Flores Carlos, Ma Shwu-Fan, Maresso Karen, Ahmed Omer, Garcia Joe G N
Department of Medicine, Section of Pulmonary and Critical Care Medicine, University of Chicago, Chicago, Illinois 60637, USA.
Semin Respir Crit Care Med. 2006 Aug;27(4):389-95. doi: 10.1055/s-2006-948292.
Acute lung injury (ALI) is a complex syndrome involving the interplay of both environmental (such as the addition of mechanical ventilation) and genetic factors. Clinical models have identified risk factors for development and poor outcome but these strategies remain imprecise. To better understand the mechanisms of pathogenesis associated with mechanisms of ALI, candidate genes identified by global expression profiling or related literature searches are being explored for relevant polymorphisms (single base pair substitutions) that can affect both ALI susceptibility and outcome. This article summarizes several specific genetic association studies that have been conducted in ALI and reviews supporting data from in vitro and in vivo models of the disease and clinical observations. Although valuable information has been reported to date, intense analyses are needed in this developing discipline to assure significant clinical utility. The detailing of specific associated polymorphisms will continue to provide new insights in the understanding of disease pathogenesis, and promise to reveal novel molecular targets and personalized treatments to prevent the disease.
急性肺损伤（ALI）是一种复杂的综合征，涉及环境因素（如机械通气的应用）和遗传因素的相互作用。临床模型已经确定了ALI发生发展及预后不良的危险因素，但这些方法仍不够精确。为了更好地理解与ALI发病机制相关的机制，正在探索通过全基因组表达谱分析或相关文献检索确定的候选基因，以寻找可能影响ALI易感性和预后的相关多态性（单碱基对替换）。本文总结了几项针对ALI开展的具体基因关联研究，并回顾了来自该疾病体外和体内模型及临床观察的支持数据。尽管迄今为止已报道了有价值的信息，但在这一新兴学科中仍需要深入分析，以确保具有显著的临床实用性。详细阐述特定的相关多态性将继续为理解疾病发病机制提供新的见解，并有望揭示新的分子靶点和个性化治疗方法以预防该疾病。
