Article
Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms.
Molecular genetics and metabolism - 1 Jul 2011
Chung Pui Yan Jenny, Beyens Greet, de Freitas Fenna, Boonen Steven, Geusens Piet, Vanhoenacker Filip, Verbruggen Leon, 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, after osteoporosis, the second most common metabolic bone disorder in the elderly Caucasian population. Mutations in the sequestosome 1 gene (SQSTM1) are responsible for the etiology of PDB in a subset of patients, but the disease pathogenesis in the remaining PDB patients is still unknown. Therefore association studies investigating the relationship between genetic polymorphisms...
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