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

Albagha, Omar M E, Wani, Sachin E, Visconti, Micaela R, Alonso, Nerea, Goodman, Kirsteen, Brandi, Maria Luisa, Cundy, Tim, Chung, Pui Yan Jenny, Dargie, Rosemary, Devogelaer, Jean-Pierre, Falchetti, Alberto, Fraser, William D, Gennari, Luigi, Gianfrancesco, Fernando, Hooper, Michael J, Van Hul, Wim, Isaia, Gianluca, Nicholson, Geoff C, Nuti, Ranuccio, Papapoulos, Socrates, Montes, Javier del Pino, Ratajczak, Thomas, Rea, Sarah L, Rendina, Domenico, Gonzalez-Sarmiento, Rogelio, Di Stefano, Marco, Ward, Lynley C, Walsh, John P and Ralston, Stuart H and Genetic Determinants of Paget's Disease (GDPD) Consortium (2011) Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. Nature Genetics, 43 (7). pp. 685-9. ISSN 1061-4036

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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 study. 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.

Item Type: Article
Uncontrolled Keywords: aged,asian continental ancestry group,case-control studies,chromosomes, human, pair 15,chromosomes, human, pair 7,female,genetic loci,genetic predisposition to disease,genome-wide association study,humans,male,osteitis deformans,polymorphism, single nucleotide,prognosis,risk factors,sdg 3 - good health and well-being ,/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Musculoskeletal Medicine
Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health
Depositing User: Pure Connector
Date Deposited: 20 Jan 2014 16:24
Last Modified: 19 Oct 2023 01:13
DOI: 10.1038/ng.845

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