Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Semin Respir Crit Care Med. 2013 Aug;34(4):459-74. doi: 10.1055/s-0033-1351121. Epub 2013 Aug 11.
Genetic variation explains some of the observed heterogeneity in patients' risk for developing the acute respiratory distress syndrome (ARDS). Although the lack of extant family pedigrees for ARDS precludes an estimate of heritability of the syndrome, ARDS may function as a pattern of response to injury or infection, traits that exhibit strong heritability. A total of 34 genes have now been reported to influence ARDS susceptibility, the majority of which arose as candidate genes based on the current pathophysiological understanding of ARDS, with particular focus on inflammation and endothelial or epithelial injury. In addition, novel candidate genes have emerged from agnostic genetic approaches, including genome-wide association studies, orthologous gene expression profiling across animal models of lung injury, and human peripheral blood gene expression data. The genetic risk for ARDS seems to vary both by ancestry and by the subtype of ARDS, suggesting that both factors may be valid considerations in clinical trial design.
遗传变异解释了患者发生急性呼吸窘迫综合征（ARDS）风险的部分观察到的异质性。尽管目前缺乏 ARDS 的家族系谱，无法估计该综合征的遗传性，但 ARDS 可能是对损伤或感染的反应模式，这种特征具有很强的遗传性。现在已经有 34 个基因被报道影响 ARDS 的易感性，其中大多数是根据目前对 ARDS 的病理生理学理解作为候选基因出现的，特别关注炎症和内皮或上皮损伤。此外，来自非特定基因方法的新候选基因已经出现，包括全基因组关联研究、肺损伤动物模型的同源基因表达谱分析以及人类外周血基因表达数据。ARDS 的遗传风险似乎既因祖源而异，也因 ARDS 的亚型而异，这表明这两个因素都可能是临床试验设计中的有效考虑因素。
