Paget’s bone disease (PBD) is characterized by increased bone remodeling, bone hypertrophy and abnormal bone structure that leads, in symptomatic patients, to pain and bone deformity. The prevalence of this condition increases with age and, according to same previous studies, the mortality of PBD patients could be below to that observed in the general population. On the other hand, cardiovascular (CV) diseases are the first cause of mortality in our region.
In 2009, conducted a study to assess cardiovascular risk in patients with Paget and its comparison with the general population. 113 patients were recruited from the cohort (PBD) of Salamanca and used two control groups. For the clinical assessment: 226 individuals from a study in relation to cardiovascular risk in the community of Castilla y León, with the same distribution as age and sex the study population. For genetic evaluation: 151 samples of individuals form the laboratory of Molecular Medicine, Faculty of Medicine of the University of Salamanca.
It was found lower prevalence of cardiovascular risk factors overall cardiovascular risk calculated in patients with Paget that in the control population.
In the analysis of various genes related to CV risk results were not, however, the P12A polymorphism of PPAR-Gamma gene showed twice as many patients heterozygous (CG) in patients with Paget that in the general population. This genotype has been linked in numerous studies, with reduction of diabetes mellitus, lowering of blood pressure levels and body mass index. Besides the activation of PPAR-Gamma has been linked to osteoclastogenesis.
Given these preliminary results, we meet the challenge of analyzing the different selected genes, including P12A polymorphism of PPAR-Gamma in the 226 patients used as clinical controls and to check whether the observed differences remain.