拷贝数变异与骨质疏松症。

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Current Osteoporosis Reports Pub Date : 2023-04-01 Epub Date: 2023-02-16 DOI:10.1007/s11914-023-00773-y
Nika Lovšin
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引用次数: 1

摘要

综述的目的:本综述的目的是总结最近关于拷贝数变异和骨质疏松易感性的研究结果。最近的发现:骨质疏松症受到遗传因素的高度影响,包括拷贝数变异(CNVs)。全基因组测序方法的发展和可及性加速了CNVs和骨质疏松症的研究。最近的发现包括新基因的突变和先前已知的致病性CNVs在单基因骨骼疾病中的验证。在先前与骨质疏松症相关的基因(例如RUNX2、COL1A2和PLS3)中鉴定CNVs已经证实了它们在骨重塑中的重要性。这一过程也与ETV1-DGKB、AGBL2、ATM和GPR68基因有关,通过比较基因组杂交微阵列研究鉴定。重要的是,对骨骼病理患者的研究表明,骨骼疾病与HDAC9基因中的长非编码RNA LINC01260和增强子序列有关。对携带与骨骼表型相关的CNVs的遗传基因座的进一步功能研究将揭示它们作为骨质疏松症分子驱动因素的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Copy Number Variation and Osteoporosis.

Copy Number Variation and Osteoporosis.

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. Further functional investigation of genetic loci harbouring CNVs associated with skeletal phenotypes will reveal their role as molecular drivers of osteoporosis.

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来源期刊
Current Osteoporosis Reports
Current Osteoporosis Reports Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
8.80
自引率
2.30%
发文量
44
期刊介绍: This journal intends to provide clear, insightful, balanced contributions by international experts that review the most important, recently published clinical findings related to the diagnosis, treatment, management, and prevention of osteoporosis. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as current and future therapeutics, epidemiology and pathophysiology, and evaluation and management. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research. Commentaries from well-known figures in the field are also provided.
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