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Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
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Background: Optineurin (OPTN) is a gene located in chromosome 10 that has been associated with several pathologies,
including Paget’s disease of bone (PDB). Using DNA samples
from our cohort of PDB patients we have found two SNPs in
OPTN promoter (rs3829923 and RV -9906) that could alter OPTN
expression. However little is known about the role of this gene
in bone and how this gene is regulated.