Reduced CpG island methylation of the TBC1D8 gene may predict risk for osteoporosis in Chinese postmenopausal women

Abstract

ABSTRACT

DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review

“…This epigenetic regulatory mechanism could interfere with the expression of downstream genes involved in the BMP2 signaling pathway, resulting in altered osteoblastogenesis and bone formation [ 17 ]. Another gene-specific DNA methylation study investigated the epigenetic role of the cTBC1 Domain Family Member 8 gene (TBC1D8) , previously identified by a genome-wide association study as a novel susceptibility locus for OP-related traits [ 18 ]. The TBC1D8 gene is one of the human protein molecular activity regulatory genes and represents an activator of the Guanosine Triphosphate (GTP) enzyme.…”

“…The TBC1D8 gene is one of the human protein molecular activity regulatory genes and represents an activator of the Guanosine Triphosphate (GTP) enzyme. Epigenetic analysis performed in a cohort of postmenopausal Chinese women revealed decreased methylation of the TBCF1D8 gene promoter CpG island in 30 OP patients (n = 30) compared to healthy subjects (n = 30), suggesting new avenues of investigation into the functional role of this gene in OP pathogenesis [ 18 ]. A major contribution to this field is provided by Epigenome-Wide DNA Association Studies (EWAS), which examine a genome-wide set of quantifiable epigenetic marks, including DNA methylation.…”