and interleukin-6 genes affect risk of osteolysis in patients with total hip arthroplasty. Arthritis Rheum 2008, 58:3157-3165.
40. Spector T.D., Williams F.M. The UK Adult Twin Registry (TwinsUK). Twin Res Hum Genet 2006, 9:899-906.
41. Ingvarsson T. Prevalence and inheritance of hip osteoarthritis in Iceland. Acta Orthop Scand Suppl 2000, 298:1-46.
42. Stefansson S.E., Jonsson H., Ingvarsson T., Manolescu I., Jonsson H.H., Olafsdottir G., et al. Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. Am J Hum Genet 2003, 72:1448-1459.
43. Hunter D.J., Demissie S., Cupples L.A., Aliabadi P., Felson D.T. A genome scan for joint-specific hand osteoarthritis susceptibility: the Framingham study. Arthritis Rheum 2004, 50:2489-2496.
44. Riyazi N., Meulenbelt I., Kroon H.M., Ronday K.H., Hellio le Graverand M.P., Rosendaal F.R., et al. 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 2005, 64:438-443.
45. Kaila-Kangas E. Musculoskeletal Disorders and Diseases in Finland. Results of the Health 2000 Survey 2007, National Public Health Institute, Finland, Finnish Institute of Occupational Health, University of Kuopio, Finland Publications of the National Public Health Institute B25/2007; Helsinki,.
46. Hofman A., Breteler M.M., van Duijn C.M., Janssen H.L., Krestin G.P., Kuipers E.J., et al. The Rotterdam study: 2010 objectives and design update. Eur J Epidemiol 2009, 24:553-572.
47. 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.
48. Solovieva S., Vehmas T., Riihimaki H., Luoma K., Leino-Arjas P. Hand use and patterns of joint involvement in osteoarthritis. A comparison of female dentists and teachers. Rheumatology (Oxford) 2005, 44:521-528.
49. Tamm A., Lintrop M., Veske K., Hansen U., Tamm A. Prevalence of patello- and tibiofemoral osteoarthritis in Elva, Southern Estonia. J Rheumatol 2008, 35:543-544.
50. Nakki A., Kouhia S.T., Saarela J., Harilainen A., Tallroth K., Videman T., et al. Allelic variants of IL1R1 gene associate with severe hand osteoarthritis. BMC Med Genet 2010, 11:50.
51. Fytili P., Giannatou E., Papanikolaou V., Stripeli F., Karachalios T., Malizos K., et al. Association of repeat polymorphisms in the estrogen receptors alpha, beta, and androgen receptor genes with knee osteoarthritis. Clin Genet 2005, 68:268-277.
52. Frobell R.B., Lohmander L.S., Roos E.M. The challenge of recruiting patients with anterior cruciate ligament injury of the knee into a randomized clinical trial comparing surgical and non-surgical treatment. Contemp Clin Trials 2007, 28:295-302.
53. Lohmander L.S., Gerhardsson de Verdier M., Rollof J., Nilsson P.M., Engstrom G. Incidence of severe knee and hip osteoarthritis in relation to different measures of body mass: a population-based prospective cohort study. Ann Rheum Dis 2009, 68:490-496.
54. Orwoll E., Blank J.B., Barrett-Connor E., Cauley J., Cummings S., Ensrud K., et al. Design and baseline characteristics of the osteoporotic fractures in men (MrOS) study - a large observational study of the determinants of fracture in older men. Contemp Clin Trials 2005, 26:569-585.
55. Rodriguez-Lopez J., Pombo-Suarez M., Liz M., Gomez-Reino J.J., Gonzalez A. Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility: case-control studies in Spanish Caucasians. Arthritis Res Ther 2006, 8(3):R55.
56. Nevitt M.C., Lane N.E., Scott J.C., Hochberg M.C., Pressman A.R., Genant H.K., et al. Radiographic osteoarthritis of the hip and bone mineral density. The Study of Osteoporotic Fractures Research Group. Arthritis Rheum 1995, 38:907-916.
57. Muraki S., Oka H., Akune T., Mabuchi A., En-yo Y., Yoshida M., et al. Prevalence of radiographic knee osteoarthritis and its association with knee pain in the elderly of Japanese population-based cohorts: the ROAD study. Osteoarthritis Cartilage 2009, 17:1137-1143.