Searchable abstracts of presentations at key conferences on calcified tissues

ba0003oc4.4 | Genetics of bone disease | ECTS2014

Variants in RIN3 predispose to Paget's disease of bone

Vallet Maheva , Sophocleous Antonia , Warner Jon , Morris Stewart W , Wilson James F , Albagha Omar ME , Ralston Stuart H

Background: Paget’s disease of Bone (PDB) has a strong genetic component and a candidate locus for the disease has been identified on chromosome 14q32, tagged by rs10498635 located within RIN3 (Albagha et al, Nat Genet 2011). RIN3 encodes a protein that acts as a guanine nucleotide exchange factor for Rab5b and Rab31. Here we investigated the candidacy of RIN3 as a predisposing gene for PDB.Methods: We studied expression of RIN3 by quantita...