School of Information Science and Engineering, Lanzhou University, Lanzhou 730000, China.
Beijing Institute of Basic Medical Sciences, Beijing 100850, China.
Genes (Basel). 2024 Aug 14;15(8):1075. doi: 10.3390/genes15081075.
High-altitude acclimatization refers to the physiological adjustments and adaptation processes by which the human body gradually adapts to the hypoxic conditions of high altitudes after entering such environments. This study analyzed three mRNA expression profile datasets from the GEO database, focusing on 93 healthy residents from low altitudes (≤1400 m). Peripheral blood samples were collected for analysis on the third day after these individuals rapidly ascended to higher altitudes (3000-5300 m). The analysis identified significant differential expression in 382 genes, with 361 genes upregulated and 21 downregulated. Further, gene ontology (GO) annotation analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis indicated that the top-ranked enriched pathways are upregulated, involving blood gas transport, erythrocyte development and differentiation, and heme biosynthetic process. Network analysis highlighted ten key genes, namely, , , , , , , , , , and . Analysis revealed that two of these key genes, and , play a critical role in the heme biosynthetic process, which is pivotal in the development and maturation of red blood cells. These findings provide new insights into the key gene mechanisms of high-altitude acclimatization and identify potential biomarkers and targets for personalized acclimatization strategies.
高原习服是指人体进入高原环境后，通过一系列生理调节和适应过程，逐渐适应高原缺氧环境的现象。本研究分析了 GEO 数据库中的三个 mRNA 表达谱数据集，共纳入 93 名来自低海拔（≤1400m）地区的健康居民。这些个体在快速上升到海拔 3000-5300m 后的第三天采集外周血样本进行分析。结果发现，有 382 个基因存在显著差异表达，其中 361 个基因上调，21 个基因下调。进一步的基因本体（GO）注释分析和京都基因与基因组百科全书（KEGG）通路富集分析表明，排名靠前的富集通路被上调，涉及血氧运输、红细胞发育和分化以及血红素生物合成过程。网络分析突出了 10 个关键基因，即、、、、、、、、和。分析显示，这 10 个关键基因中的两个，和，在血红素生物合成过程中发挥关键作用，该过程对红细胞的发育和成熟至关重要。这些发现为高原习服的关键基因机制提供了新的见解，并为制定个性化习服策略提供了潜在的生物标志物和靶点。
