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Approved research

Genetic determinants of Paget's disease

Principal Investigator: Professor Stuart Ralston
Approved Research ID: 4816
Approval date: April 24th 2018

Lay summary

Genetic factors play a key role in the pathogenesis of Paget's disease of bone (PDB) and several genetic variants have been identified in case control studies that are ossiated with Paget's disease. The aims of this proposal are two fold: Aim 1) To determine whether the genetic variants that predispose to PDB can be used to predict occurrence of the disease in the UK Biobank population 2) To use the Biobank UK population as controls for an extended GWAS in which seeks to identify new loci for PDB susceptibilty The project is consistent with the aims of biobank which is to `improve the prevention, diagnosis and treatment of illnesses and promote health thoughout society`. The studies may result in new genetic markers for these PDB as well as improving understanding of pathophysiology Aim 1). We will identify biobank participants who develop a new diagnosis of PDB at age 66, 65, and 70 and compare their characteristics (genetic variants the predispose to PDB as well as lifestyle variables) to try and develop a score that can predict the risk of the disease occurring. Aim 2). We will obtain GWAS data in Biobank subjects not known to have developed PDB and use these subjects as controls in an extended GWAS for PDB. All participants (for Aim 1) 7000 control participants (for Aim 2)