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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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
Issue number9
Publication statusPublished - Sep 2004


  • 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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