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 Papapoulos; Javier del Pino Montes; Thomas Ratajczak; Sarah L. Rea; Domenico Rendina; Rogelio Gonzalez-Sarmiento; Marco Di Stefano; Lynley C. Ward; John P. Walsh; Stuart H. Ralston; Genetic Determinants Pagets Dis

doi:10.1038/ng.845

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

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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, …

Nature genetics, Vol.43(7), pp.685-U104

01/07/2011

DOI: https://doi.org/10.1038/ng.845

PMID: 21623375

Résumé

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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(1). 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 x 10(-14)), rs10498635 within RIN3 on 14q32 (OR = 1.44, P = 2.55 x 10(-11)) and rs4294134 within NUP205 on 7q33 (OR = 1.45, P = 8.45 x 10(-10)). Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 x 10(-17)) with PDB. These seven loci explained similar to 13% of the familial risk of PDB. These studies provide new insights into the genetic architecture and pathophysiology of PDB.

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Titre: Genome-wide association identifies three new susceptibility loci for Paget's disease of bone
Créateurs - sans rôle: Omar M. E. Albagha - Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Rheumat Dis Unit, Edinburgh, Midlothian, Scotland
Sachin E. Wani - Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Rheumat Dis Unit, Edinburgh, Midlothian, Scotland
Micaela R. Visconti - Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Rheumat Dis Unit, Edinburgh, Midlothian, Scotland
Nerea Alonso - Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Rheumat Dis Unit, Edinburgh, Midlothian, Scotland
Kirsteen Goodman - Univ Edinburgh, Western Gen Hosp, Edinburgh Clin Trials Unit, Edinburgh, Midlothian, Scotland
Maria Luisa Brandi - Univ Florence, Dept Internal Med, Florence, Italy
Tim Cundy - Univ Auckland, Dept Med, Auckland, New Zealand
Pui Yan Jenny Chung - Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium
Rosemary Dargie - Glasgow Royal Infirm, Univ Dept Med, Glasgow G4 0SF, Lanark, Scotland
Jean-Pierre Devogelaer - Catholic Univ Louvain, St Luc Univ Hosp, Dept Rheumatol, Brussels, Belgium
Alberto Falchetti - Univ Florence, Dept Internal Med, Florence, Italy
William D. Fraser - Royal Liverpool Univ Hosp, Dept Clin Chem, Liverpool, Merseyside, England
Luigi Gennari - Univ Siena, Dept Internal Med Endocrine Metab Sci & Biochem, I-53100 Siena, Italy
Fernando Gianfrancesco - Italian Natl Res Council, Inst Genet & Biophys Adriano Buzzati Traverso, Naples, Italy
Michael J. Hooper - Univ Sydney, Dept Med, Sydney, NSW 2006, Australia
Wim Van Hul - University of Antwerp
Gianluca Isaia - Univ Turin, Geriatr Sect, Dept Med & Surg, Turin, Italy
Geoff C. Nicholson - Univ Melbourne, Geelong Hosp, Dept Clin & Biomed Sci, Melbourne, Vic, Australia
Ranuccio Nuti - Univ Siena, Dept Internal Med Endocrine Metab Sci & Biochem, I-53100 Siena, Italy
Socrates Papapoulos - Leiden Univ, Med Ctr, Dept Endocrinol & Metab Dis, Leiden, Netherlands
Javier del Pino Montes - Univ Salamanca, Dept Med, Hosp Univ Salamanca, Serv Reumatol, E-37008 Salamanca, Spain
Thomas Ratajczak - Sir Charles Gairdner Hosp, Dept Endocrinol & Diabet, Nedlands, WA 6009, Australia
Sarah L. Rea - Sir Charles Gairdner Hosp, Dept Endocrinol & Diabet, Nedlands, WA 6009, Australia
Domenico Rendina - Univ Naples Federico II, Dept Clin & Expt Med, Naples, Italy
Rogelio Gonzalez-Sarmiento - Univ Salamanca, CSIC, Unidad Med Mol, Dept Med,Inst Biol Mol & Celular Canc, E-37008 Salamanca, Spain
Marco Di Stefano - Univ Turin, Geriatr Sect, Dept Med & Surg, Turin, Italy
Lynley C. Ward - Sir Charles Gairdner Hosp, Dept Endocrinol & Diabet, Nedlands, WA 6009, Australia
John P. Walsh - Sir Charles Gairdner Hosp, Dept Endocrinol & Diabet, Nedlands, WA 6009, Australia
Stuart H. Ralston - Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Rheumat Dis Unit, Edinburgh, Midlothian, Scotland
Genetic Determinants Pagets Dis
Détails de publication: Nature genetics, Vol.43(7), pp.685-U104
Éditeur: Springer Nature
Nombre de pages: 7
Note de subvention: European Union; European Union (EU) Redes Tematicas de Investigacion Cooperativa en Envejecimiento y Fragilidad (RETICEF) G0801462 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) G0801462 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) 076113; 085475 / Wellcome Trust Paget's Association 18304 / Versus Arthritis 13724; 17646; 15389; 19520 / Arthritis Research UK; Versus Arthritis G.0065.10N / 'Fonds voor Wetenschappelijk onderzoek' (FWO); FWO
Identifiants: 99159175309311
Unité académique: Institut de Génétique Humaine - IGH
Langue: English
Type de ressource: Journal article