A genetic variant in osteoprotegerin is associated with progression of joint destruction in rheumatoid arthritis

Arthritis Research and Therapy

Volumn 16, Issue 3, 2014, Pages

  Knevel, Rachel ^a   de Rooy, Diederik P C ^a   Saxne, Tore ^b   Lindqvist, Elisabet ^b   Leijsma, Martha K ^c   Daha, Nina A ^a   Koeleman, Bobby P C ^d   Tsonaka, Roula ^a   Houwing Duistermaat, Jeanine J ^a   Schonkeren, Joris J M ^a   Toes, Rene E M ^a   Huizinga, Tom W J ^a   Brouwer, Elisabeth ^c   Wilson, Anthony G ^e   van der Helm van Mil, Annette H M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LUND UNIVERSITY   (Sweden)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

OSTEOCLAST DIFFERENTIATION FACTOR; OSTEOPROTEGERIN; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B; TNFRSF11A PROTEIN, HUMAN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 6;

ADULT; AGED; ARTHROPATHY; DISEASE COURSE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; MALE; META ANALYSIS (TOPIC); MIDDLE AGED; RADIOGRAPHY; RHEUMATOID ARTHRITIS; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; ARTHRITIS, RHEUMATOID; DISEASE PROGRESSION; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; JOINT DISEASES; MALE; META-ANALYSIS AS TOPIC; MIDDLE AGED; OSTEOPROTEGERIN; POLYMORPHISM, SINGLE NUCLEOTIDE; RANK LIGAND; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B; RISK FACTORS; TNF RECEPTOR-ASSOCIATED FACTOR 6;

EID: 84901389239     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar4558     Document Type: Article

References (38)

1. van der Heijde DM, van Riel PL, van Leeuwen MA, van 't Hof MA, van Rijswijk MH, van de Putte LB. Prognostic factors for radiographic damage and physical disability in early rheumatoid arthritis. A prospective follow-up study of 147 patients. Br J Rheumatol 1992, 31:519-525. 10.1093/rheumatology/31.8.519, 1386548.
2. de Rooy DP, van der Linden MP, Knevel R, Huizinga TW, van der Helm-van Mil AH. Predicting arthritis outcomes-what can be learned from the Leiden Early Arthritis Clinic?. Rheumatology (Oxford) 2011, 50:93-100. 10.1093/rheumatology/keq230, 20639266.
3. van der Helm-van Mil AH, Kern M, Gregersen PK, Huizinga TW. Variation in radiologic joint destruction in rheumatoid arthritis differs between monozygotic and dizygotic twins and pairs of unrelated patients. Arthritis Rheum 2006, 54:2028-2030. 10.1002/art.21872, 16732568.
4. Knevel R, Gröndal G, Huizinga TW, Visser AW, Jónsson H, Víkingsson A, Geirsson AJ, Steinsson K, van der Helm-van Mil AH. Genetic predisposition of the severity of joint destruction in rheumatoid arthritis: a population-based study. Ann Rheum Dis 2012, 71:707-709. 10.1136/annrheumdis-2011-200627, 22219137.
5. Kong YY, Feige U, Sarosi I, Bolon B, Tafuri A, Morony S, Capparelli C, Li J, Elliott R, McCabe S, Wong T, Campagnuolo G, Moran E, Bogoch ER, Van G, Nguyen LT, Ohashi PS, Lacey DL, Fish E, Boyle WJ, Penninger JM. Activated T cells regulate bone loss and joint destruction in adjuvant arthritis through osteoprotegerin ligand. Nature 1999, 402:304-309. 10.1038/46303, 10580503.
6. Gravallese EM, Galson DL, Goldring SR, Auron PE. The role of TNF-receptor family members and other TRAF-dependent receptors in bone resorption. Arthritis Res 2001, 3:6-12. 10.1186/ar134, 128878, 11178122.
7. Bromley M, Woolley DE. Chondroclasts and osteoclasts at subchondral sites of erosion in the rheumatoid joint. Arthritis Rheum 1984, 27:968-975. 10.1002/art.1780270902, 6236824.
8. Leisen JCC, Duncan H, Riddle JM, Pitchford WC. The erosive front: a topographic study of the junction between the pannus and the subchondral plate in the macerated rheumatoid metacarpal head. J Rheumatol 1988, 15:17-22.
9. Horwood NJ, Kartsogiannis V, Quinn JMW, Romas E, Martin TJ, Gillespie MT. Activated T lymphocytes support osteoclast formation in vitro. Biochem Biophys Res Commun 1999, 265:144-150. 10.1006/bbrc.1999.1623, 10548505.
10. Takayanagi H, Iizuka H, Juji T, Nakagawa T, Yamamoto A, Miyazaki T, Koshihara Y, Oda H, Nakamura K, Tanaka S. Involvement of receptor activator of nuclear factor kappa-B ligand/osteoclast differentiation factor in osteoclastogenesis from synoviocytes in rheumatoid arthritis. Arthritis Rheum 2000, 43:259-269. 10.1002/1529-0131(200002)43:2<259::AID-ANR4>3.0.CO;2-W, 10693864.
11. Martínez-Calatrava MJ, Prieto-Potín I, Roman-Blas JA, Tardio L, Largo R, Herrero-Beaumont G. RANKL synthesized by articular chondrocytes contributes to juxta-articular bone loss in chronic arthritis. Arthritis Res Ther 2012, 14:R149. 10.1186/ar3884, 3446534, 22709525.
12. Geusens PP, Landewé RB, Garnero P, Chen D, Dunstan CR, Lems WF, Stinissen P, van der Heijde DM, van der Linden S, Boers M. The ratio of circulating osteoprotegerin to RANKL in early rheumatoid arthritis predicts later joint destruction. Arthritis Rheum 2006, 54:1772-1777. 10.1002/art.21896, 16736519.
13. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, Ingvarsson T, Jonsdottir T, Saemundsdottir J, Center JR, Nguyen TV, Bagger Y, Gulcher JR, Eisman JA, Christiansen C, Sigurdsson G, Kong A, Thorsteinsdottir U, Stefansson K. Multiple genetic loci for bone mineral density and fractures. N Engl J Med 2008, 358:2355-2365. 10.1056/NEJMoa0801197, 18445777.
14. Richards JB, Rivadeneira F, Inouye M, Pastinen TM, Soranzo N, Wilson SG, Andrew T, Falchi M, Gwilliam R, Ahmadi KR, Valdes AM, Arp P, Whittaker P, Verlaan DJ, Jhamai M, Kumanduri V, Moorhouse M, van Meurs JB, Hofman A, Pols HA, Hart D, Zhai G, Kato BS, Mullin BH, Zhang F, Deloukas P, Uitterlinden AG, Spector TD. Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 2008, 371:1505-1512. 10.1016/S0140-6736(08)60599-1, 2679414,2679414, 18455228.
15. Hsu YH, Niu T, Terwedow HA, Xu X, Feng Y, Li Z, Brain JD, Rosen CJ, Laird N, Xu X. Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men. Hum Genet 2006, 118:568-577. 10.1007/s00439-005-0062-4, 16249885.
16. Rivadeneira F, Styrkársdottir U, Estrada K, Halldórsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Grundberg E, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra B, Pastinen T, Pols HA, Sigurdsson G, Soranzo N, Thorleifsson G, Thorsteinsdottir U, Williams FM, Wilson SG, Zhou Y, Ralston SH, van Duijn CM, et al. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet 2009, 41:1199-1206. 10.1038/ng.446, 2783489, 19801982.
17. van der Heijde D. How to read radiographs according to the Sharp/van der Heijde method. J Rheumatol 2000, 27:261-263.
18. Rau R, Herborn G. A modified version of Larsen's scoring method to assess radiologic changes in rheumatoid arthritis. J Rheumatol 1995, 22:1976-1982.
19. Mewar D, Coote A, Moore DJ, Marinou I, Keyworth J, Dickson MC, Montgomery DS, Binks MH, Wilson AG. Independent associations of anti-cyclic citrullinated peptide antibodies and rheumatoid factor with radiographic severity of rheumatoid arthritis. Arthritis Res Ther 2006, 8:R128. 10.1186/ar2017, 1779371, 16859535.
20. Fex E, Jonsson K, Johnson U, Eberhardt K. Development of radiographic damage during the first 5-6 yr of rheumatoid arthritis. A prospective follow-up study of a Swedish cohort. British. J Rheumatol 1996, 35:1106-1115.
21. Larsen A, Dale K, Eek M. Radiographic evaluation of rheumatoid arthritis and related conditions by standard reference films. Acta Radiol Diagn (Stockh) 1977, 18:481-91.
22. Lindqvist E, Jonsson K, Saxne T, Eberhardt K. Course of radiographic damage over 10 years in a cohort with early rheumatoid arthritis. Ann Rheum Dis 2003, 62:611-616. 10.1136/ard.62.7.611, 1754610, 12810421.
23. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265. 10.1093/bioinformatics/bth457, 15297300.
24. Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GA, Adány R, Aromaa A, Bardella MT, van den Berg LH, Bockett NA, de la Concha EG, Dema B, Fehrmann RS, Fernández-Arquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwen RH, Hunt SE, Kaukinen K, Kelleher D, Korponay-Szabo I, Kurppa K, MacMathuna P, Mäki M, et al. Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 2010, 42:295-302. 10.1038/ng.543, 2847618, 20190752.
25. van der Helm-van Mil AH, Knevel R, van der Heijde D, Huizinga TW. How to avoid phenotypic misclassification in using joint destruction as an outcome measure for Rheumatoid Arthritis? - Sensitive measuring of joint destruction in RA. Rheumatology (Oxford) 2010, 49:1429-1435. 10.1093/rheumatology/keq013, 20202925.
26. Lassere M. Pooled metaanalysis of radiographic progression: comparison of Sharp and Larsen methods. J Rheumatol 2000, 27:269-275.
27. Lebrec JJ, Stijnen T, van Houwelingen HC. Dealing with heterogeneity between cohorts in genomewide SNP association studies. Stat Appl Genet Mol Biol 2010, 9:Article 8.
28. Knevel R, Krabben A, Brouwer E, Posthumus MD, Wilson AG, Lindqvist E, Saxne T, de Rooy D, Daha N, van der Linden MP, Stoeken G, van Toorn L, Koeleman B, Tsonaka R, Zhernakoza A, Houwing-Duistermaat JJ, Toes R, Huizinga TW, van der Helm-van MA. Genetic variants in IL-15 Associate with Progression of Joint Destruction in Rheumatoid Arthritis, a Multi Cohort Study. Ann Rheum Dis 2012, 71:1651-1657. 10.1136/annrheumdis-2011-200724, 22440823.
29. Eyre S, Bowes J, Diogo D, Lee A, Barton A, Martin P, Zhernakova A, Stahl E, Viatte S, McAllister K, Amos CI, Padyukov L, Toes RE, Huizinga TW, Wijmenga C, Trynka G, Franke L, Westra HJ, Alfredsson L, Hu X, Sandor C, de Bakker PI, Davila S, Khor CC, Heng KK, Andrews R, Edkins S, Hunt SE, Langford C, Symmons D, et al. High density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet 2012, 44:1336-1340. 10.1038/ng.2462, 3605761, 23143596.
30. Strand V, Landéwé R, van der Heijde D. Using estimated yearly progression rates to compare radiographic data across recent randomised controlled trials in rheumatoid arthritis. Ann Rheum Dis 2002, 61:ii64-ii66. 1766712, 12379626.
31. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D. The structure of haplotype blocks in the human genome. Science 2002, 21:2225-2229.
32. Knevel R, van Nies JA, le Cessie S, Huizinga TW, Brouwer E, van der Helm-van Mil AH. Evaluation of the contribution of cumulative levels of inflammation to the variance in joint destruction in rheumatoid arthritis. Ann Rheum Dis 2013, 72:307-308. 10.1136/annrheumdis-2012-201931, 22904258.
33. Skoumal M, Kolarz G, Haberhauer G, Woloszczuk W, Hawa G, Klingler A. Osteoprotegerin and the receptor activator of NF-kappa B ligand in the serum and synovial fluid. A comparison of patients with longstanding rheumatoid arthritis and osteoarthritis. Rheumatol Int 2005, 26:63-69. 10.1007/s00296-004-0579-1, 15889303.
34. Richards JB, Kavvoura FK, Rivadeneira F, Styrkársdóttir U, Estrada K, Halldórsson BV, Hsu YH, Zillikens MC, Wilson SG, Mullin BH, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra BA, Pols HA, Sigurdsson G, Thorsteinsdottir U, Soranzo N, Williams FM, Zhou Y, Ralston SH, Thorleifsson G, van Duijn CM, Kiel DP, et al. Collaborative Meta-analysis: Associations of 150 Candidate Genes With Annals of Internal Medicine Osteoporosis and Osteoporotic Fracture. Ann Intern Med 2009, 20:151. 528-537.
35. Knevel R, Klein K, Somers K, Ospelt C, Houwing-Duistermaat JJ, van Nies JA, de Rooy DP, de Bock L, Kurreeman FA, Schonkeren J, Stoeken-Rijsbergen G, Helmer Q, van der Linden MP, Kern M, Manjarrez-Orduno N, Rodriguez-Rodriquez L, Stinissen P, Huizinga TW, Toes RE, Gay S, Gregersen PK, Somers V, van der Helm-van Mil AH. Identification of a genetic variant for joint damage progression in autoantibody-positive rheumatoid arthritis. Ann Rheum Dis 2013, 16. [Epub ahead of print].
36. Knevel R, de Rooy DP, Zhernakova A, Gröndal G, Krabben A, Steinsson K, Wijmenga C, Cavet G, Toes RE, Huizinga TW, Gregersen PK, van der Helm-van Mil AH. Association of variants in IL2RA with progression of joint destruction in rheumatoid arthritis. Arthritis Rheum 2013, 65:1684-1693. 10.1002/art.37938, 23529819.
37. Knevel R, Tsonaka R, le Cessie S, van der Linden MP, Huizinga TW, van der Heijde DM, Houwing-Duistermaat JJ, van der Helm-van Mil AH. Comparison of methodologies for analysing the progression of joint destruction in rheumatoid arthritis. Scand J Rheumatol 2013, 42:182-189. 10.3109/03009742.2012.728618, 23425151.
38. Raychaudhuri S, Thomson BP, Remmers EF, Eyre S, Hinks A, Guiducci C, Catanese JJ, Xie G, Stahl EA, Chen R, Alfredsson L, Amos CI, Ardlie KG, Consortium BIRAC, Barton A, Bowes J, Burtt NP, Chang M, Coblyn J, Costenbader KH, Criswell LA, Crusius JB, Cui J, De Jager PL, Ding B, Emery P, Flynn E, Harrison P, Hocking LJ, Huizinga TW, et al. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet 2009, 41:1313-1318. 10.1038/ng.479, 3142887, 19898481.