Variants at three genetic loci are associated with Paget's disease of bone (PDB), according to a new report published online this week in Nature Genetics.
Paget's disease of bone is characterized by excessive breakdown and formation of bone that leads to enlarged and malformed bones; it can affect any bone in the skeleton. In normal skeletons, bones are dynamically forming and being absorbed in response to stresses put on the skeleton. In PDB, cells that absorb bone are overactive. In turn, cells that form bone overcompensate. Patients with PDB can suffer from bone pain, brittle bones susceptible to fractures, and advanced arthritis.
Stuart Ralston and colleagues studied 1250 patients with CDB and identified three genetic loci associated with risk of PDB.