Pena Geber, Michalski Christina, Donnelly Robert J, Qin Yong, Sifri Ziad C, Mosenthal Anne C, Livingston David H, Spolarics Zoltan
*Department of Surgery, Rutgers, New Jersey Medical School, Newark, New Jersey †Graduate School of Biomedical Sciences, Rutgers, New Jersey Medical School, Newark, New Jersey ‡Department of Pathology and Laboratory Medicine, Rutgers, New Jersey Medical School, Newark, New Jersey.
Shock. 2017 Apr;47(4):402-408. doi: 10.1097/SHK.0000000000000764.
Sex-related outcome disparities following severe trauma have been demonstrated in human and animal studies; however, sex hormone status could not fully account for the differences. This study tested whether X-linked cellular mosaicism, which is unique to females, could represent a genetically based mechanism contributing to sex-related immuno-modulation following trauma. Serial blood samples collected for routine laboratory tests were analyzed for ChrX inactivation (XCI) ratios in white blood cells. Thirty-nine severely injured (mean ISS 19) female trauma patients on mixed racial and ethnic background were tested for initial (baseline) and trauma-induced changes in XCI ratios and their associations with severity of injury and clinical outcome. At admission, two-thirds of the patients showed XCI-ratio values between one and three, about a third presented skewed XCI ratios (3-7 range) and three patients displayed extremely skewed XCI ratios (8-30 range). Serial blood samples during the clinical course showed additional changes in XCI ratios ranging between 20% and 900% over initial. Increasing XCI ratios during the injury course correlated with the severity of trauma, subsequent need for ventilator support and pneumonia. In contrast, initial XCI ratios did not show correlations with injury severity or clinical complications. Initial XCI ratios showed a positive correlation with age but older patients retained the ability to mount trauma-induced secondary XCI changes. These data show that trauma results in X-linked cell selection in females, which is likely to be driven by polymorphic differences between the parental ChrXs. X-linked white blood cell skewing correlates with injury severity and a complicated postinjury clinical course. Female X-linked cellular mosaicism and its capacity to change dynamically during the injury course compared with the lack of this machinery in males may represent a novel immuno-modulatory mechanism contributing to sex-based outcome differences after injury and infection.
在人类和动物研究中均已证实,严重创伤后存在与性别相关的结果差异;然而,性激素状态并不能完全解释这些差异。本研究测试了女性特有的X连锁细胞镶嵌现象是否可能代表一种基于基因的机制,导致创伤后与性别相关的免疫调节。对为进行常规实验室检查而采集的系列血样分析白细胞中的X染色体失活(XCI)比率。对39名种族和民族背景各异的严重受伤(平均损伤严重度评分19)女性创伤患者,检测其初始(基线)和创伤诱导的XCI比率变化及其与损伤严重程度和临床结局的关联。入院时,三分之二的患者XCI比率值在1至3之间,约三分之一呈现偏态XCI比率(3 - 7范围),3名患者呈现极度偏态XCI比率(8 - 30范围)。临床过程中的系列血样显示,XCI比率较初始值有20%至900%的额外变化。损伤过程中XCI比率增加与创伤严重程度、随后对呼吸机支持的需求以及肺炎相关。相比之下,初始XCI比率与损伤严重程度或临床并发症无相关性。初始XCI比率与年龄呈正相关,但老年患者仍有能力发生创伤诱导的继发性XCI变化。这些数据表明,创伤导致女性X连锁细胞选择,这可能由亲代X染色体之间的多态性差异驱动。X连锁白细胞偏态与损伤严重程度和复杂的伤后临床过程相关。与男性缺乏这种机制相比,女性X连锁细胞镶嵌现象及其在损伤过程中动态变化的能力可能代表一种新的免疫调节机制,导致损伤和感染后基于性别的结局差异。