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

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Albagha, Omar M E [] Wani, Sachin E [] Visconti, Micaela R [] Alonso, Nerea [] Goodman, Kirsteen [] Devogelaer, Jean-Pierre [UCL] Ralston, Stuart H []

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.

Document type Article de périodique (Journal article) – Comparative Study, Journal Article, Research Support, Non-U.S. Gov't
Publication date 2011
Language Anglais
Journal information "Nature Genetics" - Vol. 43, no. 7, p. 685-9 (2011)
Peer reviewed yes
Publisher Nature Publishing Group ((United States) New York)
issn 1061-4036
e-issn 1546-1718
Affiliations UCL - (SLuc) Service de rhumatologie
UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales
MESH Subject Aged ; Asian Continental Ancestry Group - genetics ; Male ; Osteitis Deformans - genetics ; Polymorphism, Single Nucleotide - genetics ; Prognosis ; Risk Factors ; Case-Control Studies ; Chromosomes, Human, Pair 15 - genetics ; Chromosomes, Human, Pair 7 - genetics ; Female ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans
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Bibliographic reference Albagha, Omar M E ; Wani, Sachin E ; Visconti, Micaela R ; Alonso, Nerea ; Goodman, Kirsteen ; et. al. Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.. In: Nature Genetics, Vol. 43, no. 7, p. 685-9 (2011)
Permanent URL http://hdl.handle.net/2078.1/106263