Copy number variation and osteoporosis

Abstract

Purpose of Review: The purpose of this review is to summarize recent findings on copy number variations and susceptibility to osteoporosis. Recent Findings: Osteoporosis 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, and PLS3) has confirmed their importance in bone remodelling. This process has been associated also with the ETV1-DGKB, AGBL2, ATM, and GPR68 genes, identified by comparative genomic hybridisation microarray studies. Importantly, studies in patients with bone pathologies have associated bone disease with the long non-coding RNA LINC01260 and enhancer sequences residing in the HDAC9 gene. Summary: Further functional investigation of genetic loci harbouring CNVs associated with skeletal phenotypes will reveal their role as molecular drivers of osteoporosis.

Keywords

variacije števila kopij;mineralna gostota kosti;zlomi zaradi krhkosti;strukturne variacije;copy number variation;osteoporosis;bone mineral density;fragility fractures;structural variations;

Data

Language:	English
Year of publishing:	2023
Typology:	1.01 - Original Scientific Article
Organization:	UL FFA - Faculty of Pharmacy
UDC:	616.71-007.234
COBISS:	141730307
ISSN:	1544-2241
Views:	19
Downloads:	5
Average score:	0 (0 votes)
Metadata:

Other data

Secondary language:	Slovenian
Secondary keywords:	Osteoporoza;
Type (COBISS):	Article
Pages:	<v tisku>
Volume:	ǂVol. ǂ
Issue:	art. 773
Chronology:	2023
DOI:	10.1007/s11914-023-00773-y
ID:	19495873