Article
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
Nature genetics - 1 Jun 2010
Albagha Omar M E, Visconti Micaela R, Alonso Nerea, Langston Anne L, Cundy Tim, Dargie Rosemary, Dunlop Malcolm G, Fraser William D, Hooper Michael J, Isaia Gianluca, Nicholson Geoff C, del Pino Montes Javier, Gonzalez-Sarmiento Rogelio, di Stefano Marco, Tenesa Albert, Walsh John P, Ralston Stuart H
Abstract excerpt
Paget's disease of bone (PDB) is a common disorder with a strong genetic component characterized by focal increases in bone turnover, which in some cases is caused by mutations in SQSTM1. To identify additional susceptibility genes, we performed a genome-wide association study in 750 individuals with PDB (cases) without SQSTM1 mutations and 1,002 controls and identified three candidate disease loci, which were...
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