The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease.

ABSTRACT: Gaucher disease, the most common lysosomal storage disorder, is caused by β-glucocerebrosidase deficiency. Bone complications are the major cause of morbidity in patients with type 1 Gaucher disease (GD1). Genetic components strongly influence bone remodelling. In addition, chronic inflammation produced by Gaucher cells induces the production of several cytokines, which leads to direct changes in the bone remodelling process and can also affect the process indirectly through other immune cells. In this study, we analysed the association between bone mineral density (BMD), bone marrow burden score, and relevant genetic polymorphisms related to bone metabolism, as well as profiles of proinflammatory cytokines in a GD1 cohort. This study included 83 patients distributed according to bone stat

SUBMITTER: Gervas-Arruga J 

PROVIDER: S-EPMC4433334 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature