Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants

Silva, I. A. L.; Michou, L.; Cancela, M. Leonor; Conceição, Natércia

http://hdl.handle.net/10400.1/9534

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Abstract(s)

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.