International Journal of Molecular Evolution and Biodiversity 2024, Vol.14, No.1, 10-17 http://ecoevopublisher.com/index.php/ijmeb 13 Peng et al. (2011) found in their study that specific variations in the EGLN1 gene are more frequent in the Tibetan population, and these variations are associated with physiological adaptability for survival in high-altitude environments, particularly with regulation of hemoglobin concentration. From the above studies, it can be found that the frequency of specific mutations of EPAS1 gene is significantly increased among the residents of Xizang Plateau. The EPAS1 gene encodes hypoxia inducible factor 2α (HIF-2α). This protein is a key transcription factor in the hypoxia sensing pathway, involved in regulating various physiological processes such as red blood cell generation, energy metabolism, and angiogenesis. In addition, the variation of EGLN1 is closely related to high-altitude adaptability. EGLN1 encodes hydroxylase, which is responsible for labeling HIF for degradation under normoxic conditions, and its variation may affect the stability and activity of HIF. In addition to EPAS1 and EGLN1, other genes such as GCH1 and PAPPA2 have also been identified in high-altitude adaptability studies. The variation of these genes may participate in the complex process of adapting to high-altitude and low oxygen environments through different physiological pathways. Figure 3 Genomic distribution of FST (A) and XP-CLR score (B) (SNP specific FST statistic between Tibetan and Han Chinese populations was calculated for every SNP that passes QC) (Xu et al., 2011) 2.2 Function of adaptive genetic variation These genetic variations discovered through GWAS research reveal the complex genetic mechanisms underlying high-altitude adaptability. For example, mutations in the EPAS1 gene affect HIF-2 α It may reduce the production of red blood cells to avoid the increase of blood viscosity caused by excessive hemoglobin concentration, help Xizang plateau residents maintain high blood oxygen saturation and adapt to the hypoxic environment. The mutations in EGLN1 and PAPPA2 genes may help individuals optimize energy consumption and utilization to meet physiological needs in high-altitude environments by regulating metabolic and growth related pathways. These adaptive genetic variations not only reveal how humans face extreme environmental challenges through genetic adaptation, but also provide new perspectives for understanding the regulation of human physiological functions. For example, studying the EPAS1 gene not only helps to understand high-altitude adaptability, but may also provide potential therapeutic targets for studying medical conditions related to oxygenation, such as hypoxic diseases (Liu et al, 2019).
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