脓毒症的基因多态性研究

尽管脓毒症的诊断和治疗取得了长足进步,但严重脓毒症和脓毒性休克的病死率仍居高不下.社会人口统计学和临床风险因素预测模型不能完全解释为什么在遭受相似程度打击后,有些人群易于发生脓毒症和多器官功能障碍综合征,有的患者却病情较轻而易于恢复.近年来,人们认识到遗传因素会影响脓毒症的易感性和预后.随着人类基因组计划和国际人类基因组单体型图计划的完成,脓毒症的遗传易感基因研究成为当前国内外研究的热点和焦点.基因多态性研究可以加深对脓毒症的发生、发展机制的认识,提供更精确的个体化靶向治疗措施.本文就基因多态性研究的相关概念、方法和在脓毒症基因关联研究中的策略及存在的问题作简要概述.

Gene polymorphisms association studies in sepsis

Although significant advances have been made in both the development of therapeutic strate-gies and the understanding of pathophysiological mechanisms of sepsis, the mortality of severe sepsis and septic shock still remains unacceptably high worldwide. Current prediction models based on socio-demo-graphic and clinical risk factors fail to explain fully why a particular patient either develops or succumbs to sepsis. In recent years epidemiological studies have suggested a strong genetic relationship on the suscepti-bility and outcome of sepsis. With the completion of Human Genome Project and International HapMap Pro-ject, the identification of susceptibal genes contributing to sepsis may allow more precise use of interven-tions, such as targeted therapy of sepsis is an appealing strategy. In this review, we summarize a broad over-view of genetic nomenclature, study designs, and problems of these genetic association studies.