Genetics of Paget's disease of bone

Stuart H. Ralston, Omar Al Bagha

Research output: Contribution to journalReview article

11 Citations (Scopus)


Paget's disease of bone (PDB) is a common condition, which is characterised by focal areas of increased and disorganized bone remodeling. Genetic factors play an important role in the disease. In some cases, Paget's disease is inherited in an autosomal dominant manner and the most common cause for this is a mutation in the SQSTM1 gene. Other familial cases have been linked to the OPTN locus on Chromosome 10p13 and still other variants have been identified by genome wide association studies that lie within or close to genes that play roles in osteoclast differentiation and function. Mutations in TNFRSF11A, TNFRSF11B and VCP have been identified in rare syndromes with PDB-like features. These advances have improved understanding of bone biology and the causes of PDB. The identification of genetic markers for PDB also raises the prospect that genetic profiling could identify patients at high risk of developing complications, permitting enhanced surveillance and early therapeutic intervention.

Original languageEnglish
Pages (from-to)263-271
Number of pages9
JournalCurrent Osteoporosis Reports
Issue number3
Publication statusPublished - 2014
Externally publishedYes



  • Bone resorption
  • CSF1
  • Fracture
  • Genetic
  • M-CSF
  • Macrophage colony stimulating factor
  • NFκB
  • Optineurin
  • Osteitis deformans
  • Osteoclast
  • Osteoprotegerin
  • Osteosarcoma
  • Paget's disease of bone
  • RANK
  • RIN3
  • SQSTM1
  • TM7SF4

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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