Evaluation of the role of RANK and OPG genes in Paget’s disease of bone

摘要: Abstract Paget’s disease of bone (PDB) is one the most common disorders in western world. PDB characterized by focal areas increased osteoclastic resorption and formation, which leads to formation poorly structured bone. These abnormalities turnover structure predispose affected individuals various complications including pain, deformity, pathological fracture, an risk osteosarcoma. One main mechanisms osteoclast activation involves receptor activator nuclear factor -κB (RANK)/RANK ligand (RANKL)/osteoprotegerin (OPG) pathway, where binding RANKL RANK results differentiation precursors. OPG, on other hand, acts as inhibitor osteoclastogenesis serving a decoy for RANKL. Recently, mutations gene have been shown cause familial expansile osteolysis, rare disorder showing great similarity PDB. We performed mutation analysis OPG genes 28 patients investigate whether these could be responsible Our data suggest that not directly involved our set patients, no coding region identified allele frequencies polymorphisms did differ compared with random population. Also, gene, we detect PDB-causing mutations. However, several identified, (400 + 4 C/T intron 2), showed statistically significant frequency C suggesting harboring this may more susceptible developing