CORDIS Project
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This project investigates the genetic and epigenetic factors contributing to Paget’s disease of bone. By identifying mutations and studying DNA methylation patterns, it aims to enhance understanding of the disease mechanisms and develop potential therapeutic targets.
Paget’s disease of bone (PDB) is a common disease characterised by focal areas of increased bone turnover leading to symptoms of bone pain, deformity, osteoarthritis and other complications.
Genetic factors play an important role in PDB and mutations in SQSTM1 gene are responsible for ~10% of PDB cases with high penetrance.
We have recently identified seven additional susceptibility loci for PDB using genome-wide association studies (Albagha et al, 2011;
Nat Genet).
These recently identified loc…
THE UNIVERSITY OF EDINBURGH
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