Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

Journal of Bone and Mineral Research, 05/09/2013

Paget's disease of bone (PDB) has a strong genetic component. Here the authors investigated possible associations between genetic variants that predispose to PDB and disease severity. Risk allele scores and SQSTM1 mutations both predict extent and severity of PDB. It is possible that with further refinement, genetic profiling may be of clinical value in identifying individuals at high risk of severe disease who might benefit from enhanced surveillance and early intervention.

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