Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis

Arthritis and Rheumatism

Volumn 58, Issue 2, 2008, Pages 435-441

  Rodriguez Lopez, Julio ^a   Mustafa, Zehra ^b   Pombo Suarez, Manuel ^a   Malizos, Konstantinos N ^c   Rego, Ignacio ^d   Blanco, Francisco J ^d   Tsezou, Aspasia ^c   Loughlin, John ^b   Gomez Reino, Juan J ^a   Gonzalez, Antonio ^a  

^a Instituto de Salud Carlos III   (Spain)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF THESSALY   (Greece)

^d CH Universitario Juan Canalejo   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADAMTS 5 GENE; ALLELE; ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; DISEASE PREDISPOSITION; EXON; EXTENSION GENE; FEMALE; GENE; GENE LOCUS; GENE REPLICATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAND; HAPLOTYPE; HIP; HUMAN; KNEE; MAJOR CLINICAL STUDY; MALE; OSTEOARTHRITIS; PRIORITY JOURNAL; PROTEIN MOTIF; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAM PROTEINS; AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; OSTEOARTHRITIS; POLYMORPHISM, SINGLE NUCLEOTIDE; VARIATION (GENETICS);

EID: 39749178970     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.23201     Document Type: Article

References (16)

1. Spector TD, MacGregor AJ. Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage 2004;12 Suppl A:S39-44.
2. Peach CA, Carr AJ, Loughlin J. Recent advances in the genetic investigation of osteoarthritis. Trends Mol Med 2005;11:186-91.
3. Nagase H, Kashiwagi M. Aggrecanases and cartilage matrix degradation [review]. Arthritis Res Ther 2003;5:94-103.
4. Glasson SS, Askew R, Sheppard B, Carito B, Blanchet T, Ma HL, et al. Deletion of active ADAMTS5 prevents cartilage degradation in a murine model of osteoarthritis. Nature 2005;434:644-8.
5. Stanton H, Rogerson FM, East CJ, Golub SB, Lawlor KE, Meeker CT, et al. ADAMTS5 is the major aggrecanase in mouse cartilage in vivo and in vitro. Nature 2005;434:648-52.
6. Rodriguez-Lopez J, Pombo-Suarez M, Liz M, Gomez-Reino JJ, 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:R55.
7. Fytili P, Giannatou E, Papanikolaou V, Stripeli F, Karachalios T, Malizos K, et al. Association of repeat polymorphisms in the estrogen receptors α, β, and androgen receptor genes with knee osteoarthritis. Clin Genet 2005;68:268-77.
8. Mustafa Z, Dowling B, Chapman K, Sinsheimer JS, Carr A, Loughlin J. Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population. Arthritis Rheum 2005;52:3502-6.
9. Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-4.
10. Picavet HS, Hazes JM. Prevalence of self reported musculoskeletal diseases is high. Ann Rheum Dis 2003;62:644-50.
11. Sunyaev S, Ramensky V, Koch I, Lathe W III, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001;10:591-7.
12. Yue P, Melamud E, Moult J. SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 2006;7:166.
13. Song RH, Tortorella MD, Malfait AM, Alston JT, Yang Z, Arner EC, et al. Aggrecan degradation in human articular cartilage explants is mediated by both ADAMTS-4 and ADAMTS-5. Arthritis Rheum 2007;56:575-85.
14. Gendron C, Kashiwagi M, Lim NH, Enghild JJ, Thogersen IB, Hughes C, et al. Proteolytic activities of human ADAMTS-5: comparative studies with human ADAMTS-4 [published erratum appears in J Biol Chem 2007;282:28296]. J Biol Chem 2007;282:18294-306.
15. Sandy JD, Flannery CR, Neame PJ, Lohmander LS. The structure of aggrecan fragments in human synovial fluid: evidence for the involvement in osteoarthritis of a novel proteinase which cleaves the Glu 373-Ala 374 bond of the interglobular domain. J Clin Invest 1992;89:1512-6.
16. Malfait AM, Liu RQ, Ijiri K, Komiya S, Tortorella MD. Inhibition of ADAM-TS4 and ADAM-TS5 prevents aggrecan degradation in osteoarthritic cartilage. J Biol Chem 2002;277:22201-8.