Copy number variation and osteoporosis

Lovšin, Nika (author)

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.

• Language: English
• Keywords: copy number variation, osteoporosis, bone mineral density, fragility fractures, structural variations
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: FFA - Faculty of Pharmacy
• Publication status: Published
• Publication version: Version of Record
• Year: 2023
• Number of pages: Str. 167–172
• Numbering: Vol. 21, iss. 2
• PID: 20.500.12556/RUL-147573
• UDC: 616.71-007.234
• ISSN on article: 1544-2241
• DOI: 10.1007/s11914-023-00773-y
• COBISS.SI-ID: 141730307
• Publication date in RUL: 07.07.2023

Record is a part of a journal

• Title: Current osteoporosis reports
• Publisher: Springer Nature
• ISSN: 1544-2241
• COBISS.SI-ID: 513654297

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: variacije števila kopij, mineralna gostota kosti, zlomi zaradi krhkosti, strukturne variacije, osteoporoza