ba0003oc4.4 | Genetics of bone disease | ECTS2014
Vallet Maheva
, Sophocleous Antonia
, Warner Jon
, Morris Stewart W
, Wilson James F
, Albagha Omar ME
, Ralston Stuart H
Background: Pagets 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...