Article
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.
Human genetics - 1 Dec 2010
Chung Pui Yan Jenny, Beyens Greet, Boonen Steven, Papapoulos Socrates, Geusens Piet, Karperien Marcel, Vanhoenacker Filip, Verbruggen Leon, Fransen Erik, Van Offel Jan, Goemaere Stefan, Zmierczak Hans-Georg, Westhovens René, Devogelaer Jean-Pierre, Van Hul Wim
Abstract excerpt
Paget's disease of bone (PDB) is one of the most frequent metabolic bone disorders (1-5%), next to osteoporosis, affecting individuals above age 55. Sequestosome1 mutations explain a part of the PDB patients, but still the disease pathogenesis in the remaining PDB patients is largely unknown. Therefore, association studies investigating the relationship between genetic polymorphisms and sporadic PDB have been...
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