Genetic aspects of osteoarthritis

Seminars in Arthritis and Rheumatism

Volumn 34, Issue 6 SUPPL., 2004, Pages 15-18

  Bateman, John F ^a,b,c  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AGGRECAN; ARGININE; CARTILAGE OLIGOMERIC MATRIX PROTEIN; COLLAGEN FIBRIL; COLLAGEN TYPE 11; COLLAGEN TYPE 2; COLLAGEN TYPE 6; COLLAGEN TYPE 9; CYSTEINE; DECORIN; LEUCINE;

CHONDROGENESIS; CROSS LINKING; DIFFERENTIAL DIAGNOSIS; ENVIRONMENTAL FACTOR; EXTRACELLULAR MATRIX; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAND; HEREDITY; HIP; HUMAN; KNEE; LINKAGE ANALYSIS; MICROSATELLITE MARKER; NONHUMAN; NONSENSE MUTATION; OSTEOARTHRITIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; REVIEW; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CARTILAGE DEGENERATION; CYTOLOGY; DISEASE COURSE; EARLY DIAGNOSIS; GENETIC ASSOCIATION; GENETIC RISK; JOINT DESTRUCTION; KNEE OSTEOARTHRITIS; MEDICAL RESEARCH; MOLECULAR MECHANICS; MUTATION; RISK FACTOR; STATISTICAL ANALYSIS; TISSUE REPAIR;

EID: 19344375442     PISSN: 00490172     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.semarthrit.2004.03.006     Document Type: Article

References (23)

1. M.L. Brandi, L. Gennari, M.M. Cerinic, L. Becherini, A. Falchetti, L. Masi Genetic markers of osteoarticular disorders facts and hopes Arthritis Res 3 2001 270 280
2. J. Loughlin Genetic epidemiology of primary osteoarthritis Curr Opin Rheumatol 13 2001 111 116
3. J. Loughlin Genome studies and linkage in primary osteoarthritis Rheum Dis Clin North Am 28 2002 95 109
4. R. Hirsch, M. Lethbridge-Cejku, R. Hanson, W.W. Scott Jr, R. Reichle, C.C. Plato Familial aggregation of osteoarthritis data from the Baltimore Longitudinal Study on Aging Arthritis Rheum 41 1998 1227 1232
5. D.T. Felson, N.N. Couropmitree, C.E. Chaisson, M.T. Hannan, Y. Zhang, T.E. McAlindon Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis the Framingham Study Arthritis Rheum 41 1998 1064 1071
6. T.D. Spector, F. Cicuttini, J. Baker, J. Loughlin, D. Hart Genetic influences on osteoarthritis in women a twin study BMJ 312 1996 940 943
7. A.J. MacGregor, L. Antoniades, M. Matson, T. Andrew, T.D. Spector The genetic contribution to radiographic hip osteoarthritis in women results of a classic twin study Arthritis Rheum 43 2000 2410 2416
8. P.N. Sambrook, A.J. MacGregor, T.D. Spector Genetic influences on cervical and lumbar disc degeneration a magnetic resonance imaging study in twins Arthritis Rheum 42 1999 366 372
9. D. Eyre Collagen of articular cartilage Arthritis Res 4 2002 30 35
10. D. Heinegard, A. Oldberg Gycosylated matrix proteins P.M. Royce B. Steinmann Connective Tissue and its Heritable Disorders 1993 Wiley-Liss New York 189 209
11. P.J. Roughley, E.R. Lee Cartilage proteoglycans structure and potential functions Microsc Res Tech 28 1994 385 397
12. H. Kuivaniemi, G. Tromp, D.J. Prockop Mutations in collagen genes causes of rare and some common diseases in humans FASEB J 5 1991 2052 2060
13. P.H. Byers Brittle bones--fragile molecules disorders of collagen gene structure and expression Trends Genet 6 1990 293 300
14. Z. Mustafa, K. Chapman, C. Irven, A.J. Carr, K. Clipsham, J. Chitnavis Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis Rheumatology (Oxford) 39 2000 299 306
15. P. Paassilta, J. Lohiniva, H.H. Goring, M. Perala, S.S. Raina, J. Karppinen Identification of a novel common genetic risk factor for lumbar disk disease JAMA 285 2001 1843 1849
16. K. Nakata, K. Ono, J. Miyazaki, B.R. Olsen, Y. Muragaki, E. Adachi Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion Proc Natl Acad Sci U S A 90 1993 2870 2874
17. R. Fassler, P.N. Schnegelsberg, J. Dausman, T. Shinya, Y. Muragaki, M.T. McCarthy Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease Proc Natl Acad Sci U S A 91 1994 5070 5074
18. M.P. Snead, J.R. Yates Clinical and molecular genetics of Stickler syndrome J Med Genet 36 1999 353 359
19. S. Freddi, R. Savarirayan, J.F. Bateman Molecular diagnosis of Stickler syndrome a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability Am J Med Genet 90 2000 398 406
20. L. Ala-Kokko, C.T. Baldwin, R.W. Moskowitz, D.J. Prockop Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia Proc Natl Acad Sci U S A 87 1990 6565 6568
21. J.F. Bleasel, D. Holderbaum, V. Brancolini, R.W. Moskowitz, E.L. Considine, D.J. Prockop Five families with arginine 519-cysteine mutation in COL2A1 evidence for three distinct founders Hum Mutat 12 1998 172 176
22. R.J. Mier, D. Holderbaum, R. Ferguson, R. Moskowitz Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1) Mol Genet Metab 74 2001 338 341
23. A. Fertala, A.L. Sieron, E. Adachi, S.A. Jimenez Collagen II containing a Cys substitution for Arg-alpha1-519 abnormal interactions of the mutated molecules with collagen IX Biochemistry 40 2001 14422 14428