International Journal of Molecular Evolution and Biodiversity 2024, Vol.14, No.1, 10-17 http://ecoevopublisher.com/index.php/ijmeb 16 These comparative studies emphasize the complexity of human adaptive evolution. In some cases, adaptive genetic variations may bring other health risks, such as sickle cell disease, which enhances resistance to malaria but also leads to sickle cell anemia. This phenomenon is called evolutionary trade offs and is an important concept in adaptive evolutionary research. 5 Discussion and Outlook Although GWAS has revealed many key genetic markers related to high-altitude adaptability, current research still has some limitations. Due to the limited sample size of the study, it may affect the broad applicability and statistical significance of the research results. Especially in some high-altitude populations, the remote geographical location and difficulty in obtaining samples limit the possibility of large-scale sample collection. Moreover, current research mainly focuses on specific genes and loci, with insufficient consideration given to the complexity of gene environment interactions and phenotypes. High altitude adaptability is a complex multi gene trait that involves the interaction of multiple genes and environmental factors, and current research methods may not be able to fully capture this complexity. Faced with these challenges, future research directions can focus on increasing sample size and diversity, adopting multi omics methods, and exploring gene environment interactions in depth. Through international cooperation, collecting samples from a wider range of regions and diverse populations, especially high-altitude populations that have not been extensively studied, is expected to improve the representativeness and statistical power of research, as the genetic information of these populations is crucial for understanding human adaptive evolution. At the same time, combining genomics, transcriptomics, proteomics, and metabolomics data can more comprehensively reveal the biological mechanisms of high-altitude adaptability, helping us to deeply understand how genes affect physiological adaptability through different pathways and networks. In addition, developing new statistical models and experimental designs to explore the interaction between genes and environmental factors, studying changes in gene expression under specific environmental conditions, and how environmental stress affects the selection of genetic variation are also key directions for future research. The study of high-altitude adaptability is of great significance for understanding human evolution. These studies not only reveal how humans adapt to extreme environments through genetic variation, but also demonstrate the richness and complexity of human genetic diversity. From a broader perspective, these studies provide important insights into understanding human survival and reproduction strategies in various global environments. Meanwhile, research on high-altitude adaptability also has potential application value. For example, in-depth research on high-altitude adaptability related genes can help develop new treatment methods to address health issues in high-altitude environments such as altitude sickness. Meanwhile, these studies also provide valuable information for predicting and addressing environmental pressures caused by global climate change. Authors’ Contributions HYP was the designer and executor of this study, responsible for writing and revising the paper; LW participated in literature analysis, paper revision, and English translation. Both authors read and approved the final manuscript. References Buroker N., Ning X., Zhou Z., Li K., Cen W., Wu X., Zhu W., Scot C., and Chen S., 2012, EPAS1 and EGLN1 associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau, Blood cells, molecules & diseases, 492, 67-73. https://doi.org/10.1016/j.bcmd.2012.04.004 PMid:22595196 Cirillo E., Kutmon M., Hernández M., Hooimeijer T., Adriaens M., Eijssen L., Parnell L., Coort S., and Evelo C., 2018, From SNPs to pathways: Biological interpretation of type 2 diabetes (T2DM) genome wide association study (GWAS) results, PLoS ONE, 13. https://doi.org/10.1371/journal.pone.0193515 PMid:29617380 PMCid:PMC5884486 Heinrich E., Wu L., Lawrence E., Cole A., Anza-Ramírez C., Villafuerte F., and Simonson T., 2019, Genetic variants at the EGLN1 locus associated with high-altitude adaptation in Tibetans are absent or found at low frequency in highland Andeans, Annals of Human Genetics, 83, 171 - 176. https://doi.org/10.1111/ahg.12299 PMid:30719713 PMCid:PMC7920394
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