Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget’s Disease of Bone and Modifies the Age of Onset

Author:

De Ridder RaphaëlORCID,Boudin Eveline,Vandeweyer Geert,Devogelaer Jean-Pierre,Fransen Erik,Mortier Geert,Van Hul Wim

Funder

Fonds Wetenschappelijk Onderzoek

Seventh Framework Programme

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference39 articles.

1. Alonso N, Calero-Paniagua I, Del Pino-Montes J (2017) Clinical and genetic advances in Paget’s disease of bone: a review. Clin Rev Bone Miner Metab 15(1):37–48. https://doi.org/10.1007/s12018-016-9226-0

2. Hocking LJ, Lucas GJ, Daroszewska A, Mangion J, Olavesen M, Cundy T, Nicholson GC, Ward L, Bennett ST, Wuyts W, Van Hul W, Ralston SH (2002) Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget’s disease. Hum Mol Genet 11(22):2735–2739

3. Laurin N, Brown JP, Morissette J, Raymond V (2002) Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet 70(6):1582–1588. https://doi.org/10.1086/340731

4. Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD, Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH, Genetic Determinants of Paget’s Disease C (2011) Genome-wide association identifies three new susceptibility loci for Paget’s disease of bone. Nat Genet 43(7):685–689. https://doi.org/10.1038/ng.845

5. Albagha OME, Visconti MR, Alonso N, Langston AL, Cundy T, Dargie R, Dunlop MG, Fraser WD, Hooper MJ, Isaia G, Nicholson GC, Montes JD, Gonzalez-Sarmiento R, di Stefano M, Tenesa A, Walsh JP, Ralston SH (2010) Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget’s disease of bone. Nat Genet 42(6):520–526. https://doi.org/10.1038/ng.562

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