Copy Number Variation and Osteoporosis

AbstractPurpose of ReviewThe purpose of this review is to summarize recent findings on copy number variations and susceptibility to osteoporosis.Recent FindingsOsteoporosis is highly influenced by genetic factors, including copy number variations (CNVs). The development and accessibility of whole genome sequencing methods has accelerated the study of CNVs and osteoporosis. Recent findings include mutations in novel genes and validation of previously known pathogenic CNVs in monogenic skeletal diseases. Identification of CNVs in genes previously associated with osteoporosis (e.g.RUNX2,COL1A2, andPLS3) has confirmed their importance in bone remodelling. This process has been associated also with theETV1-DGKB,AGBL2,ATM, andGPR68 genes, identified by comparative genomic hybridisation microarray studies. Importantly, studies in patients with bone pathologies have associated bone disease with the long non-coding RNALINC01260 and enhancer sequences residing in theHDAC9 gene.SummaryFurther functional investigation of genetic loci harbouring CNVs associated with skeletal phenotypes will reveal their role as molecular drivers of osteoporosis.
Source: Current Osteoporosis Reports - Category: Orthopaedics Source Type: research