Copy number variation and osteoporosis

Povzetek

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.

Ključne besede

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

Podatki

Jezik:	Angleški jezik
Leto izida:	2023
Tipologija:	1.01 - Izvirni znanstveni članek
Organizacija:	UL FFA - Fakulteta za farmacijo
UDK:	616.71-007.234
COBISS:	141730307
ISSN:	1544-2241
Št. ogledov:	19
Št. prenosov:	5
Ocena:	0 (0 glasov)
Metapodatki:

Ostali podatki

Sekundarni jezik:	Slovenski jezik
Sekundarne ključne besede:	Osteoporoza;
Vrsta dela (COBISS):	Članek v reviji
Strani:	<v tisku>
Letnik:	ǂVol. ǂ
Zvezek:	art. 773
Čas izdaje:	2023
DOI:	10.1007/s11914-023-00773-y
ID:	19495873