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