Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland

F S Giraudeau, R E McGinnis, I C Gray, E J O'Brien, K E Doncaster, N K Spurr, S H Ralston, D M Reid, J Wood

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Abstract

BMD values in similar to3000 perimenopausal Scottish women were adjusted by regression to identify and account for nongenetic factors. Adjusted BMD values were not associated with simple tandem repeat (STR) markers or single nucleotide polymorphisms (SNPs) at the Cathepsin K (CTSK) locus. We present a thorough analysis of common CTSK polymorphisms and genetic relatedness among CTSK haplotypes.

Original languageEnglish
Pages (from-to)31-41
Number of pages11
JournalJournal of Bone and Mineral Research
Volume19
DOIs
Publication statusPublished - 2004

Keywords

  • cathepsin K
  • bone mineral density
  • single nucleotide polymorphism
  • simple tandem repeat
  • haplotype
  • MOLECULAR-CLONING
  • IN-VIVO
  • INHIBITORS
  • POTENT
  • PYCNODYSOSTOSIS
  • OSTEOCLASTS
  • RESORPTION
  • EXPRESSION
  • CDNA
  • MICE

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