Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin

Anna Daroszewska, Lynne J Hocking, Fiona E A McGuigan, Bente Langdahl, Michael D Stone, Tim Cundy, Geoff C Nicholson, William D Fraser, Stuart H Ralston

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Abstract

To clarify the role of the TNFRSF11B gene encoding osteoprotegerin (OPG), in Paget's disease of bone (PDB) we studied TNFRSF11B polymorphisms in an association study of 690 UK subjects and in a worldwide familial study of 66 kindreds. We found that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to both sporadic and familial PDB.
Original languageEnglish
Pages (from-to)1506-1511
Number of pages6
JournalJournal of Bone and Mineral Research
Volume19
Issue number9
DOIs
Publication statusPublished - Sep 2004

Keywords

  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Osteitis Deformans
  • Osteoprotegerin
  • Polymorphism, Single Nucleotide
  • Receptors, Tumor Necrosis Factor

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