Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

Omar M.E. Albagha, Sachin E. Wani, Micaela R. Visconti, Nerea Alonso, Kirsteen Goodman, Maria Luisa Brandi, Tim Cundy, Pui Yan Jenny Chung, Rosemary Dargie, Jean-Pierre Devogelaer, Alberto Falchetti, William D. Fraser, Luigi Gennari, Fernando Gianfrancesco, Michael J. Hooper, Wim van Hul, Gianluca Isaia, Geoff C. Nicholson, Ranuccio Nuti, Socrates PapapoulosJavier del Pino Montes, Thomas Ratajczak, Sarah L. Rea, Domenico Rendina, Roglio Gonzalez-Sarmiento, Marco Di Stefano, Lynley C. Ward, John P. Walsh, Stuart H. Ralston, Hermanus Bernardus Johannes Karperien

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Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of bone remodeling. We previously identified variants at the CSF1, OPTN and TNFRSF11A loci as risk factors for PDB by genome-wide association study1. Here we extended this study, identified three new loci and confirmed their association with PDB in 2,215 affected individuals (cases) and 4,370 controls from seven independent populations. The new associations were with rs5742915 within PML on 15q24 (odds ratio (OR) = 1.34, P = 1.6 × 10−14), rs10498635 within RIN3 on 14q32 (OR = 1.44, P = 2.55 × 10−11) and rs4294134 within NUP205 on 7q33 (OR = 1.45, P = 8.45 × 10−10). Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 × 10−17) with PDB. These seven loci explained ~13% of the familial risk of PDB. These studies provide new insights into the genetic architecture and pathophysiology of PDB.
Original languageEnglish
Pages (from-to)685-689
JournalNature genetics
Issue number7
Publication statusPublished - 2011


  • METIS-284398
  • IR-104384


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