Using "-omics" Data to Inform Genome-wide Association Studies (GWASs) in the Osteoporosis Field.

Using "-omics" Data to Inform Genome-wide Association Studies (GWASs) in the Osteoporosis Field.
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DOI:
10.1007/s11914-021-00684-w
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发表时间:
2021-08
影响因子:
4.3
通讯作者:
Farber CR
Farber CR
中科院分区:
医学2区
文献类型:
--
作者:
Abood A;Farber CR

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骨质疏松症是一个重大的社会健康问题。全基因组关联研究(GWASs)已经确定了超过1100个影响骨密度(BMD)的基因座,然而,很少有致病基因被确定。在这里,我们回顾的方法,使用“组学”的数据和遗传和系统遗传学为基础的分析策略,以促进因果基因的发现。骨领域开始采用在其他疾病学科中常见的方法。进展缓慢的部分原因是缺乏关于骨和骨细胞的大规模“组学”数据。然而,这种情况正在发生变化,诸如eQTL共定位、全转录组关联研究(TWAS)、网络和综合方法等方法开始为负责BMD GWAS关联的基因提供重要见解。近年来,使用“组学”数据来告知BMD GWAS的情况有所增加,从而确定了人体BMD的新调节剂。最终目标是利用这些信息开发更有效的治疗方法,以治疗并最终预防骨质疏松症。
Osteoporosis constitutes a major societal health problem. Genome-wide association studies (GWASs) have identified over 1100 loci influencing bone mineral density (BMD); however, few of the causal genes have been identified. Here, we review approaches that use “-omics” data and genetic- and systems genetics–based analytical strategies to facilitate causal gene discovery. The bone field is beginning to adopt approaches that are commonplace in other disease disciplines. The slower progress has been due in part to the lack of large-scale “omics” data on bone and bone cells. This is however changing, and approaches such as eQTL colocalization, transcriptome-wide association studies (TWASs), network, and integrative approaches are beginning to provide significant insight into the genes responsible for BMD GWAS associations. The use of “-omics” data to inform BMD GWASs has increased in recent years, leading to the identification of novel regulators of BMD in humans. The ultimate goal will be to use this information to develop more effective therapies to treat and ultimately prevent osteoporosis.
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