RT info:eu-repo/semantics/article
T1 Polymorphisms in genes implicated in base excision repair (BER) pathway are associated with susceptibility to Paget's disease of bone
A1 Usategui Martín, Ricardo
A1 Gutiérrez-Cerrajero, Carlos
A1 Jiménez-Vázquez, Sonia
A1 Calero-Paniagua, Ismael
A1 García-Aparicio, Judit
A1 Corral Gudino, Luis
A1 del Pino-Montes, Javier
A1 González Sarmiento, Rogelio
K1 APEX; BER pathway; DNA repair; Paget's disease of bone; Polymorphisms; XRCC
K1 3205 Medicina Interna
AB 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. We found statistically significant differences in genotypic and allelic distribution for polymorphisms in genes implicated in the BER pathway. Our results showed that carrying the allele T of XRCC1 rs1799782 polymorphism and the allele G of APEX rs1130409 polymorphism increased the risk of developing PDB. These polymorphisms could cause a lower DNA repair efficiency and this might lead to local somatic mutations favouring bone metabolic alterations characteristic of PDB. This is the first report showing an association between polymorphism in genes implicated in the BER pathway with PDB.
PB Elsevier
SN 8756-3282
YR 2018
FD 2018
LK https://uvadoc.uva.es/handle/10324/65044
UL https://uvadoc.uva.es/handle/10324/65044
LA eng
NO Bone, Julio 2018, vol. 112, p. 19-23
NO Producción Científica
DS UVaDOC
RD 14-jul-2024