Although chronic obstructive pulmonary disease (COPD) risk is strongly influenced by cigarette smoking, genetic factors are also important determinants of COPD. In addition to Mendelian syndromes such as alpha-1 antitrypsin deficiency, many genomic regions that influence COPD susceptibility have been identified in genome-wide association studies. Similarly, multiple genomic regions associated with COPD-related phenotypes, such as quantitative emphysema measures, have been found. Identifying the functional variants and key genes within these association regions remains a major challenge. However, newly identified COPD susceptibility genes are already providing novel insights into COPD pathogenesis. Network-based approaches that leverage these genetic discoveries have the potential to assist in decoding the complex genetic architecture of COPD.

中文翻译：

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慢性阻塞性肺病的遗传学。

尽管慢性阻塞性肺疾病（COPD）的风险受到吸烟的强烈影响，但遗传因素也是COPD的重要决定因素。除了诸如α-1抗胰蛋白酶缺乏症等孟德尔综合症外，在全基因组关联研究中还发现了许多影响COPD敏感性的基因组区域。类似地，已经发现了与COPD相关表型相关的多个基因组区域，例如定量性肺气肿量。鉴定这些结合区域内的功能变体和关键基因仍然是主要挑战。然而，新发现的COPD易感基因已经为COPD发病机理提供了新的见解。利用这些遗传发现的基于网络的方法有潜力协助解码COPD的复杂遗传结构。