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Copy number variation and osteoporosis
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Lovšin, Nika
(
Author
)
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MD5: 39187BC02A93F4DECB7F7D266E95FB7D
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https://link.springer.com/article/10.1007/s11914-023-00773-y
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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.
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
Views:
898
Downloads:
54
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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
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Name:
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Funder:
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Project number:
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Funder:
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