Applying Functional Genomics to Chronic Obstructive Pulmonary Disease.
Applying Functional Genomics to Chronic Obstructive Pulmonary Disease.
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功能基因组学在慢性阻塞性肺疾病中的应用
DOI：
10.1513/annalsats.201808-530mg
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发表时间：
2018-12
影响因子：
8.3
通讯作者：
E. Silverman
中科院分区：
文献类型：
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作者：
E. Silverman
全基因组关联研究（GWAS）已经确定了20多个与慢性阻塞性肺疾病（COPD）易感性相关的基因组区域。然而，这些COPD GWAS基因座内的功能性遗传变异在很大程度上仍未确定，因此限制了这些GWAS发现对新疾病见解的转化。全外显子组和全基因组测序研究有可能确定COPD的罕见遗传决定因素。了解新型COPD遗传基因座的生物学效应的努力包括基因靶向小鼠模型，整合其他组学数据（包括转录组学和表观遗传学）和功能变体鉴定。COPD遗传决定因素可能通过生物网络起作用，并且各种基于网络的方法已用于深入了解COPD易感性和异质性。
Genome-wide association studies (GWAS) have identified more than 20 genomic regions associated with chronic obstructive pulmonary disease (COPD) susceptibility. However, the functional genetic variants within these COPD GWAS loci remain largely unidentified, thus limiting translation of these GWAS discoveries to new disease insights. Whole-exome and whole-genome sequencing studies have the potential to identify rare genetic determinants of COPD. Efforts to understand the biological effects of novel COPD genetic loci include gene-targeted murine models, integration of additional omics data (including transcriptomics and epigenetics), and functional variant identification. COPD genetic determinants likely act through biological networks, and a variety of network-based approaches have been used to gain insights into COPD susceptibility and heterogeneity.