Polymorphisms in genes implicated in base excision repair (BER) pathway are associated with susceptibility to Paget's disease of bone

Paget's disease of bone (PDB) is a chronic bone metabolic disorder. Currently, PDB is the second most frequent bone disorder. PDB is a focal disorder affecting the skeleton segmentally but the cause of which is unknown. It has been hypothesised that somatic mutations could be responsible for the mosaicism described in PDB patients. Therefore, our hypothesis is that defective response to DNA damage may lead to somatic mutations favouring an increased risk of PDB. So that we have analysed polymorphisms in DNA repair genes involved in the BER, NER and DSBR pathways in order to evaluate the role of these variants in modulating PDB risk.

Source: Bone - April 6, 2018 Category: Orthopaedics Authors: Ricardo Usategui-Mart ín, Carlos Gutiérrez-Cerrajero, Sonia Jiménez-Vázquez, Ismael Calero-Paniagua, Judit García-Aparicio, Luis Corral-Gudino, Javier del Pino-Montes, Rogelio González-Sarmiento Tags: Full Length Article Source Type: research