Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.

doi:10.1002/jbmr.1975

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Article

Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2013

Albagha Omar M E, Visconti Micaela Rios, Alonso Nerea, Wani Sachin, Goodman Kirsteen, Fraser William D, Gennari Luigi, Merlotti Daniela, Gianfrancesco Fernando, Esposito Teresa, Rendina Domenico, di Stefano Marco, Isaia Giancarlo, Brandi Maria Luisa, Giusti Francesca, Del Pino-Montes Javier, Corral-Gudino Luis, Gonzalez-Sarmiento Rogelio, Ward Lynley, Rea Sarah L, Ratajczak Thomas, Walsh John P, Ralston Stuart H

Abstract excerpt

Paget's disease of bone (PDB) has a strong genetic component. Here, we investigated possible associations between genetic variants that predispose to PDB and disease severity. Allelic variants identified as predictors of PDB from genome-wide association studies were analyzed in 1940 PDB patients from the United Kingdom, Italy, Western Australia, and Spain. A cumulative risk allele score was constructed by adding...

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PMID: 23658060
DOI: 10.1002/jbmr.1975

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SQSTM1

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