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

@article{RodrguezLpez2008GeneticVI,
  title={Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis.},
  author={Julio Rodr{\'i}guez-L{\'o}pez and Zehra Mustafa and Manuel Pombo-Suarez and Konstantinos N. Malizos and Ignacio Rego and Francisco J Blanco and Aspasia Tsezou and John Loughlin and Juan J G{\'o}mez-Reino and Antonio Gonz{\'a}lez},
  journal={Arthritis and rheumatism},
  year={2008},
  volume={58 2},
  pages={
          435-41
        }
}
OBJECTIVE Given the recent characterization of ADAMTS-5 as the main aggrecanase of cartilage destruction in mouse models, we explored whether genetic variation and, in particular, putative damaging polymorphisms in the ADAMTS-5 gene modify susceptibility to osteoarthritis (OA). METHODS Two likely deleterious nonsynonymous single-nucleotide polymorphisms (SNPs) were identified in ADAMTS-5 by bioinformatics analysis, rs2830585 in exon 5 affecting a thrombospondin 1 motif, and rs226794 in exon 7… CONTINUE READING
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