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ba0005p442 | Other diseases of bone and mineral metabolism | ECTS2016

Investigation of the Paget’s disease susceptibility locus on chromosome 15q24 using targeted next generation DNA sequencing approach

Wani Sachin , Ralston Stuart , Albagha Omar

Pagets disease of bone (PDB) is a common disease characterised by focal abnormalities in bone turnover. Previous GWAS identified a susceptibility locus for PDB on chromosome 15q24 tagged by a coding SNP rs5742915 (p.Phe645Leu) located in PML. The aim of this study was to fine map this locus to identify functional genetic variants that predispose to PDB using targeted DNA sequencing and functional analysis in bone cells.A 200 kb region surr...

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ba0001ni6 | (1) | ECTS2013

Depletion of the autophagy adaptor OPTN leads to increased osteoclast formation, fusion and survival as well as increased NF-κB activation in vitro

Obaid Rami , Wani Sachin , Ralston Stuart , Albagha Omar

see PP230....

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ba0001pp230 | Cell biology: osteoclasts and bone resorption | ECTS2013

Depletion of the autophagy adaptor OPTN leads to increased osteoclast formation, fusion and survival as well as increased NF-κB activation in vitro

Obaid Rami , Wani Sachin , Ralston Stuart , Albagha Omar

OPTN encodes a cytoplasmic protein optineurin which has been shown to play a role in autophagy. Recent GWAS studies have shown that variants within OPTN are associated with the risk of Pagets disease of bone, a disease characterized by focal areas of increased bone turnover due to increased osteoclast activity, suggesting a possible role of OPTN in the regulation of bone metabolism.The aim of this study was to investigate the role of optineurin in ...

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ba0005oc5.4 | Risk factors for fracture, Pagets disease of bone and musle and bone | ECTS2016

Fine mapping of the chromosome 1p13 locus for susceptibility to Paget's disease of bone

Abdullah Fawaaz , Jin Huilin , Wani Sachin , Albagha Omar , Ralston Stuart

Introduction: Pagets disease of bone (PDB) is a common disorder characterised by increased and disorganised bone remodelling. Previous genome wide association studies identified a locus for susceptibility to PDB on chromosome 1p13, tagged by rs484959 which lies 87 kb upstream of the CSF1 gene. This is a strong candidate for PDB since it encodes macrophage colony-stimulating factor (M-CSF) a critical cytokine for osteoclast formation and survival.Pu...

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ba0001op37 | Pre-Clinical | ECTS2013

The D477N mutation in OPTN leads to increased bone turnover and enhanced osteoclast formation in Optn^D477N/D477N mice

Wani Sachin , Obaid Rami , Jones Ruth , Cohen Philip , Ralston Stuart , Albagha Omar

see PP229....

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ba0001pp229 | Cell biology: osteoclasts and bone resorption | ECTS2013

The D477N mutation in OPTN leads to increased bone turnover and enhanced osteoclast formation in Optn^D477N/D477N mice

Wani Sachin , Obaid Rami , Jones Ruth , Cohen Philip , Ralston Stuart , Albagha Omar

Recent GWAS have identified variants in the OPTN gene that predispose to Pagets disease of Bone (PDB), a disease characterised by focal areas of increased bone turnover and enhanced osteoclast activity, suggesting a role for this gene in bone metabolism. The aim of this study was to investigate the role of OPTN in bone metabolism using a mouse model (OptnD477N/D477N) which harbours a D477N point mutation in the polyubiquitin binding ...

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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: 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...

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Bone Abstracts

Investigation of the Paget’s disease susceptibility locus on chromosome 15q24 using targeted next generation DNA sequencing approach

Depletion of the autophagy adaptor OPTN leads to increased osteoclast formation, fusion and survival as well as increased NF-κB activation in vitro

Depletion of the autophagy adaptor OPTN leads to increased osteoclast formation, fusion and survival as well as increased NF-κB activation in vitro

Fine mapping of the chromosome 1p13 locus for susceptibility to Paget's disease of bone

The D477N mutation in OPTN leads to increased bone turnover and enhanced osteoclast formation in Optn^D477N/D477N mice

The D477N mutation in OPTN leads to increased bone turnover and enhanced osteoclast formation in Optn^D477N/D477N mice

Variants in RIN3 predispose to Paget's disease of bone

BiosciAbstracts