Strohl Kingman P
Department of Medicine, Case Western Reserve University, Veterans Administration Medical Center, 111 J, 10701 East Boulevard, Cleveland, OH 44106, USA.
Sleep Breath. 2008 May;12(2):115-21. doi: 10.1007/s11325-007-0135-9.
An increase in hemoglobin level is seen in virtually all lowlanders who move to or train at altitude; however, studies of high-altitude native populations illustrate that this response is not necessary for successful long-term residence. Indigenous populations living at the same altitude have differences not only in hemoglobin level but also in other traits like oxygen saturation. Support for a genetic causation for differences in features of oxygen transport, namely hemoglobin levels and oxygen saturation, is derived from kindred studies among the highlander populations. Indeed, evidence from Tibet suggests that inferred genes for high oxygen saturation are associated with higher offspring survival. It may be that signaling molecules like nitric oxide and transcription factors such as hypoxia-inducible factor could act as an upstream regulator for highlander traits. However, the preponderance of data suggests that it is unlikely that one process or even a common set of processes is responsible for successful biologic adaptation shown in all three resident high-altitude populations. Future studies will require the ability to identify combinations of genetic variants with outcomes including expression levels, appropriate phenotypes, and functional responses.
几乎所有迁往高海拔地区或在高海拔地区训练的低地人血红蛋白水平都会升高；然而，对高海拔本地人群的研究表明，这种反应对于长期成功居住并非必要。生活在同一海拔高度的本土人群不仅在血红蛋白水平上存在差异，在其他特征如血氧饱和度方面也有差异。对氧运输特征差异（即血红蛋白水平和血氧饱和度）的遗传原因的支持来自对高地人群的亲属研究。事实上，来自西藏的证据表明，推断出的高血氧饱和度基因与更高的后代存活率相关。一氧化氮等信号分子和缺氧诱导因子等转录因子可能作为高地人特征的上游调节因子。然而，大量数据表明，不太可能是一个过程甚至一组共同的过程导致了所有三个高海拔居住人群所表现出的成功生物适应。未来的研究将需要有能力识别基因变异组合及其结果，包括表达水平、适当的表型和功能反应。
