Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: The Rotterdam study

Annals of the Rheumatic Diseases

Volumn 68, Issue 11, 2009, Pages 1754-1760

  Vaes, R B A ^a   Rivadeneira, F ^a   Kerkhof, J M ^a   Hofman, A ^a   Pols, H A P ^a   Uitterlinden, A G ^a   Van Meurs, J B J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 5; GDF5 PROTEIN, HUMAN;

ADULT; AGED; ALLELE; ARTICLE; BODY HEIGHT; BONE DENSITOMETRY; FEMALE; FRACTURE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HIP; HIP OSTEOARTHRITIS; HOMOZYGOSITY; HUMAN; KNEE OSTEOARTHRITIS; MAJOR CLINICAL STUDY; MALE; OSTEOARTHRITIS; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; ANTHROPOMETRY; GENETIC PREDISPOSITION; GENETICS; HAND JOINT; METHODOLOGY; MIDDLE AGED; NETHERLANDS; PATHOLOGY; PHENOTYPE; PROSPECTIVE STUDY; RADIOGRAPHY;

AGED; ANTHROPOMETRY; BODY HEIGHT; FEMALE; FRACTURES, BONE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GROWTH DIFFERENTIATION FACTOR 5; HAND JOINTS; HIP JOINT; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; OSTEOARTHRITIS; OSTEOARTHRITIS, KNEE; PHENOTYPE; PROSPECTIVE STUDIES;

EID: 70449729925     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/ard.2008.099655     Document Type: Article

References (38)

1. Chang SC, Hoang B, Thomas JT, et al. Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development. J Biol Chem 1994;269:28227-28234 (Pubitemid 24983010)
2. Francis-West PH, Abdelfattah A, Chen P, et al. Mechanisms of GDF-5 action during skeletal development. Development 1999;126:1305-1315 (Pubitemid 29182125)
3. Masuya H, Nishida K, Furuichi T, 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;16:2366-2375 (Pubitemid 47430455)
4. Erlacher L, McCartney J, Piek E, et al. Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis. J Bone Miner Res 1998;13:383-392 (Pubitemid 28146220)
5. Southam L, Rodriguez-Lopez J, Wilkins JM, et al. An SNP in the 59-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Hum Mol Genet 2007;16:2226-2232 (Pubitemid 47354904)
6. Ploger F, Seemann P, Schmidt-von Kegler M, et al. Brachydactyly type A2 associated with a defect in proGDF5 processing. Hum Mol Genet 2008;17:1222-1233 (Pubitemid 351566959)
7. Seemann P, Schwappacher R, Kjaer KW, et al. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest 2005;115:2373-2381 (Pubitemid 41266199)
8. Polinkovsky A, Robin NH, Thomas JT, et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet 1997;17:18-19
9. Wang X, Xiao F, Yang Q, et al. A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families. Am J Med Genet A 2006;140A:1846-1853 (Pubitemid 44330649)
10. Dawson K, Seeman P, Sebald E, et al. GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet 2006;78:708-712
11. Thomas JT, Kilpatrick MW, Lin K, et al. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet 1997;17:58-64. (Pubitemid 27377532)
12. Thomas JT, Lin K, Nandedkar M, et al. A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet 1996;12:315-317 (Pubitemid 26080093)
13. Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, et al. Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Clin Genet 2002;61:454-458
14. Miyamoto Y, Mabuchi A, Shi D, et al. A functional polymorphism in the 59 UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet 2007;39:529-533 (Pubitemid 46514783)
15. Tsezou A, Satra M, Oikonomou P, et al. The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population. J Orthop Res 2008;26:136-140
16. Chapman K, Takahashi A, Meulenbelt I, et al. A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 59 UTR of GDF5 with osteoarthritis susceptibility. Hum Mol Genet 2008;17:1497-1504 (Pubitemid 351627345)
17. Sanna S, Jackson AU, Nagaraja R, et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet 2008;40:198-203. (Pubitemid 351171401)
18. Reijman M, Hazes JM, Bierma-Zeinstra SM, et al. A new marker for osteoarthritis: cross-sectional and longitudinal approach. Arthritis Rheum 2004;50:2471-2478 (Pubitemid 39062707)
19. Hofman A, Breteler MM, van Duijn CM, et al. The Rotterdam Study: objectives and design update. Eur J Epidemiol 2007;22:819-829 (Pubitemid 350105372)
20. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
21. Richards JB, Rivadeneira F, Inouye M, et al. Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 2008;371:1505-1512
22. Burger H, van Daele PL, Algra D, et al. The association between age and bone mineral density in men and women aged 55 years and over: the Rotterdam Study. Bone Miner 1994;25:1-13. (Pubitemid 24146127)
23. Reijman M, Hazes JM, Pols HA, et al. Validity and reliability of three definitions of hip osteoarthritis: cross sectional and longitudinal approach. Ann Rheum Dis 2004;63:1427-1433 (Pubitemid 39433946)
24. Dahaghin S, Bierma-Zeinstra SM, Ginai AZ, et al. Prevalence and pattern of radiographic hand osteoarthritis and association with pain and disability (the Rotterdam study). Ann Rheum Dis 2005;64:682-687 (Pubitemid 40559292)
25. Bergink AP, van der Klift M, Hofman A, et al. Osteoarthritis of the knee is associated with vertebral and nonvertebral fractures in the elderly: the Rotterdam Study. Arthritis Rheum 2003;49:648-657
26. Odding E, Valkenburg HA, Algra D, et al. Associations of radiological osteoarthritis of the hip and knee with locomotor disability in the Rotterdam Study. Ann Rheum Dis 1998;57:203-208 (Pubitemid 28323260)
27. Kellgren JH. Atlas of standard radiographs of arthritis. Oxford: Blackwell Scientific Publications, 1963.
28. Kellgren JH, Lawrence JS. Radiological assessment of osteo-arthrosis. Ann Rheum Dis 1957;16:494-502.
29. Stolk L, van Meurs JB, Arp PP, et al. The RIZ Pro704 insertion-deletion polymorphism, bone mineral density and fracture risk: the Rotterdam study. Bone 2008;42:286-293
30. McCloskey EV, Spector TD, Eyres KS, et al. The assessment of vertebral deformity: a method for use in population studies and clinical trials. Osteoporos Int 1993;3:138-147
31. Van der Klift M, De Laet CE, McCloskey EV, et al. The incidence of vertebral fractures in men and women: the Rotterdam Study. J Bone Miner Res 2002;17:1051-1056
32. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575 (Pubitemid 47330214)
33. Faulkner KG, Cummings SR, Black D, et al. Simple measurement of femoral geometry predicts hip fracture: the study of osteoporotic fractures. J Bone Miner Res 1993;8:1211-1217 (Pubitemid 23308114)
34. Frisoli A Jr, Paula AP, Pinheiro M, et al. Hip axis length as an independent risk factor for hip fracture independently of femural bone mineral density in Caucasian elderly Brazilian women. Bone 2005;37:871-875 (Pubitemid 41773498)
35. Dequeker J, Aerssens J, Luyten FP. Osteoarthritis and osteoporosis: clinical and research evidence of inverse relationship. Aging Clin Exp Res 2003;15:426-439 (Pubitemid 37509168)
36. Zhou S, Turgeman G, Harris SE, et al. Estrogens activate bone morphogenetic protein-2 gene transcription in mouse mesenchymal stem cells. Mol Endocrinol 2003;17:56-66. (Pubitemid 36132659)
37. Plant A, Tobias JH. Increased bone morphogenetic protein-6 expression in mouse long bones after estrogen administration. J Bone Miner Res 2002;17:782-790 (Pubitemid 34441894)
38. Rickard DJ, Hofbauer LC, Bonde SK, et al. Bone morphogenetic protein-6 production in human osteoblastic cell lines. Selective regulation by estrogen. J Clin Invest 1998;101:413-422